Combined metabolic, phenomic and genomic data to prioritize atrial fibrillation-related metabolites.

Metabolites in atrial fibrillation (AF) were characterized to further explore the molecular mechanisms of AF by integrating metabolic, phenomic and genomic data. Gene expression data on AF (E-GEOD-79768) were downloaded from the EMBL-EBI database, followed by identification of differentially expressed genes (DEGs) which were used to construct gene-gene network. Then, multi-omics composite networks were constructed. Subsequently, random walk with restart was expanded to a multi-omics composite network to identify and prioritize the metabolites according to the AF-related seed genes deposited in the OMIM database, the whole metabolome as candidates and the phenotype of AF. Using the interaction score among metabolites, we extracted the top 50 metabolites, and identified the top 100 co-expressed genes interacted with the top 50 metabolites. Based on the FDR <0.05, 622 DEGs were extracted. In order to demonstrate the intrinsic mode of this method, we sorted the metabolites of the composite network in descending order based on the interaction scores. The top 5 metabolites were respectively weighed potassium, sodium ion, chitin, benzo[a]pyrene-7,8-dihydrodiol-9,10-oxide, and celebrex (TN). Potassium and sodium ion possessed higher degrees in the subnetwork of the entire composite network and the co-expressed network. Metabolites such as potassium and sodium ion may provide valuable clues for early diagnostic and therapeutic targets for AF.

[Relationship between genetic variation of furin gene and hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population].

OBJECTIVE: To investigate the relationship between the genetic variation of Furin gene and the hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population. METHODS: Based on a cross-sectional epidemiological study in a Kazakh general population, a case-control study including 878 subjects was conducted. All the sequence variant-located promoters and exon regions of Furin gene were identified by the direct sequencing of PCR products in 48 randomly selected hypercholesterolemic individuals (24 males and 24 females). After having genotyped the representative polymorphisms in 878 subjects by TaqMan PCR, we investigated the relationship between genetic variation of Furin and hypercholesterolemia/hyper-low-density lipoprotein cholesterolemia in these subjects. RESULTS: Twelve genetic variations in Furin gene were identified by sequencing 48 hypercholesterolemic individuals and 4 common single nucleotide polymorphisms (rs6226, rs6227, rs2071410, and rs4932178)were selected as the representatives for genotyping in these subjects. The rs6226, rs6227, rs2071410, and rs4932178 polymorphisms were successfully genotyped. The distribution of the genotypes, alleles, and haplotypes of rs6226, rs6227, rs2071410, and rs4932178 polymorphisms did not differ significantly between the hypercholesterolemia group and the control groups or between the hyper-low-density lipoprotein cholesterolemia group and the control groups (all P>0.05). The cholesterol and low-density lipoprotein cholesterol levels did not differ significantly among individuals with different genotypes (all P>0.05). CONCLUSION: The genetic variation of Furin may not be associated with hypercholesterolemia or hyper-low-density lipoprotein cholesterolemia in Kazakh general population.

[Analysis of influencing factors on circadian blood pressure of hypertensive patients with obstructive sleep apnea-hypopnea syndrome].

