Association of uncoupling protein gene polymorphisms with essential hypertension in a northeastern Han Chinese population.

Uncoupling proteins (UCPs) belong to the family of mitochondrial transporter proteins and mediate regulated proton leak across the inner mitochondrial membrane. The UCPs play an important role in energy homeostasis and reactive oxygen species (ROS) release, and have been established as candidate genes for obesity, diabetes and hypertension. This study examined the possible association between the single nucleotide polymorphisms (SNPs) of UCP1-3 genes and essential hypertension (EH) in a northeastern Han Chinese population. A total of 2207 Chinese Han subjects were enrolled, including 1045 normotensives and 1162 hypertensives. Genotyping of UCP1 rs1800592, UCP1 rs12502572, UCP2 rs659366, UCP2 rs660339, and UCP3 rs3781907 was detected using Sequenom MassArray System. SHEsis was used to analyze linkage disequilibrium and haplotype. No evident association was observed between the genotype distributions and allele frequencies of individual SNPs and EH. Haplotype analysis showed the haplotype GAATA (rs1800592-rs12502572-rs659366-rs660339-rs3781907) was significantly associated with lower EH risk (p = 0.001, χ2 = 10.861, OR = 0.634, 95% CI = 0.483-0.833), and AGATG was associated with increased EH risk (p = 0.012, χ2 = 6.287, OR = 1.265, 95% CI = 1.052-1.521). These findings suggest haplotypes of UCP1-3 genes are linked to EH risk in a northeastern Han Chinese population. Further investigation with larger sample size in multiethnic population is needed to confirm our results.

Hypermethylation of multiple tumor-related genes associated with DNMT3b up-regulation served as a biomarker for early diagnosis of esophageal squamous cell carcinoma.

This study was designed to determine the significance of DNA methyltransferases (DNMTs) in DNA hypermethylation in esophageal squamous cell carcinoma (ESCC) and to identify DNA methylation markers in serum for the early diagnosis of ESCC. A promoter methylation profile of 12 tumor-related genes was assessed using methylation-specific PCR in ESCC and paired non-tumor tissue samples from 47 patients. Expression levels of DNMTs were examined by real-time reverse transcription-PCR and immunohistochemistry. Using MethyLight, the methylation status of 5 genes was analyzed in serum samples from 45 patients and 15 healthy individuals. A total of 46 (97.9%) of 47 ESCC samples showed methylation in at least one of the examined genes, and methylation was most frequent for RAR-ß (46.8%), DAPK (46.8%), p16 (44.7%), and CDH1 (42.6%). Methylation of RASSF1A was significantly correlated with the poorly differentiated tumors and the early pathologic tumor classification (P=0.035 and P=0.046, respectively). Tumoral DNMT3b mRNA up-regulation was significantly correlated with hypermethylation of multiple tumor-related genes (P=0.021). In addition, hypermethylation of cell-free serum DNA was common in ESCC patients, and diagnostic accuracy was increased when methylation of multiple genes (RAR-ß, DAPK, CDH1, p16 and RASSF1A) were analyzed in combination (ROC AUC 0.911, 82.2% sensitivity and 100% specificity). The present study suggests that hypermethylation of multiple tumor-related genes may be involved in the pathogenesis of ESCC and mediated by the increase of DNMT3b expression. A cluster of multiple methylated genes in serum DNA has the potential as a novel biomarker for ESCC diagnosis.

[Association of aldosterone synthase (CYP11B2) gene -344T/C polymorphism with essential hypertension in Mongolian nationality].

