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1.
Am J Hum Biol ; 34(4): e23672, 2022 04.
Article in English | MEDLINE | ID: mdl-34436809

ABSTRACT

OBJECTIVES: This cross-sectional study investigates associations between the FTO rs 17817449 genetic variant, liver enzymes, and hypertension in Slovak midlife women. METHODS: We assessed 576 Slovak women aged 39 to 65 years. The women were interviewed and examined during their medical examination at local Health Centers and then divided into subgroups according to their blood pressure status; 255 women with hypertension and 321 normotensive. The FTO genetic variant was detected by polymerase chain reaction-restriction fragment length polymorphism. Resultant data was analyzed by linear regression analysis and general linear models to adjust for risk factors associated with gamma-glutamyl transferase levels (GGT), including waist to hip ratio (WHR) and uric acid (UA). RESULTS: A significant association between the FTO variant and GGT levels was observed in the hypertensive group after control for confounding covariates, including WHR and UA (p = .004). The predicted GGT level for GT/TT hypertensive carriers is 0.158 µkat/L higher than for GG carriers. Moreover, the two-way analysis of covariance revealed significant interaction between FTO effects and hypertension on logGGT levels (p = .042). Finally, hypertensive women with the T-allele had the highest estimated marginal mean value of logGGT at -0.39 µkat/L while the GG-genotype in both hypertensive and normotensive women had the lowest value at -0.54 µkat/L. CONCLUSIONS: This study suggests that the FTO (rs17817449) variant is associated with higher serum GGT levels in hypertensive midlife women.


Subject(s)
Hypertension , gamma-Glutamyltransferase , Adult , Aged , Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics , Cross-Sectional Studies , Female , Genotype , Humans , Hypertension/epidemiology , Hypertension/genetics , Middle Aged , Slovakia/epidemiology , gamma-Glutamyltransferase/genetics
2.
Menopause ; 27(11): 1287-1294, 2020 11.
Article in English | MEDLINE | ID: mdl-33110045

ABSTRACT

OBJECTIVE: This study investigated the association of the Leu432Val and Asn453Ser CYP1B1 polymorphisms and selected environmental biomarkers with hypertension (HT) in Slovak midlife women. METHODS: We studied 575 women. Divided according to their blood pressure status: 255 with HT and 320 without HT. All data was obtained by using standard anthropometric, genetic methods and analyzed by regression models to adjust for HT risk factors such as age, obesity, smoking, and level of education. RESULTS: Our findings revealed that CYP1B1 Leu432Val polymorphism was associated with HT, whereas no association was found between Asn453Ser polymorphism and HT. Women with at least one Val allele had significantly higher odds of HT compared to women with the Leu/Leu genotype in the total sample (Exp(B) = 1.82, CI 1.16-2.84, P = 0.009). After dividing women by menopausal status and the presence of HT environmental risk factor, the association between CYP1B1 polymorphism and HT was observed in pre/perimenopausal women (Exp(B), 2.36; 95% CI 1.13-4.92; P = 0.02), smokers (Exp(B), 3.40; 95% CI 1.48-7.82; P = 0.004), abdominal obesity (Exp(B), 2.41; 95% CI 1.23-4.75; P = 0.01) and in women with only basic education (Exp(B), 4.20, 95% CI 1.12-15.71; P = 0.03). However, general linear models did not reveal a statistically significant interactions between CYP1B1, menopausal status, and HT risk factors and their common association with HT (P > 0.05). CONCLUSIONS: In this pilot study, we have provided novel data that supports the significant association of CYP1B1 Leu432Val gene polymorphism with HT in Slovak midlife women.


Subject(s)
Environmental Biomarkers , Hypertension , Case-Control Studies , Cytochrome P-450 CYP1B1 , Female , Genetic Predisposition to Disease , Genotype , Humans , Hypertension/epidemiology , Hypertension/genetics , Pilot Projects , Polymorphism, Genetic , Slovakia/epidemiology
3.
Menopause ; 26(10): 1185-1192, 2019 10.
Article in English | MEDLINE | ID: mdl-31268920