OBJECTIVE: To investigate the effect of obesity, arousal, hypoxia and sympathetic activation on the circadian blood pressure of hypertensive patients with obstructive sleep apnea-hypopnea syndrome. METHODS: Polysomnography (PSG) was performed in 436 hypertensive patients complaining of snoring, daytime sleepiness, lips cyanosis, hyperhemoglobinemia of unknown etiology, or with refractory hypertension. Hypertensive subjects were divided into four groups according to apnea-hypopnea index (AHI): hypertensive with mild obstructive sleep apnea-hypopnea syndrome (OSAHS) (n = 131), hypertensive with moderate OSAHS (n = 95), hypertensive with severe OSAHS (n = 95) and hypertensive without OSAHS as control group (n = 115). The ambulatory blood pressure monitoring (ABPM), PSG, urine electrolyte, and urine vanillylmandelic acid (VMA) were compared among groups. Factor analysis was employed to identify common factors related to the alterations of circadian blood pressure. Multiple linear regression analysis was used to analyze the influencing factors of the observed variables. RESULTS: There were significant differences among groups in age, neck circumference and waist circumference(P < 0.001). In severe group, 24 hour average systolic blood pressure (24 hSBP)[ (137.0 ± 16.8) mm Hg vs.(131.3 ± 11.9)mm Hg, (131.3 ± 13.2)mm Hg (1 mm Hg = 0.133 kPa)], daytime systolic blood pressure (day-SBP) [(140.8 ± 16.8) mm Hg vs. (135.7 ± 11.9) mm Hg, (135.3 ± 13.5) mm Hg]and night systolic blood pressure (night-SBP)[ (130.9 ± 17.0) mm Hg vs.(124.5 ± 14.0 )mm Hg, (124.3 ± 13.2) mm Hg] were significantly higher than those of control or mild OSAS groups (P < 0.01). Factor analysis showed that body mass (BM), life style, urine electrolyte, age and course of disease (ACD) were the common factors influencing circadian blood pressure. OSAHS was correlated with declining percentage of SBP (ß = -0.128, P < 0.01) and declining percentage of DBP (ß = -0.126, P < 0.01). The contribution according to priority was ACD > OSAHS > BM for declining percentage of SBP (ß = -0.148, P = 0.002;ß = -0.128, P = 0.007;ß = 0.099, P = 0.035), OSAHS > ACD > BM for declining percentage of DBP(ß = -0.126, P = 0.008;ß = -0.105, P = 0.026;ß = 0.097, P = 0.042). CONCLUSION: OSAHS, ACD and BM are the independent risk factors contributing to the alterations of circadian blood pressure in hypertensive patients with obstructive sleep apnea-hypopnea syndrome.

[Association study of PRDM16 gene polymorphisms with essential hypertension in Xinjiang Uygur population].

OBJECTIVE: To assess the association of polymorphisms of PR domain containing 16 gene (PRDM16) with essential hypertension in ethnic Uygur population from Xinjiang, China. METHODS: Functional regions of the PRDM16 gene were sequenced in 48 Uygur subjects with essential hypertension selected from 480 hypertensive patients and 819 normotensive controls. Representative variations were genotyped with TaqMan-PCR method. Association of variations of PRDM16 gene with hypertension was analyzed. RESULTS: For the 4 genotyped representative variations (rs2236518, rs2282198, rs2493292 and rs870171), no significant difference in genotype distribution and allele frequencies has been found between the patient and control groups (P>0.05). By ANOVA analysis, none of the polymorphisms was significantly associated with systolic or diastolic blood pressure (P>0.05). Nor was significant difference in haplotypic frequencies between the two groups detected (P>0.05). CONCLUSION: We have found no association between the four polymorphisms (rs2236518, rs2282198, rs2493292 and rs870171) of the PRDM16 gene with essential hypertension in ethnic Uygur population from Xinjiang.

Genetic polymorphism of six transmembrane protein of prostate 2 associated with diabetes mellitus in Xinjiang Uygur population.

OBJECTIVE: To investigate the association between the genetic variations of six transmembrane protein of prostate 2 (STAMP2) with type 2 diabetes mellitus (T2DM) in Xinjiang Uygur population. METHODS: A case-control study was conducted based on epidemiological investigation. A total of 1838 Uygur subjects were selected and divided into two groups: T2DM group (n=274) and control group (n=1564). All exons, flanking introns, and the promoter regions of STAMP2 gene were sequenced in 48 Uygur Xinjiang population with diabetes. Representative variations selected were genotyped by TaqMan-PCR method in all individuals. RESULTS: Ten novel and 6 known variations in the STAMP2 gene were identified. The distribution of genotype rs8122 significantly differed between T2DM group and control group (P=0.05), whereas the distribution of genotypes rs1981529 and rs34741656 showed no such difference. The fasting insulin in the total cohort and homeostasis model of assessment index in females showed significant difference between these two groups (P<0.05), while the adjusted P value showed no statistical significance (P>0.05). In the male population, the different genotypes of rs8122 variation of STAMP2 gene were not significantly different (P>0.05). CONCLUSION: Three polymorphisms (rs8122, rs1981529 and rs34741656) of STAMP2 gene may be not related with T2DM in Xinjiang Uygur population.

[Impact of body mass index on incidence of obstructive sleep apnea-hypopnea syndrome in hospitalized hypertensive patients].