OBJECTIVE: To explore the relationship between the -344T/C polymorphism of aldosterone synthase (CYP11B2) gene and essential hypertension in Chinese Mongolian population. METHODS: By cluster-sampling method, a total of 1575 Mongolian people in Tongliao city of Inner Mongolia were included in this study. And 417 subjects were normotension, 596 subjects were prehypertension and 562 subjects were essential hypertension. A survey was conducted to collect data by personal interview using a standard questionnaire, meanwhile fasting blood samples were drawn. Height, weight, waist circumference, blood pressure, blood-fat indexes and fasting plasma glucose were measured. The variant genotypes of CYP11B2 were identified by PCR assays. The relationship between the -344T/C polymorphism of CYP11B2 gene and essential hypertension were analyzed by multinomial logistic regression model. RESULTS: Crude prevalence of prehypertension among Mongolian people was 37.84% (596/1575) and hypertension was 35.68% (562/1575). The age-standardized prevalence of prehypertension was 38.57% and hypertension was 31.53%. The frequency of the T and C allele was 0.66 (481/728) and 0.34 (247/728) for normotension group, 0.69 (696/1042) and 0.33 (346/1042) for prehypertension group, 0.71 (706/998) and 0.29 (292/998) for hypertension group. The multiple logistic models showed CYP11B2 variant genotypes were associated with prehypertension (TT/CC, OR = 1.33, 95%CI: 0.87 - 2.01; TC/CC, OR = 1.74, 95%CI: 1.13 - 2.67; TC + TT/CC, OR = 1.49, 95%CI: 1.01 - 2.22); CYP11B2 variant genotypes were associated with hypertension (TT/CC, OR = 1.70, 95%CI: 1.07 - 2.70; TC/CC, OR = 1.59, 95%CI: 0.98 - 2.50; TC + TT/CC, OR = 1.66, 95%CI: 1.06 - 2.58). CONCLUSION: CYP11B2 gene -344T/C polymorphism were associated with essential hypertension in Chinese Mongolian population.

[Strong association between the NINJ2 gene polymorphism and the susceptibility of stroke in Chinese Han population in Fangshan district].

OBJECTIVE: To investigate the association between the NINJ2 gene rs11833579 polymorphism and stroke in Han Chinese population. METHODS: This study was a population-based cross-sectional case-control study. Polymerase chain reaction-restriction fragment length polymorphism (RFLP) and sequencing were used for the detection of NINJ2 genotypes in 790 patients with stroke (679 ischemic stroke) which were Han Chinese population from Fangshan First Hospital and 811 controls which were healthy Han Chinese population without family history of stroke in Fangshan district rural area. RESULTS: In rs11833579 locus of the NINJ2 gene, the frequencies of GG genotype and allele G were higher in ischemic stroke patients than that in controls (P<0.001). The frequency of allele G of the NINJ2 gene was higher in cerebral hemorrhage patients than that in controls (P=0.005). Genotype had little effect on the glucose, total cholesterol and triglyceride. CONCLUSION: There is significant association between rs11833579 site polymorphism of the NINJ2 gene and risk for stroke in Han Chinese population from Fangshan district.

Association of the renin gene polymorphism, three angiotensinogen gene polymorphisms and the haplotypes with essential hypertension in the Mongolian population.

Renin is a rate-limiting enzyme of the renin-angiotensin system and plays a crucial role in the regulation of blood pressure (BP). Angiotensinogen (AGT) is the precursor of potent vasoactive hormone angiotensin II and the AGT gene has been incriminated as a marker for genetic predisposition to essential hypertension (EH) in some ethnic groups. The purpose of the study is to explore the association of a new genetic marker of renin gene, and AGT gene M235T, A-6G, and A-20C polymorphisms and their haplotypes with EH in the Mongolian population. On the basis of the prevalence survey, 243 hypertensives and 258 normotensives who had no blood relationship with each other were selected as subjects. All the subjects were interviewed with questionnaires and their blood specimens were collected. Renin gene insertion/ deletion (I/D) polymorphism was genotyped by PCR-polyacrylamide gel electrophoresis. AGT gene M235T, A-6G, and A-20C polymorphisms were genotyped by a PCR-restriction fragment length polymorphism and single-strand conformation polymorphism. The frequencies of renin genotype DD and allele D in hypertensives (36.21%, 63.79%, respectively) were significantly higher than those in normotensives (29.84%, 57.17%, respectively, P < 0.05). The odds ratios (OR) of renin genotype ID, DD to renin genotype II on hypertension were 1.98 (OR 95% CI 1.08-3.72) and 2.51 (OR 95% CI 1.33-4.88), respectively. There were no significant differences in the distributions of genotypes and alleles for AGT gene M235T, A-6G, and A-20C polymorphisms and all different haplotypes between the two groups. Renin gene I/D polymorphism is associated with EH, whereas AGT gene M235T, A-6G, and A-20C polymorphisms and the haplotypes are not associated with EH in the Mongolian population.