ABSTRACT

OBJECTIVE: This study examines associations between the ESR1 (XbaI, PvuII) and the MLXIPL (rs3812316) gene polymorphisms, and uric acid (UA) levels in Slovak midlife women, subdivided according to their menopause status. METHODS: We assessed a total of 362 women from 38 to 65 years of age. Women were recruited from different localities in the western and middle parts of Slovakia. Participants were interviewed during their medical examination at local health centers. They were investigated with respect to a variety of aspects such as medical, anthropometrical, and lifestyle. Participants provided a blood sample for biochemical analyses and DNA genotyping. The MLXIPL gene (rs3812316 SNP variant) and ESR1 gene (PvuII and XbaI) genotypes were then detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Data were analyzed using general linear models and multiple linear regression analyses to adjust for risk factors elevating the UA level such as fat mass (FM), triglycerides (TGs) and creatinine. RESULTS: A positive association between MLXIPL and UA level was observed in the total sample of women after control for confounding covariates, including FM, TGs, and creatinine (P = 0.027). Women with the CC genotype had higher UA levels than the G-allele carriers (261.5 µmol/L ± 68.3 vs 241.1 µmol/L ± 55.1 P = 0.013). A statistically significant association was noticed between postmenopause status and the ESR1 XbaI genotype and their effect on UA (P = 0.028). The Bonferroni pairwise comparison determined that the G-allele carriers in the postmenopausal period had higher estimated UA marginal mean (269.7 µmol/L) than the AA-allele postmenopausal women (236.5 µmol/L) (P = 0.012). The estimated UA marginal mean showed a significant increasing trend according to the MS in G allele carriers (248.5 µmol/L in pre/peri-menopausal vs 269.7 µmol/L in postmenopausal, P = 0.009). In contrast, a decreasing trend was observed in AA carriers (250.6 µmol/L in pre/perimenopausal women vs 236.5 µmol/L in postmenopausal). However, this trend was not statistically significant (P = 0.288). CONCLUSIONS: This cross-sectional study suggests that MLXIPL (rs3812316) polymorphism is associated with higher serum UA levels and that the ESR1 (XbaI) polymorphism is associated with UA levels only in the postmenopausal cohort.


Subject(s)
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics , Estrogen Receptor alpha/genetics , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Postmenopause/genetics , Uric Acid/blood , Adult , Aged , Cohort Studies , Creatinine/blood , Cross-Sectional Studies , Female , Genotype , Humans , Middle Aged , Postmenopause/blood , Risk Factors , Slovakia , Triglycerides/blood
4.
Am J Hum Biol ; 30(3): e23094, 2018 05.
Article in English | MEDLINE | ID: mdl-29285838

ABSTRACT

OBJECTIVES: The aim of this study was to examine if the Arg48Gly, Ala119Ser, Leu432Val, and Asn453Ser polymorphisms in the CYP1B1 estrogen-metabolizing gene are associated with menopausal symptom experience in healthy Slovak women aged 40-60 years. We also investigated the possible association of other factors with menopausal symptoms, including health status, physical activity, reproductive history, psychological status, and smoking. METHODS: The total sample consisted of 367 women (mean age 49.11 ± 5.86 years), encompassing 180 premenopausal (mean age 45.06 ± 3.81 years), 29 peri-menopausal (mean age 49.41 ± 3.94 years), and 158 postmenopausal (mean age 53.71 ± 4.54 years) women. The research comprised anthropometric and bioelectrical impedance analysis measurements (BIA), blood or saliva samples collected for DNA analysis, and a specific menopausal questionnaire. RESULTS: CYP1B1 Arg48Gly is significantly associated with vasomotor, psychological, and somatic symptoms. It appears that the Gly/Gly genotype is a risk factor during the postmenopause and protective in the pre- and peri-menopause. CYP1B1 Ala119Ser was associated with all menopausal symptoms, with the Ser/Ser genotype increasing risk in the premenopause and offering protection in the peri- and postmenopause. Polymorphisms Leu432Val and Asn453Ser gave unequivocal results; independent of menopausal status, the Leu/Leu genotype was associated with increasing risk of vasomotor, urogenital, and psychological symptoms and the Asn/Asn genotype provided a protective effect against psychological symptoms. CONCLUSIONS: Our results suggest possible associations of CYP1B1 polymorphisms with the occurrence and manifestation of particular menopausal symptoms in healthy mid-life Slovak women.


Subject(s)
Cytochrome P-450 CYP1B1/genetics , Medically Unexplained Symptoms , Menopause/genetics , Polymorphism, Genetic , Stress, Psychological/epidemiology , Urogenital System/physiopathology , Vasomotor System/physiopathology , Adult , Cytochrome P-450 CYP1B1/metabolism , Exercise , Female , Health Status , Humans , Menopause/physiology , Menopause/psychology , Middle Aged , Reproductive History , Slovakia/epidemiology , Smoking/physiopathology , Stress, Psychological/physiopathology
5.
Genet Test Mol Biomarkers ; 21(1): 46-52, 2017 Jan.
Article in English | MEDLINE | ID: mdl-27854512