OBJECTIVE: To investigate the impact of obesity on incidence of obstructive sleep apnea-hypopnea syndrome (OSAHS) in hospitalized hypertensive patients. METHODS: A total of 825 hospitalized hypertensive patients from April 1 to June 30 in 2009 in our hospital were included. Patients were asked to answer the questions concerning snoring, daytime sleepiness. Patients with loud snoring and daytime sleepiness, tubbiness neck, retrognathia, enlarged tongue, orolingual cyanosis were selected to undergo polysomnography monitoring for a whole night. OSAHS is defined by clinical symptoms and apnea-hypopnea index (AHI) not less than 5 per hour. RESULTS: (1) The detection rate of OSAHS in this cohort was 23.52% (178/825), 34.34% (148/431) in males and 11.68% (46/394) in females respectively. (2) The detection rate was 6.6% (12/183) in normal weight subjects, 22.22% (78/351) in overweight subjects and 36.75% (104/283) in obesity subjects (χ(2) = 56.736, P < 0.01). The severe OSAHS rate in obesity group (16.61%) was significantly higher than that in normal weight group (2.19%) and overweight group (7.69%, χ(2) = 29.219, P < 0.01). (3) The OSAHS rate was 7.83% (9/115) in normal waist circumference group and 26.29% (184/700) in centricity obesity group (χ(2) = 18.623, P < 0.01). The severe OSAHS rate was 2.61% (3/115) in normal waist circumference group and 10.57% (74/700) in centricity obesity (χ(2) = 7.32, P < 0.01). (4) The moderate to severe OSAHS rate increased in proportion with BMI increase in female patients (χ(2) = 5.846, P < 0.05) and increased in proportion with BMI and waist circumference increase in male patients (P < 0.01). CONCLUSIONS: The incidence of OSAHS in hypertensive patients is high. Obesity further increases the morbidity of OSAHS in hypertensive patients.

[Association between genetic polymorphism of the six-transmembrane protein of prostate 2 and obesity in Uygur].

OBJECTIVE: To investigate the association between genetic variations of the six transmembrane protein of prostate 2 (STAMP2) and obesity in Xinjiang Uygur population. METHODS: A total of 2332 Uygur subjects (1455 obesity and 877 non-obesity control subjects) were included in this case-control study based on epidemiological survey. Genetic variations of STAMP2 gene functional region were sequenced. The representative variations selected were genotyped by TaqMan-PCR method. RESULTS: Twenty genetic variations, including 14 novel variations, were identified. The genotype distributions of the control group and obesity group were in the Hardy-Weinberg equilibrium (both P > 0.05). The frequency of AA of rs1981529 (67.6% vs. 62.8%, P < 0.05) and the frequency of G-A-G haplotype (62.4% vs. 58.9%, P < 0.05) in obesity group were significantly higher than that in controls while the frequency of A-G-G haplotype was significantly lower in the obesity patients than that in the control group (17% vs. 20%, P < 0.05). After adjusting age, sex, smoking and drinking, logistic regression analysis showed that the AA genotype of rs1981529 (OR: 1.276, 95%CI: 1.049 - 1.552; P < 0.05) and the G-A-G haplotype (OR: 1.356, 95%CI: 1.007 - 1.862, P < 0.05) were the independent risk factors for obesity in this cohort. CONCLUSION: The AA genotype of rs1981529 and G-A-G haplotype are associated with obesity in Uygur population of Xinjiang.

[A study of relationship between obstructive sleep apnea-hypopnea syndrome in hypertension and insulin].

OBJECTIVE: To investigate the association between the obstructive sleep apnea-hypopnea syndrome (OSAHS) in hypertension and insulin. METHODS: A total of 521 patients were divided into 4 groups according to apnea-hypopnea index and OSAHS degrees. The control group (group I), mild OSAHS group (group II), moderate OSAHS group (group III) and severe OSAHS group (group IV) had 89 patients, 194 patients, 118 patients and 120 patients respectively. RESULTS: The BMI [(30.4 ± 3.8) kg/m(2)], apnea-hypopnea index (AHI, 3.8 ± 0.1), Fasting insulin (FIns) [(3.08 ± 0.26) mU/L] and insulin resistance (2.43 ± 0.27) of patients in severe OSAHS group were significantly higher than that of in the control, mild OSAHS group and moderate OSAHS group (P < 0.01). The levels of saturation of minimum oxygen from skin of patients in severe OSAHS group was significantly lower (MSpO(2)) than in that of the control, mild OSAHS group and moderate OSAHS group. Multiple linear regression analysis showed that fasting plasma insulin and insulin resistance was positive correlation with apnea-hypopnea index, while they also negatively associated with saturation of minimum oxygen. CONCLUSIONS: FIns and insulin resistance strongly associate with AHI and levels of saturation of minimum oxygen from skin. Hypertensive patients with OSAHS have more chances to suffer with insulin resistance.