Endothelial nitric oxide synthase gene polymorphisms associated with susceptibility to high altitude pulmonary edema in Chinese railway construction workers at Qinghai-Tibet over 4 500 meters above sea level / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To examine whether the polymorphisms of endothelial nitric oxide synthase (eNOS) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Chinese railway construction workers at Qinghai-Tibet where the altitude is over 4 500 m above sea level.</p><p><b>METHODS</b>A case-control study was conducted including 149 HAPE patients in the construction workers and 160 healthy controls randomly recruited from their co-workers, matching the patients in ethnicity, age, sex, lifestyle, and working conditions. Three polymorphisms of eNOS gene, T-786C in promoter, 894G/T in exon 7, and 27bp variable number tandem repeat (VNTR) in intron 4, were genotyped using polymerase chain reaction (PCR) and confirmed with DNA sequencing.</p><p><b>RESULTS</b>The frequencies of 894T allele and heterozygous G/T of the 894G/T variant were significantly higher in HAPE patients group than in the control group (P=0.0028 and P=0.0047, respectively). However, the frequencies of the T-786C in promoter and the 27bp VNTR in intron 4 were not significantly different between the two groups. Haplotypic analysis revealed that the frequencies of two haplotypes (H3,T-T-b, b indicates 5 repeats of 27 bp VNTR; H6, C-G-a, a indicates 4 repeats of 27 bp VNTR) were significantly higher in HAPE patients (both Pü0.0001). On the contrary, the frequencies of H1 (T-G-b) and H2 (T-G-a) were lower in HAPE patients than in healthy controls (both Pü0.001).</p><p><b>CONCLUSIONS</b>Two haplotypes (T-T-b and C-G-a) may be strongly associated with susceptibility to HAPE. Compared with the individual alleles of eNOS gene, the interaction of multiple genetic markers within a haplotype may be a major determinant for the susceptibility to HAPE.</p>

Genetic interaction of Hsp70 family genes polymorphisms with high-altitude pulmonary edema among Chinese railway constructors at altitudes exceeding 4000 meters.

BACKGROUND: High-altitude pulmonary edema (HAPE) is thought of as an independent clinical disorder with a constitutional or genetic component in its etiology. We focused on 5 common polymorphisms within HSPA1A (rs1043618 and rs1008438), HSPA1B (rs1061581 and rs539689) and HSPA1L (rs2227956) of Hsp70 family to explore their potential interaction upon susceptibility to HAPE in Chinese. METHODS: A total of 148 HAPE patients and 483 matched controls were recruited during the construction of Qinghai-Tibet railway from 2001 to 2006. Genotyping was performed using PCR-RFLP, PCR-SSCP and PCR-direct-sequencing techniques. Promoter activity was evaluated by luciferase reporter assays. Gene-gene interaction was conducted by MDR v.2.0, and haplotype-diplotype analysis by Haplo.stats v.1.4.0. RESULTS: Significant differences were observed in the genotype (P=0.0136) and allele (P=0.0299) distributions of rs1008438, and in rs1061581 allele distribution (P=0.0421) between HAPE patients and controls. Interaction analysis indicated that 3 polymorphisms (rs1061581, rs1043618 and rs1008438) shared strong synergism with a testing accuracy of 0.792 and cross-validation consistency 10 out of 10 (P=0.001). Haplotypes Hap4 (G-C-A, in order of rs1061581, rs1043618 and rs1008438) and Hap5 (G-G-A) had an 86% reduced risk (P=0.0009) against and Hap7 (A-C-C) had a 2.43-fold increased risk for HAPE. When considered as diplotypes, significance was noted for Dip5 (Hap1-Hap7) (OR=3.39; 95% CI: 1.28-9.17; P=0.0140). Functional assessment supported the involvement of rs1008438 in the pathogenesis of HAPE. CONCLUSION: We demonstrated strong interaction of rs1061581, rs1043618 and rs1008438 polymorphisms within Hsp70 family upon susceptibility to HAPE in Chinese. Moreover, polymorphism rs1008438 might cause the development of HAPE via a change in HSPA1A promoter activity.