ABSTRACT

OBJECTIVE: This study analyzed the association between the MLXIPL gene polymorphism (rs3812316) and triglyceride (TG) levels and selected environmental biomarkers in Slovak women at risk for cardiovascular disease compared to a reference sample. MATERIALS AND METHODS: The studied sample consisted of 200 women at cardiovascular risk (mean age 52.96 ± 6.01 years) and 244 healthy women (mean age 47.52 ± 5.34 years). Participants gave details of their health and lifestyle during their medical examination, and peripheral blood samples were used for biochemical analyses and DNA genotyping. A nested polymerase chain reaction-restriction fragment length polymorphism assay was used to detect the rs 3812316 SNP. RESULTS: We determined that there were significantly different genotype distributions in two TG categories: (1) subjects with normal TG values had a significantly higher G allele frequency than those with elevated TG levels (χ2 = 6.1556, df = 2, p = 0.046); and (2) the rare G allele frequency was 0.11 in the cardiovascular risk group and 0.15 in the reference group. Binary regression analysis showed that women with at least one G allele had a significantly lower relative risk of hypertriglyceridemia than women with the CC genotype (OR = 0.399, p = 0.022, 95% CI = 0.182-0.876). CONCLUSION: This cross-sectional study suggests that MLXIPL rs3812316 genotypes may be associated with TG levels. However, further analysis is advisable because of study limitations.


Subject(s)
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics , Cardiovascular Diseases/blood , Cardiovascular Diseases/genetics , Triglycerides/blood , Triglycerides/genetics , Adult , Alleles , Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/blood , Biomarkers/blood , Case-Control Studies , Cross-Sectional Studies , Female , Gene Frequency , Genetic Association Studies , Humans , Hypertriglyceridemia/blood , Hypertriglyceridemia/genetics , Lipids/blood , Middle Aged , Polymorphism, Single Nucleotide , Risk Factors , Slovakia
6.
Menopause ; 23(5): 577-83, 2016 05.
Article in English | MEDLINE | ID: mdl-26757271

ABSTRACT

OBJECTIVE: The aim of this study was to determine the relationship between the CYP1B1 Asn453Ser polymorphism and selected somatic and biochemical variables, and atherogenic indices in premenopausal and postmenopausal Slovak women. METHODS: The studied sample consisted of 334 women; 188 premenopausal (mean age 45.73 ±â€Š3.77 y) and 146 postmenopausal women (mean age 53.51 ±â€Š4.52 y). The participants were interviewed during their medical examination. They provided a blood sample for biochemical analysis and DNA genotyping. RESULTS: The frequency of rare allele Ser (CYP1B14) was equal to 0.125 in premenopausal and 0.168 in postmenopausal women. The observed genotype frequencies were in the Hardy-Weinberg equilibrium. The Asn453Ser genotype showed statistically significant associations with a high-density lipoprotein (HDL-cholesterol) and apolipoprotein A1 levels in postmenopausal women. The mean values of the above mentioned variables were significantly higher in women carrying the Ser/Ser genotype. The general linear model analysis confirmed the results of the additive genetic model in postmenopausal women and demonstrated significant association of the Asn453Ser polymorphism with HDL-cholesterol levels also in premenopausal women (P = 0.041). CONCLUSIONS: This pilot study revealed a significant association of the CYP1B1 Asn453Ser genotypes with the plasma levels of HDL-cholesterol and of apolipoprotein A1 in postmenopausal women and less unequivocal findings in premenopausal women. Because of study limitations, these results need to be examined in a larger study.


Subject(s)
Cytochrome P-450 CYP1B1/genetics , Postmenopause/blood , Postmenopause/genetics , Premenopause/blood , Premenopause/genetics , Adult , Aged , Alleles , Apolipoprotein A-I/blood , Atherosclerosis/blood , Atherosclerosis/genetics , Cholesterol, HDL/blood , Female , Genotype , Humans , Middle Aged , Pilot Projects , Polymorphism, Genetic , Slovakia
7.
Forensic Sci Int Genet ; 8(1): 126-31, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24315599

ABSTRACT

Studies on Y-chromosomal markers revealed significant genetic differentiation between Southern and Northern (Western and Eastern) Slavic populations. The northern Serbian region of Vojvodina is inhabited by Southern Slavic Serbian majority and, inter alia, Western Slavic (Slovak) and Eastern Slavic (Ruthenian) minorities. In the study, 15 autosomal STR markers were analysed in unrelated Slovaks, Ruthenians and Serbs from northern Serbia and western Slovakia. Additionally, Slovak males from Serbia were genotyped for 17 Y-chromosomal STR loci. The results were compared to data available for other Slavic populations. Genetic distances for autosomal markers revealed homogeneity between Serbs from northern Serbia and Slovaks from western Slovakia and distinctiveness of Serbian Slovaks and Ruthenians. Y-STR variation showed a clear genetic departure of the Slovaks and Ruthenians inhabiting Vojvodina from their Serbian neighbours and genetic similarity to the Northern Slavic populations of Slovakia and Ukraine. Admixture estimates revealed negligible Serbian paternal ancestry in both Northern Slavic minorities of Vojvodina, providing evidence for their genetic isolation from the Serbian majority population. No reduction of genetic diversity at autosomal and Y-chromosomal markers was found, excluding genetic drift as a reason for differences observed at autosomal STRs. Analysis of molecular variance detected significant population stratification of autosomal and Y-chromosomal microsatellites in the three Slavic populations of northern Serbia, indicating necessity for separate databases used for estimations of frequencies of autosomal and Y-chromosomal STR profiles in forensic casework. Our results demonstrate that regarding Y-STR haplotypes, Serbian Slovaks and Ruthenians fit in the Eastern European metapopulation defined in the Y chromosome haplotype reference database.