[Association of STEAP4 genetic polymorphisms with insulin resistance in Uygur Chinese general population].

OBJECTIVE: To explore the relationship between six-transmembrane epithelial antigen of prostate 4 (STEAP4) genetic polymorphisms and insulin resistance (IR) in Uygur Chinese general population. METHODS: In this cross-sectional study on the metabolic diseases (e.g. obesity) among Uygur Chinese in Hetian, Xinjiang, China,from January to February 2007, 2127 Uygur individuals were enrolled. The sample size for IR subjects [homeostasis model assessment for insulin resistance (HOMA-IR) ≥2.3 65%] was 669, whereas that for non-IR controls was 664 (HOMA-IR≤1.335%). STEAP4 gene was sequenced in 50 Uygur Chinese individuals with IR (HOMA-IR≥2.3). The representative variations were selected from the population based on a r(2) cutoff of 0.8 and a minor allele frequency of >5% for case-control study. RESULTS: Totally 16 variations including 10 novel variations (no reported in dbSNP) were identified in 50 Uygur individuals with IR. 7414 G/A (rs8122)(P/Pc=0.004/0.012)and 224A/G (rs1981529, Gly75Asp)(P/Pc=0.015/0.045)variations were significantly correlated with IR phenotype in Uygur subjects. As shown by multiple linear regression analysis, the mean values of waist circumference (WC) (P/Pc=0.032/0.256), body mass index (BMI) (P/Pc=0.004/0.032), HOMA-IR (P/Pc=0.010/0.08), and fasting insulin (P/Pc=0.023/0.184) among A (protection) allele carriers of rs8122 and the mean values of WC (P/Pc=0.005/0.040) and BMI (P/Pc=0.002/0.016) among G (protection) allele carriers of rs1981529 gradually declined. Haplotype 1 (rs8122 G- rs1981529 A- rs34741656 G) was significantly associated with a higher prevalence of IR (Permutation P=0.021). CONCLUSION: STEAP4 genetic variations are likely to be associated with obesity-related insulin resistance in Uygur Chinese general population.

[Epidemiological survey of lipid levels and factors in Kazakan people over 30-year old in Fukang of Xinjiang].