[Association study between HLA-DRB genes and asthmatic children].

OBJECTIVE: To investigate the distribution of HLA-DRB alleles among the asthmatic children and find the alleles with a correlation with susceptibility or resistance to childhood asthma. METHODS: The sequence-specific polymerase chain reaction (SSP-PCR) was used to analyze the HLA-DRB genotype in 117 asthmatic children and 120 healthy children in Beijing. Then the frequency of each type, odds ratio (OR) and the 95% confidence interval (CI) of OR were calculated. RESULTS: The frequency of DR2 (15) in the asthmatic children was 12.0% (28/234) vs 5.4% (13/240) in the healthy children. The frequency was significantly higher than that of nonasthmatic children (OR = 2.590, 95% CI = 1.266-5.298, Chi(2) = 6.431, P < 0.05). Conversely, the frequencies of DR4, DR6 (1402), DR9 and DR53 in asthmatic children [9.4% (22/234), 0.9% (2/234),17.1% (40/234), 29.5% (69/234)] were significantly lower than that of the healthy children [16.3% (39/240), 5.0% (12/240), 31.3% (75/240), 44.2% (106/ 240)], P = 0.026, 0.008, 0.000, 0.001, OR = 0.481, 0.157, 0.312, 0.190. Multi-variate logistic regression demonstrated that the 95% CI of OR for each allele was 1.010-2.245, 0.757-1.116, 0.603-1.054, 0.855-1.014, 0.971-1.010, respectively. CONCLUSION: The allele HLA-DR2 (15) is correlated with the susceptibility to childhood asthma whereas it is not related with the severity of asthma.

[Impact of gene-environment interaction between the C (-344) T polymorphism of CYP11B2 and drinking index on the risk of hypertension under multifactor dimensionality reduction model in Chinese Mongolian population].

OBJECTIVE: To explore the interaction between C (-344) T polymorphism of CYP11B2 and drinking index (DI) as well as their impact on the risk of hypertension in Chinese Mongolian population. METHODS: A total of 1575 Mongolian people aged 20 and older including 562 hypertensive and 1013 normal-tensive from agricultural and pastoral areas in Tongliao city of Inner Mongolia, were included in this study. A cross-sectional survey was conducted to collect data by personal interview with local residents, using a standard questionnaire. Fasting blood samples were drawn and height, weight and blood pressure were measured. The variant genotypes of CYP11B2, ACE and eNOS were identified by PCR assays. Gene-environment interactions were analyzed, using multifactor dimensionality reduction (MDR) model. Based on the result of the best MDR model, a multiple logistic regression model was constructed as the final cause-effect interpretative model. RESULTS: The interaction between CYP11B2 variant genotype and drinking index appeared the best MDR model with statistical significance (chi(2) = 66.35, P < 0.01). Testing balance accuracy of the model was 0.604. The cross-validation consistency was 10/10. Data from the final multiple logistic regression based on the MDR model showed that the main effects of both CYP11B2 variant genotype and the DI were not significantly different but the interaction between the genotype (TC) and the DI (90-) was, with regard to hypertension (OR, 10.25; 95%CI, 2.23 - 47.18; P = 0.003). The combined effects between CYP11B2 variant genotype and the DI showed that following indices as: genotype TT or TC combining non-zero drinking index, including genotype (TT) combining the drinking index (> or = 168), the genotype (TT) combining the drinking index (> or = 40), the genotype (TT) combining the drinking index (> or = 1) and the genotype (TC) combining the drinking index (> or = 90), were all risk factors of hypertension when comparing with genotype (CC) combining the drinking index (0), and the ORs (95%CI) appeared to be 2.07 (1.15 - 3.70), 2.35 (1.22 - 4.56), 2.05 (1.07 - 3.94) and 5.56 (2.54 - 12.18) respectively. CONCLUSION: Essential hypertension might positively be affected by the interaction of the C (-344) T polymorphism of CYP11B2 and the drinking index in Chinese Mongolian population.