Subject(s)
Chromosomes, Human, Y , Ethnicity/genetics , Fathers , Founder Effect , Microsatellite Repeats/genetics , Gene Frequency , Humans , Male , Serbia
8.
Biomed Res Int ; 2013: 634207, 2013.
Article in English | MEDLINE | ID: mdl-24350279

ABSTRACT

The aim of this study is to assess the association of two polymorphisms, the cartilage intermediate layer protein 2 (CILP2) G/T and angiotensin converting enzyme (ACE) I/D, with blood pressure and anthropometrical and biochemical parameters related to the development of cardiovascular disease. The entire study sample comprised 341 women ranging in age from 39 to 65 years. The CILP2 genotypes were determined by PCR-RFLP and the ACE genotypes by PCR. The Bonferroni pairwise comparisons showed the effect of the CILP2 genotype on high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), apolipoprotein B (apoB), apoB-to-apoA1 ratio, the total cholesterol (TC)-to-HDL-C ratio, non-HDL-C, and the LDL-C-to-HDL-C ratio (P < 0.05). Here, higher mean levels of HDL-C and lower mean levels of the remaining above mentioned lipid parameters were registered in the GT/TT genotype carriers than in GG carriers. Statistically significant association was identified between the ACE genotype and the following parameters: TC, LDL-C, and non-HDL-C (P < 0.05). The II genotype can lower serum level of TC (B = 0.40), LDL-C (B = 0.37), and non-HDL-C levels. The results of this study suggest that the minor T allele of CILP2 gene and I allele of ACE gene have a protective effect against elevated serum lipid and lipoprotein levels.


Subject(s)
Cardiovascular Diseases/genetics , Microtubule-Associated Proteins/genetics , Peptidyl-Dipeptidase A/genetics , Polymorphism, Genetic/genetics , Alleles , Blood Pressure/genetics , Cardiovascular Diseases/blood , Cholesterol/blood , Cholesterol/genetics , Female , Genetic Predisposition to Disease/genetics , Genotype , Humans , Lipids/blood , Lipids/genetics , Lipoproteins/blood , Lipoproteins/genetics , Middle Aged , Risk Factors , Slovakia
9.
Eur J Hum Genet ; 21(4): 415-22, 2013 Apr.
Article in English | MEDLINE | ID: mdl-22968131

ABSTRACT

Homogeneous Proto-Slavic genetic substrate and/or extensive mixing after World War II were suggested to explain homogeneity of contemporary Polish paternal lineages. Alternatively, Polish local populations might have displayed pre-war genetic heterogeneity owing to genetic drift and/or gene flow with neighbouring populations. Although sharp genetic discontinuity along the political border between Poland and Germany indisputably results from war-mediated resettlements and homogenisation, it remained unknown whether Y-chromosomal diversity in ethnically/linguistically defined populations was clinal or discontinuous before the war. In order to answer these questions and elucidate early Slavic migrations, 1156 individuals from several Slavic and German populations were analysed, including Polish pre-war regional populations and an autochthonous Slavic population from Germany. Y chromosomes were assigned to 39 haplogroups and genotyped for 19 STRs. Genetic distances revealed similar degree of differentiation of Slavic-speaking pre-war populations from German populations irrespective of duration and intensity of contacts with German speakers. Admixture estimates showed minor Slavic paternal ancestry (~20%) in modern eastern Germans and hardly detectable German paternal ancestry in Slavs neighbouring German populations for centuries. BATWING analysis of isolated Slavic populations revealed that their divergence was preceded by rapid demographic growth, undermining theory that Slavic expansion was primarily linguistic rather than population spread. Polish pre-war regional populations showed within-group heterogeneity and lower STR variation within R-M17 subclades compared with modern populations, which might have been homogenised by war resettlements. Our results suggest that genetic studies on early human history in the Vistula and Oder basins should rely on reconstructed pre-war rather than modern populations.