OBJECTIVE: To study the lipids level in Kazakan individuals over 30-year-old in Fukang area of Xinjiang. METHODS: Random cluster multistage sampling method were performed to select the subjects, and 991 individuals aged older than 30 from Fukang of Xinjiang were included. The plasma total cholesterol (TC), triglyceride (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), plasma glucose and insulin were measured. Related adverse cardiovascular risk factors were discussed. RESULTS: The mean plasma TC, TG, HDL-C and LDL-C of Kazakan residents over 30-year-old in Fukang of Xinjiang were (5.05 ± 1.07), (1.10 ± 0.66), (1.46 ± 0.38) and (3.06 ± 0.84) mmol/L, respectively. TC, TG and LDL-C levels in male subjects were higher than those in females (male vs female: TC: (5.19 ± 1.05) mmol/L vs (4.94 ± 1.07) mmol/L, t = 3.57, P < 0.01; TG: (1.32 ± 0.80) mmol/L vs (0.94 ± 0.46) mmol/L, t = 8.63, P < 0.01; LDL-C: (3.30 ± 0.85) mmol/L vs (2.88 ± 0.79) mmol/L, t = 8.06, P < 0.01). While the HDL-C level in male subjects was lower than that of female (male vs female: (1.32 ± 0.33) mmol/L vs (1.57 ± 0.38) mmol/L, t = 11.48, P < 0.01). The prevalence of dyslipidemia was 28.3% (280/991) in the overall populations. In the overall populations, the prevalence of hypercholesteremia, hypertriglyceridemia, high low-density lipoprotein cholesterolemia and low serum high density lipoprotein cholesterolemia were 12.6% (125/991), 6.6% (65/991), 11.0% (109/991) and 10.1% (100/991), respectively. The prevalence of individuals with borderline-high TC, TG and LDL-C were 27.0% (268/991), 7.6% (75/991) and 20.5% (203/991), respectively. The prevalence of dyslipidemia was 40.0% (172/430) in male populations. The prevalence of dyslipidemia in group aged 30 - 39, 40 - 49, 50 - 59, 60 and above were 26.2% (78/298), 26.0% (91/350), 31.2% (73/234) and 34.9% (38/109), respectively, the trend of prevalence was significant by trend test for groups comparison (χ(2) = 3.94, P < 0.05). Adjusting for age and gender, TG was positively correlated with waist circumference, abdominal circumference and BMI, the partial relation coefficients were 0.368 (P < 0.01), 0.336 (P < 0.01) and 0.331 (P < 0.01), respectively, and HDL-C was negatively correlated with waist circumference, abdominal circumference and BMI, the partial relation coefficients were -0.340 (P < 0.01), -0.339 (P < 0.01) and -0.321 (P < 0.01), respectively. CONCLUSION: The lipid levels of Kazakan residents from Fukang area are high and are characterized by hypercholesteremia and high low-density lipoprotein cholesterolemia, and more attention of the prevention of dyslipidemia in this populations should be paid to males, border-line abnormal and those aged over 60-year old.

[Association of the genetic variations of bone morphogenetic protein 7 gene with diabetes and insulin resistance in Xinjiang Uygur population].

OBJECTIVE: To investigate the association between the genetic variations of the functional region in bone morphogenetic protein gene (BMP7) with type 2 diabetes mellitus in Chinese Uygur individuals. METHODS: A case-control study was conducted based on epidemiological investigation. A total of 717 Uygur subjects (276 males and 441 females) were selected and divided into two groups: diabetes mellitus group (n = 502, 191 males and 311 females) and control group (n = 215, 85 males and 130 females). All exons, flanking introns and the promoter regions of (BMP7) gene were sequenced in 48 Uygur diabetics. Representative variations were selected according to the minor allele frequency (MAF) and linkage disequilibrium and genotyped using the TaqMan polymerase chain reaction method in 717 Uygur individuals, a relatively isolated general population in a relatively homogeneous environment and a case-control study was conducted to test the association between the genetic variations of (BMP7) gene and type 2 diabetes mellitus. RESULTS: Five novel and 8 known variations in the (BMP7) gene were identified. All genotype distributions were tested for deviations from Hardy-Weinberg equilibrium (P> 0.05). There was significant difference of genotype distribution of rs6025422 between type 2 diabetes mellitus and control groups in the male population (P< 0.05, P adjusted > 0.05), but there was no difference in total and female population (P> 0.05). And the means of fasting blood glucose (FBG), fasting insulin and HOMA-index significantly decreased in individuals with AA, AG and GG genotypes of rs6025422 in male population (P< 0.05), but not in total and female population (P> 0.05). The logistic regression analysis showed that GG genotype of rs6025422 variation might be a protective factor for diabetes in male (OR= 0.637, 95% confidence interval 0.439-0.923, P< 0.05). CONCLUSION: The present study suggests that the rs6025422 polymorphism in (BMP7) gene may be associated with diabetes mellitus and insulin resistance in Uygur men.

[Genetic variations of bone morphogenetic protein 7 gene are associated with hypertriglyceridemia of Uygur Chinese in Xinjiang].