Association of ghrelin polymorphisms with metabolic syndrome in Han Nationality Chinese.

OBJECTIVE: To investigate the association of ghrelin gene polymorphisms with metabolic syndrome in Han Nationality Chinese. METHODS: A total of 240 patients with metabolic syndrome and 427 adults aged above forty years were recruited. Genotypes were determined by polymerase chain reaction and restriction fragment length polymorphism analysis. RESULTS: The allelic frequency of the Leu72Met polymorphism was 17.3% in the patient group and 11.9% in the control group (chi2 = 7.36, P = 0.007). Metabolic syndrome was more prevalent among carriers of the Met72 variant (43.8 vs 33.1%, age- and sex-adjusted odds ratio = 1.57, P = 0.01). No Arg51Gln variants were found in our study subjects. CONCLUSION: Rather than being associated with its individual components, Leu72Met polymorphism is associated with metabolic syndrome in the Han Nationality Chinese. Arg51Gln polymorphism is rare in the Han Nationality Chinese.

Identification of a regulatory single nucleotide polymorphism in the adiponectin (APM1) gene associated with type 2 diabetes in Han nationality.

OBJECTIVE: To identify the genetic defects of the the adiponectin (APM1) gene that contribute to the development of type 2 diabetes (T2DM) and determine the functional single nucleotide polymorphisms (SNPs) in the APM1 gene associated with T2DM in Han nationality. METHODS: The APM1 gene 5'-UTR was screened by direct sequencing to identify common polymorphisms. Identified SNPs were genotyped in 585 nondiabetic controls, 278 subjects with impaired glucose intolerance (IGT) and 212 patients with T2DM. The functions of SNPs in the regulatory region were assessed by reporter gene assay. Possible association between SNPs and plasma APMI levels or metabolic parameters was statistically assessed. RESULTS: Three SNPs were identified in the APM1 gene 5'-UTR. A case-control study revealed that SNP -11377 G/C had significant differences in allele frequencies between T2DM patients and nondiabetic controls (G 0.314/C 0.686 vs. G 0.265/C 0.735, P=0.03). Haplotype analysis of three SNPs in the APM1 gene showed that no significant association of haplotypes with T2DM. IGT was detected in the present study. Reporter gene assay showed that SNP did not influence the transcription efficiency in the 3T3-L1 cell line. CONCLUSION: SNP -11377 G/C in the proximal promoter region of the APM1 gene contributes to the development of T2DM in Han nationality but may not be a functional SNP in the APM1 gene.

[Relationship between aldosterone synthase gene (CYP11B2) polymorphisms and essential hypertension in a northern Chinese Han population].