Subject(s)
Chromosomes, Human, Y/genetics , White People/genetics , Gene Flow , Genetic Drift , Genetic Heterogeneity , Genetic Variation , Germany , Haplotypes , Human Migration , Humans , Male , Microsatellite Repeats , Pedigree , Poland , Population/genetics , Population Growth , World War II
10.
Ann Hum Biol ; 40(2): 132-8, 2013 Mar.
Article in English | MEDLINE | ID: mdl-23215737

ABSTRACT

BACKGROUND: Metabolic syndrome (MetS) comprises a cluster of risk components which pre-dispose individuals to cardiovascular mortality. AIM: The purpose of this study is to investigate the variability of biochemical and anthropometric characteristics, apolipoprotein E (APOE) and angiotensin converting enzyme (ACE) genes and their contribution to MetS manifestation. SUBJECTS AND METHODS: A total of 438 adult women were recruited from different localities in Slovakia. All data was established by standard anthropometric, biochemical and genetic methods. RESULTS: The logarithm of the ratio of plasma concentration of triglycerides to HDL-cholesterol [log(TG-to-HDL-C)], waist circumference, systolic blood pressure, apolipoprotein A1, glucose and alanin aminotransferase accounted for most of the differences in MetS manifestation. Logistic regression showed that participants with risk values of the atherogenic index log(TG-to-HDL-C) had a 15.62-fold higher risk of MetS compared to those with lower values for this index (95% CI = 8.3-29.1). Women with hyperglycaemia (or formerly diagnosed diabetes mellitus) had an 8.82-times higher risk of MetS (95%CI = 3.22-24.16). Women with hyper-uricaemia had the same risk of MetS incidence as women with abdominal obesity, Exp (B) = 4.05.Hypercholesterolaemia, ACE and APOE genotypes did not influence MetS. CONCLUSION: MetS may involve many risk factors that can cause serious disorders in multiple organs. However, women with risk values involving plasma atherogenic index log (TG-to-HDL-C) experienced the highest risk of developing MetS.


Subject(s)
Metabolic Syndrome/epidemiology , Metabolic Syndrome/etiology , Adult , Aged , Aged, 80 and over , Apolipoproteins E/blood , Apolipoproteins E/genetics , Biomarkers/blood , Biomarkers/metabolism , Blood Chemical Analysis , Body Mass Index , Female , Humans , Hypertension , Incidence , Liver/enzymology , Middle Aged , Peptidyl-Dipeptidase A/blood , Peptidyl-Dipeptidase A/genetics , Prevalence , Risk Factors , Slovakia/epidemiology , Waist-Hip Ratio
11.
Anthropol Anz ; 69(2): 189-200, 2012.
Article in English | MEDLINE | ID: mdl-22606913

ABSTRACT

The purpose of this study was to investigate whether variant (rs178 17449, G/T) in the first intron of the fat mass and obesity-associated gene (FTO) was related to different obesity parameters and blood pressure in mature women from Slovakia. A total of 419 Slovak women (241 premenopausal and 178 postmenopausal) ranging in age from 39 to 65 years were recruited from different parts of Slovakia. The subgroups were categorized based on the WHO (1996) criteria. All participants gave written informed consent for participation in this study. Anthropometric parameters were measured using standard methods. Fat mass was examined by bioimpedance and blood pressure was measured in the morning during the medical examination. Genomic DNA was extracted from blood or saliva samples by the JET-QUICK Tissue DNA spine kit. The FTO variant was determined by PCR and restriction analysis according to the methodology of Hubacek et al. (2008). The obtained data were statistically analyzed by SPSS 17.0 for Windows. The FTO genotype and allele frequencies in the entire sample and in subgroups according to their menopausal and blood pressure status fell within the Hardy-Weinberg equilibrium. In postmenopausal women the FTO (rs178 17449) genotype was significantly associated with systolic blood pressure (SBP) (p = 0.024) in the dominant GG/GT vs.TT model and with diastolic blood pressure (DBP) (p = 0.030) in the recessive GG vs. GT/TT and the additive model (p = 0.043), respectively. In these postmenopausal women regression analysis showed a statistically significant effect of age, BMI and FTO dominant model on SBP, and of BMI on DBP among the other variables capable of inducing blood pressure differences. This study demonstrates that the SNP rs178 17449 in the FTO gene is associated with systolic and diastolic blood pressure but not with BMI and obesity variables, as already replicated in several populations throughout the world.