OBJECTIVE: To analyze the association between the genetic variations of functional region in bone morphogenetic protein (BMP7) gene and dyslipidemia in Chinese Uygur individuals. METHODS: The case-control study was conducted in 1514 Uygur Chinese based on epidemiological investigation. The all exons, segmental introns and the promoter regions of BMP7 gene were sequenced in 48 out of 1514 Uygur Chinese. Representative variations were then selected according to the minor allele frequency (MAF) and linkage disequilibrium, and genotyped using the TaqMan polymerase chain reaction method in 1514 Uygur Chinese, a relatively isolated general population in a relatively homogeneous environment, to observe the association between genetic variations of BMP7 gene and dyslipidemia. RESULTS: Five novel and eight known variations in the BMP7 gene were identified. All genotype distributions were tested for deviations from Hardy-Weinberg equilibrium. There were significant differences of genotype distribution of rs6025422 between hypertriglyceridemia group and control group (P = 0.001). The levels of triglyceride (TG) showed a decreasing tendency in individuals with AA, AG and GG genotypes of rs6025422. Odd ratio (OR) value adjusted for age, gender, body mass index, smoking and alcohol drinking habits was 0.562 by logistic regression analysis (95%CI: 0.393 - 0.802, P = 0.002). CONCLUSION: The present study shows rs6025422 polymorphism in the BMP7 gene is linked with hypertriglyceridemia phenotype in Uygur Chinese population.

[Negative association of STAMP2 gene polymorphisms with essential hypertension in Xinjiang Uygur population].

OBJECTIVE: To investigate the relationship between the genetic polymorphisms of the six transmembrane protein of prostate 2 gene (STAMP2) and essential hypertension in Xinjiang Uygur population. METHODS: The sequences of STAMP2 gene functional region were sequenced in Xinjiang Uygur population with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 2047 Uygur individuals, including 810 patients with hypertension and 1237 healthy subjects. The association of the genetic variations of the STAMP2 gene with hypertension in Uygur was analyzed. RESULTS: In the three representative variations (rs8122, rs1981529 and rs34741656) genotyped, there were no significant differences in genotype distribution and allele frequencies between the essential hypertension and control groups (P > 0.05). In ANCOVA analysis, none of the polymorphisms was significantly associated with systolic blood pressure and diastolic blood pressure (P > 0.05). There were no significant differences in haplotype frequencies between the two groups either(P > 0.05). CONCLUSION: There was no association of the three polymorphisms (rs8122, rs1981529 and rs34741656) in the STAMP2 gene with essential hypertension in Xinjiang Uygur population.

[Genetic variation and association of STEAP4 gene with metabolic syndrome in Chinese Uygur patients].

OBJECTIVE: To investigate the genetic variations of the six transmembrane epithelial antigen of prostate 4 gene (STEAP4) in Chinese Uygur patients with metabolic syndrome (MetS) and to analyze the association of the representative genetic variations of STEAP4 gene with MetS in the population. METHODS: The sequences of STEAP4 gene functional region (all exons, exon-intron boundaries and the putative promoter region, including the -1 kb 5'and 3'untranslated regions) were amplified and sequenced for patients with MetS. The representative variations were selected based on the function (missense mutation) and linkage disequilibrxium (γ² > 0.8) and genotyped with TaqMan-PCR method in 1910 general populations (682 MetS and 1228 non-MetS controls). The subjects were selected from the cross-sectional study of obesity, hypertension, diabetes, dyslipidemia from January to February 2007 among Uygur people, a relatively isolated population with a relatively homogeneous environment, in Hextian area in Xinjiang Uygur Autonomous Region. RESULTS: (1) Fourteen novel and six known single nucleotide polymorphisms (SNPs) or mutations, including 2 missense mutations, were identified at the functional region of STEAP4 gene in 96 Uygur patients with MetS. The minor allele frequencies of the SNPs of STEAP4 gene in Uygur population were different from that in European and Chinese Han in Beijing area. (2) The SNP 364G/A (rs34741656, Ala122Thr) was significantly associated with MetS [dominant model P = 0.034, OR = 0.757(95%CI: 0.584-0.982) adjusted for age and gender], and was associated with fasting blood glucose (FBG) (P = 0.049) and 2-hour postprandial glucose (2HPG) (P = 0.027) levels in controls. In this SNP, the AA carriers had lower blood glucose levels compared with subjects carrying GG and GT genotypes. (3) The common haplotype H4 (rs8122/rs1981529/ rs34741656, G-A-A), may be associated with MetS (permutation P = 0.089). CONCLUSION: STEAP 4 genetic polymorphisms may be associated with MetS risk in Chinese Uygur population.

[The risk factors of carotid atherosclerosis in sleep apnea-related hypertension].

OBJECTIVE: To investigate the risk factors and morbidity of carotid atherosclerosis (CA) and unstable plaque in patients with sleep apnea-related hypertension (SA-RH). METHODS: A total of 603 SA-RH subjects screened by polysomnography according to apnea hypopnea index (AHI) were recruited and divided into 3 groups: mild (AHI 5 - 15), moderate (AHI 15 - 30) and severe (AHI ≥ 30) group, with hypertensive patients with AHI less than 5 served as control. CA was determined by doppler ultrasound as formation of plaque and/or intima-media thickness more than 0.9 mm. Unstable atheroma plaque (UAP) was defined as low echo plaque and/or admixing echo plaque. RESULTS: Gender, age, BMI and blood pressure were not matched among groups. The prevalence of CA increased in moderate and severe SA-RH than that in control (P < 0.01) with no significant difference for UAP among groups. Factor analysis was performed to extracted common factors that may influence CA and UAP, such as factor 1-6, represent obstructive sleep apnea (OSA), dyslipidemia (TC, LDL), BMI, blood pressure, age and duration of disease and dyslipidemia (TG, HDL) respectively. Logistic analysis show that OSA and dyslipidemia (TC, LDL) increased the risk of CA, with OR 1.36 (95%CI 1.15 - 1.59), 1.31 (95%CI 1.12 - 1.54) respectively, and dyslipidemia (TC, LDL) increased the risk of UAP, with OR 1.30 (95%CI 1.06 - 1.58). CONCLUSIONS: In SA-RH populations, higher prevalence of CA may be associated with severity of OSA independently, meanwhile the formation of UAP may be mainly associated with dyslipidemia.

Detection of genetic variations of regulator of G-protein signaling 2 in hypertensives by sequencing / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the new genetic variations of regulator of G-protein signalling 2 (RGS2) gene in Kazakh hypertensives.</p><p><b>METHODS</b>Totally 94 Kazakh patients with essential hypertension were enrolled and genomic DNA was extracted from their peripheral blood leukocytes. All the exon regions and their flanking sequences of RGS2 were directly sequenced.</p><p><b>RESULTS</b>We identified 13 variants including 5 common- single nucleotide polymorphisms with a minor allele frequency over 5%single nucleotide polymorphisms and 8 novel variations in 94 Kazakh hypertensives. Among these variations, 2 were in the introns and 7 in the promoter region. One subject had a G-to-C substitution at nucleotide 54 in exon 1, which lead to an amino acid substitution from K-to-N at position 18; another individual had an A-to-G substitution at nucleotide 2422 in exon 5, resulting in an amino acid from Y-to-C at position 178. Among eight common single nucleotide polymorphisms, -638A>G, -395G>C, 1891-1892TC I/D, and 2971G>C,and -43A>T and 2297A>G were in tight linkage disequilibrium with an r-square of more than 0.8, respectively.</p><p><b>CONCLUSIONS</b>The variants and their frequencies in RGS2 gene in Kazakh hypertensives may have ethnic differences when compared with other populations. The frequencies of the mutations are low in this population, and whether they influence blood pressure regulation requires further functional experiments.</p>

[Serum neuropeptide Y level in hypertensive patients with obstructive sleep apnea syndrome].

OBJECTIVE: To explore the potential role of neuropeptide Y (NPY) in the pathophysiological process of hypertension caused by obstructive sleep apnea syndrome (OSAS). METHODS: The concentration of serum NPY were measured with radioimmunoassay (RIA) in 417 subjects (97 normotensive controls without OSAS, 113 cases of normotensive with OSAS, 73 cases of hypertensive without OSAS and 134 cases of hypertensive with OSAS. Further, the mean NPY level were compared in four groups and the possible effective factors on NPY were discussed. RESULTS: (1) The concentration of NPY in four groups were (50.5 +/- 37.2) pmol/L in normal controls, (76.0 +/- 39.9) pmol/L in normotensive with OSAS group, (66.9 +/- 36.2) pmol/L in hypertensive without OSAS group and (86.8 +/- 36.8) pmol/L in hypertensive with OSAS group. Whether the patients with OSAS combined with hypertension or not, the concentration of NPY in the serum raised remarkably compared with those without OSAS and hypertension, the highest level of serum NPY was detected in OSAS combined with hypertension group. (2) Pearson correlation analysis indicated that both SBP and DBP related to the serum NPY significantly in non-OSAS group (AHI <10), while the BMI, abdominal circumference, AHI as well as the lowest level of SaO2 correlated to NPY besides SBP in OSAS group with (AHI > or =10). (3) Multiple linear regression model showed that the abdominal circumference and AHI were contributing factors to SBP, while neck circumference and BMI were contributing factors to DBP. The level of NPY in the serum were significantly affected by AHI and BMI, in which the former one had greater influence. CONCLUSION: The increased level of serum NPY may play weakly potential roles in the pathophysiological process of hypertension caused by OSAS.