Subject(s)
Blood Pressure/physiology , Obesity/genetics , Postmenopause/physiology , Proteins/genetics , Adult , Alpha-Ketoglutarate-Dependent Dioxygenase FTO , Biomarkers/analysis , Body Mass Index , Cross-Sectional Studies , Female , Genetic Variation , Genotype , Humans , Middle Aged , Premenopause/physiology , Regression Analysis , Slovakia/epidemiology
12.
Menopause ; 19(2): 216-24, 2012 Feb.
Article in English | MEDLINE | ID: mdl-22011756

ABSTRACT

OBJECTIVE: In this study, the CYP1B1 polymorphism was examined in relationship to recognized risk factors for cardiovascular disease. In particular, this study focused on plasma lipid levels, atherogenic indices, and body composition. Furthermore, this polymorphism was analyzed as a predisposing factor for menopausal symptoms among women during midlife, subdivided according to their menopause status. METHODS: A total of 399 women aged from 39 to 60 years were examined. They were recruited from the western and middle parts of Slovakia. Participants were interviewed during their medical examination, and they were investigated with respect to a variety of aspects such as anthropometric and medical aspects, and a menopause-specific questionnaire was included. The participants provided a saliva or blood sample for DNA genotyping and a blood sample for biochemical analysis. RESULTS: The Leu432Val genotype demonstrated statistically significant associations with triglycerides, with the ratio of total cholesterol to high-density lipoprotein cholesterol, and with the logarithm of the ratio of plasma concentration of triglycerides to high-density lipoprotein cholesterol in women in their reproductive period. The mean values were significantly lower in women carrying the Val/Val genotype. Four atherogenic indices showed a decreasing trend in relationship to the CYP1B1 genotypes in women during their reproductive period (in the following order of magnitude: Leu/Leu + Leu/Val vs Val/Val) and an increasing trend among postmenopausal women in the same order. Furthermore, the Val/Val genotype diminished experiences of bloated stomach, of vaginal dryness in perimenopausal and postmenopausal women, and of palpitations in premenopausal women. CONCLUSIONS: The Leu432Val polymorphism may be associated with the lipid profile in midlife women. Moreover, this polymorphism may influence the risk of some menopausal symptoms.


Subject(s)
Aryl Hydrocarbon Hydroxylases/genetics , Biomarkers/analysis , Lipids/blood , Menopause/genetics , Polymorphism, Genetic/genetics , Adult , Atherosclerosis/genetics , Body Composition , Cytochrome P-450 CYP1B1 , DNA/analysis , DNA/blood , Female , Genotype , Humans , Lipoproteins, HDL/blood , Lipoproteins, HDL/genetics , Menopause/physiology , Middle Aged , Saliva/chemistry , Slovakia , Surveys and Questionnaires , Triglycerides/blood , Triglycerides/genetics
13.
Anthropol Anz ; 68(2): 111-27, 2010.
Article in English | MEDLINE | ID: mdl-21452677

ABSTRACT

Eleven Y-chromosomal microsatellite loci included in the Powerplex Y multiplex kit were analyzed in different Slovak population samples: Habans (n = 39), Romanies (n = 100) and Slovak Caucasian (n = 148) individuals, respectively, from different regions of Slovakia. The analysis of molecular variance between populations indicated that 89.27% of the haplotypic variations were found within populations and only 10.72% between populations (Fst = 0.1027; p = 0.0000). The haplotype diversities were ranging from 0.9258 to 0.9978, and indicated a high potential for differentiating between male individuals. The study reports differences in allele frequencies between the Romanies, Habans and Slovak Caucasian men. Selected loci showed that both the Romany and Haban population belonged to endogamous and relatively small founder population groups, which developed in relatively reproductive isolated groups surrounded by the Slovak Caucasian population.


Subject(s)
Chromosomes, Human, Y , Microsatellite Repeats , Racial Groups/genetics , Analysis of Variance , Genetic Loci , Haplotypes , Humans , Male , Molecular Epidemiology , Polymorphism, Single Nucleotide , Slovakia
14.
Anthropol Anz ; 67(1): 1-11, 2009 Mar.
Article in English | MEDLINE | ID: mdl-19462670

ABSTRACT

The purpose of this study was to assess clustering of Metabolic Syndrome components in aged Slovaks, and to investigate whether insertion/deletion (I/D) polymorphism of the human angiotensin-converting enzyme (ACE) gene is associated with this syndrome. Data were available from 374 Slovak participants (200 females and 174 males) ranging in age between 60 and 90 years. ACE I/D polymorphism was determined by PCR amplification of the ACE gene sequence. Metabolic Syndrome was diagnosed according to criteria in the NCEP ATP-III. Elderly males and females differ significantly in the prevalence of Metabolic Syndrome (females 45.1%, males 24.8%). The males and females including subjects with and without metabolic syndrome, respectively, did not differ significantly in the three genotype distributions (p = 0.603 and p = 0.247). The allele frequencies (D = 0.5483, I = 0.4517) in the entire sample fell within the Hardy-Weinberg equilibrium. There was no confirmed association between ACE genotype and phenotypic variation in the recognized risk components for Metabolic Syndrome in elderly Slovaks. Among other factors which may induce a difference in Metabolic Syndrome, significant effect was detected for sex, BMI, HDL, TG, glucose and the ApoB/ApoA1 ratio.