The prevalence of hypertension, obesity and dyslipidemia in individuals of over 30 years of age belonging to minorities from the pasture area of Xinjiang.

BACKGROUND: The prevalence of population-wide hypertension, obesity and dyslipidemia has not been well studied in the pasture area of Xinjiang. The present epidemiological study was performed to determine the prevalence of hypertension, obesity and dyslipidemia in minority populations from the pasture area of Xinjiang and to discuss the potential risk factors for hypertension. METHODS: A population-based, cross-sectional study in the Xinjiang pasture area was performed which included 2251 participants aged over 30 years (90.33% participation rate) of whom 71.26% were Kazaks. Several risk factors were considered: hypertension (defined as systolic or diastolic blood pressure or both of at least 140/90 mmHg measured on one occasion or treatment for hypertension) overweight/obesity (body mass index > or = 25 kg/m2) alcohol intake, smoking/tobacco use and dyslipidemia. Outcomes were prevalence of hypertension, obesity and dyslipidemia and the associated risk factors of hypertension detected by multivariate logistic regression analysis taking into account various metabolic and lifestyle characteristics. RESULTS: The prevalence of hypertension, overweight/obesity and dyslipidemia in all participants from the pasture area of Xinjiang was 51.9%, 47.9% and 49.2% respectively. Independently, the prevalence and awareness of hypertension was 52.6% and 15.3% among Kazaks (n = 1604), 54.6% and 14.1% among Uygurs (n = 418), 39.5% and 16.1% among Mongolians (n = 81) and 43.9% and 18.2% among non-Xinjiang-born Han immigrants (n = 148). The prevalence of overweight/obesity in Kazaks, Uygurs, Mongolians and Han immigrants was 46.7%, 48.9%, 62.5% and 50.3%, respectively. The prevalence of dyslipidemia in the four ethnic groups mentioned was 53.5%, 34.8%, 49.3% and 47.3%, respectively. The mean blood pressure in all participants was 136/86 mmHg (pre-hypertensive), the mean BMI was 24.7 kg/m2. Based on multiple logistic regression analysis, the significant risk factors for hypertension were age [1.07(1.06-1.09), P < 0.0001], overweight/obesity [overweight: 1.61(1.22-2.13), p = 0.0007; obesity: 1.95 (1.33-2.87), p = 0.0007], hypercholesterolemia [1.30(1.15-1.47), p < 0.0001] and an alcohol intake of over 30 g/day [2.22(1.43-3.45), p = 0.0004]. CONCLUSIONS: The considerably high prevalence of hypertension, overweight/obesity and dyslipidemia among the minority population aged over 30 from the pasture area of Xinjiang calls for effective preventive measures. Age, increased body mass index, hypercholesterolemia and > or =30 g/d alcohol intake can be counted as risk factors for hypertension, but further genetic or environmental clarification would be desirable to explain the unusually high prevalence of the conditions mentioned above.

[Research advances in the origin and formation of brown adipose].

Brown adipose tissue contributes to energy balance in humans by generating heat via the mitochondrial uncoupling of lipid oxidation. Currently it is believed that brown adipose has two origins: Myf5-negative progenitor (its source is same as that of white adipocyte) and Myf5-positive progenitor (its source is same as myocyte). Due to the different origins of brown adipocytes, they may be formed via multiple pathways which include the main pathway (by which Myf5-positive progenitors differentiate into brown adipocytes that distribute in classical locations) and alternative pathway (by which Myf5-negative progenitors differentiate into brown adipocytes that distribute in white adipose tissue).