Subject(s)
Genome-Wide Association Study , INDEL Mutation/genetics , Metabolic Syndrome/genetics , Peptidyl-Dipeptidase A/genetics , Polymorphism, Genetic/genetics , Age Factors , Aged , Aged, 80 and over , Cluster Analysis , Cross-Sectional Studies , Female , Gene Frequency/genetics , Genotype , Humans , Male , Metabolic Syndrome/epidemiology , Middle Aged , Phenotype , Sex Factors , Slovakia
15.
Anthropol Anz ; 67(3): 305-16, 2009 Sep.
Article in English | MEDLINE | ID: mdl-20405703

ABSTRACT

The objective of this study was to examine the influence of ACE (I/D) genotypes on recognized risk variables for hypertension and Metabolic Syndrome in two ethnic population samples from Slovakia. A total of 150 Romany subjects (68 males and 82 females) and 167 Slovaks (45 males and 122 females) were examined. They were interviewed during a medical examination and they were investigated with respect to a variety of aspects such as medical, anthropometrical and life-style. The studied subjects were defined as hypertensive if the blood pressure was > or = 140/90 mm Hg and Metabolic Syndrome (MS) was defined according to criteria of the National Cholesterol Education Program Adult Treatment Panel III-(NCEP ATPIII). ACE (I/D) polymorphism was subsequently determined by PCR amplification of the ACE gene sequence. In the entire sample, the frequency of the mutant D allele was higher in the Slovak subjects (D = 0.527) than in the Romany subjects (D = 0.447), but the difference was not significant (p = 0.053). Neither the Slovak nor the Romany normotensive and hypertensive subjects differed significantly in the distribution of the three ACE genotypes (Slovak p = 0.169, Romany p = 0.116). In both ethnic samples hypertensive men prevailed (Slovak 51.1% vs. Romany 44.1%). The features of Metabolic Syndrome were identified in both samples; they occurred in 33.3% of Slovak men and 14.8% Slovak women vs. 42.9% of Romany men and 32.4% Romany women. Regression analysis showed no association between ACE genotypes and hypertension nor between ACE genotypes and MS in these Slovak population samples.


Subject(s)
Ethnicity/genetics , Genotype , Hypertension/genetics , INDEL Mutation/genetics , Metabolic Syndrome/genetics , Polymorphism, Genetic/genetics , Adolescent , Adult , Aged , Female , Genetics, Population , Humans , Male , Middle Aged , Slovakia , Young Adult
16.
Anthropol Anz ; 66(2): 199-209, 2008 Jun.
Article in English | MEDLINE | ID: mdl-18712159

ABSTRACT

Epidemiological studies have demonstrated that several specific environmental factors and candidate genes influence the human variation in blood pressure. The aim of this study was to investigate variables associated with blood pressure; with a particular emphasis on the differences in insertion/deletion (I/D) polymorphism of the human angiotensin-converting enzyme (ACE), the body composition and the recognized risk factors for atherosclerosis among elderly males and females. A total of 374 participants (174 males and 200 females) aged from 60 to 90 years were recruited from different parts of Slovakia. The elderly were not bed-ridden, nor mentally impaired, they were able to manage their daily activities by themselves. The ACE I/D polymorphism was determined by PCR amplification of the ACE gene sequence. Body composition variables were obtained by bioelectrical impedance analysis, using the BIA 101 soft tissue-body impedance analyzer (Akern, S.r.l.). The subjects were determined to be hypertensive (blood pressure > or = 140/90 mm Hg) or normotensive (blood pressure < or = 140/90 mm Hg ). These two subgroups of males and females did not differ significantly in their mean ages. As expected, the hypertensive subjects of both sexes showed significantly higher mean values in systolic (SBP) and diastolic blood pressure (DBP), in body mass index (BMI), and in the mean values of their plasma glucose and extracellular water (ECW). The genotype distribution and allele frequencies in the whole sample (D = 0.5474, I = 0.4526) fell within the Hardy-Weinberg equilibrium. The frequency of the deleterious D allele in the normotensive (0.5532) and hypertensive (0.5516) subjects was not significantly different. The ACE I/D genotypes did not associate either with the systolic (p = 0.836) or diastolic BP (p = 0.629). From the other variables that may induce differences in blood pressure, a statistical effect was detected for glucose, Na/K, and Apo A1/ApoB ratios and physical activity on SBP, and for ApoA1, physical activity, BMI and total cholesterol on DBP.


Subject(s)
Blood Pressure/genetics , Body Composition/genetics , Ethnicity/genetics , Genetics, Population , INDEL Mutation/genetics , Peptidyl-Dipeptidase A/genetics , Polymorphism, Genetic/genetics , Aged , Aged, 80 and over , Apolipoprotein A-I/genetics , Apolipoproteins B/genetics , Atherosclerosis/genetics , Blood Glucose/metabolism , Body Mass Index , Cholesterol/blood , Exercise/physiology , Female , Genotype , Humans , Male , Middle Aged , Potassium/blood , Risk Factors , Slovakia , Sodium/blood
17.
Anthropol Anz ; 65(2): 137-46, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17711146

ABSTRACT

13 dermatoglyphic variables have been studied in eight population samples (five smaller isolated and three larger populations) to identify the possible differences between the larger and the smaller isolated populations. The data and neighbor joining trees for the dermatoglyphic variables show distinct differences between males and females. The isolated population of the Lutheran Mountains is clearly separated from the other populations. Combining the results of dermatoglyphic and 12 hemogenetic variables (only for six populations) the male and female trees are nearly identical. The three isolated populations are clearly separated, whereas the larger ones show smaller distances.


Subject(s)
Blood Group Antigens/genetics , Dermatoglyphics/classification , Genetics, Population , Social Isolation , Female , Genetic Variation , Germany , Humans , Male , Romania , Slovakia
18.
Anthropol Anz ; 65(1): 25-35, 2007 Mar.
Article in English | MEDLINE | ID: mdl-17444189

ABSTRACT

The aim of this paper is to evaluate dietary habits and behavioural factors related to atherosclerosis in Slovak Romany, the large minority, characterized by high cardiovascular morbidity. The study involved 150 Romany volunteers (68 males, mean age 42.1 +/- 13.9 y and 82 females, mean age 40.9 +/- 13.7 y). Dietary data were obtained by a validated food-requency questionnaire and a single 24-hour dietary recall. The nutrient intake and health behaviour of the Romany population is not consistent with current guidelines for atherosclerosis prevention. The mean intake of fat is higher than the recommended dietary allowance (RDA), especially in males (155.3 % of RDA). In females the intake of alpha-linolenic acid is low, in males the cholesterol content of the food exceeds the acceptable value. The mean intake of protein is higher than the recommendation (males 153% of RDA, females 122.2%), with a high proportion of animal protein. In both sexes the mean intake of vitamins is below the RDA. In comparison to the general population the diet of the Romany males contains significantly more animal protein (p < 0.05), less plant protein (p < 0.05) and folate (p < 0.01). In the diet of the Romany females a significantly lower intake of plant protein (p < 0.05) and vitamin E (p < 0.05) was observed, as well as a lower intake of linoleic acid and iron in both sexes. The cumulation of ten selected cardiovascular risk factors showed that particularly the Romany males could be considered as having more atherogenic profile.


Subject(s)
Atherosclerosis/epidemiology , Diet/statistics & numerical data , Feeding Behavior , Life Style/ethnology , Nutrition Surveys , Risk Assessment/methods , Roma/statistics & numerical data , Adult , Female , Humans , Male , Nutritional Status , Risk Factors , Sex Distribution , Slovakia/ethnology
19.
J Hum Genet ; 52(5): 406-414, 2007.
Article in English | MEDLINE | ID: mdl-17364156

ABSTRACT

A set of 18 Y-chromosomal microsatellite loci was analysed in 568 males from Poland, Slovakia and three regions of Belarus. The results were compared to data available for 2,937 Y chromosome samples from 20 other Slavic populations. Lack of relationship between linguistic, geographic and historical relations between Slavic populations and Y-short tandem repeat (STR) haplotype distribution was observed. Two genetically distant groups of Slavic populations were revealed: one encompassing all Western-Slavic, Eastern-Slavic, and two Southern-Slavic populations, and one encompassing all remaining Southern Slavs. An analysis of molecular variance (AMOVA) based on Y-chromosomal STRs showed that the variation observed between the two population groups was 4.3%, and was higher than the level of genetic variance among populations within the groups (1.2%). Homogeneity of northern Slavic paternal lineages in Europe was shown to stretch from the Alps to the upper Volga and involve ethnicities speaking completely different branches of Slavic languages. The central position of the population of Ukraine in the network of insignificant AMOVA comparisons, and the lack of traces of significant contribution of ancient tribes inhabiting present-day Poland to the gene pool of Eastern and Southern Slavs, support hypothesis placing the earliest known homeland of Slavs in the middle Dnieper basin.


Subject(s)
Chromosomes, Human, Y , Microsatellite Repeats , White People/genetics , Emigration and Immigration , Haplotypes , Humans , Male , Poland , Republic of Belarus , Slovakia
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