OBJECTIVE: To explore the relationship between genetic polymorphisms of C-344T in the promoter region and K173R in the exon 3 of aldosterone synthase gene (CYP11B2) and the incidence of essential hypertension in a northern Chinese Han population. METHODS: We conducted a case-control study including 182 hypertensive patients and 189 healthy controls in Harbin newspaper office and assayed the genotypes of C-344T and K173R using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing technology. RESULTS: The distributions of C-344T and K173R genotype frequencies in men and women were in accordance with the Hardy-Weinberg equilibrium. The differences of C-344T allele and genotype as well as K173R allele frequency distributions between hypertensive patients and healthy controls were not statistically significant in men and women and pooled population (P > or = 0.05). The difference of K173R genotype frequency distribution reached borderline significance (P = 0.0500) and was more pronounced in women (P = 0.0038) according to the dominant mode of inheritance. Moreover, the magnitude of this mode of inheritance was more remarkable after the confounding factors were adjusted. K173R statistically correlated with the systolic hypertension in women. CONCLUSION: The CYP11B2 K173R polymorphism correlates with the susceptibility of essential hypertension in the northern Chinese Han population.

Multiple risk factor clustering and risk of hypertension in the Mongolian ethnic population of China.

OBJECTIVE: To evaluate whether the clustering of risk factors, both environmental and genetic, increases the risk of essential hypertension (EH) and the accumulation of risk factors influences the blood pressure level in normotensives. METHODS: On the basis of a prevalence survey, 501 subjects of Mongolian ethnicity (243 hypertensives and 258 normotensives) who were not related to each other were selected to conduct a case-control study. All subjects were interviewed with questionnaires and their blood specimens were collected. Renin gene insertion/deletion (I/D) polymorphism, a new genetic marker, was genotyped with PCR and polyacrylamide gel electrophoresis. RESULTS: Overweight, alcohol consumption, and renin gene I/D polymorphism were significant risk factors of EH (P<0.05). The odds ratios (OR) for the number of risk factors were 2.39 (95%CI: 0.98-6.74) for one risk factor, 5.03 (95%CI: 2.06-14.18) for two, and 6.09 (95%CI: 1.85-22.38) for three respectively after adjusting for age and sex. In normotensives, age- and sex-adjusted mean blood pressures increased with more accumulation of risk factors. However, there were no significant differences among the different blood pressure levels according to the number of risk factors (P>0.05). CONCLUSION: Overweight, alcohol consumption, and renin gene I/D polymorphism are risk factors of EH in the Mongolian ethnic population of China. The accumulation of the risk factors causes a sharp increase of the risk of EH.

[Comparative study of APOB gene 3'VNTR polymorphisms between natural longevity and controls in Uighur nationality].

OBJECTIVE: To investigate the association of polymorphisms in the apolipoprotein B gene (APOB) 3'variable number of tandem repeat with natural longevity in the Xinjiang Uighur nationality people. METHODS: Totally 191 healthy individuals over 90 years and 53 individuals aged 65-70 years were recruited among Xinjiang Uighur population, the nationality, gender and living area were matched. Genotyping was performed using polymerase chain reaction-sequence specific primer(PCR-SSP) and PCR-sequencing. RESULTS: Fourteen alleles were found in the Xinjiang Uighur nationality population. The frequency of HVE36 and HVE42 in the natural longevity group were significantly higher than that in the control group (both P<0.05) and HVE44, HVE46, HVE48 and HVE58 were only found in the natural longevity group. However, the frequency of HVE26, HVE30 and HVE34 were markedly lower in the natural longevity group compared to the control group. Logistic regression analyses revealed that allele L and the genotypes LL were positively associated with age, whereas the allele S and genotype SS were negatively associated with age (both P<0.05). Each allele consists of 15 bp tandem repeats with rich-AT by PCR-sequencing. CONCLUSION: These results indicate that the S allele, and SS genotype are frail factors in China Uighur natural longevity people, whereas allele L and genotypes LL are protective factors.

Association of angiotensin converting enzyme gene I/D polymorphism with type 2 diabetes mellitus.

OBJECTIVE: To investigate the association of angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism with type 2 diabetes mellitus (T2DM). METHODS: Two hundred and nine patients with T2DM diagnosed based on the criteria for diabetes mellitus in 1999 by WHO and 221 controls were recruited from general population of Dongcheng District in Beijing. All subjects were genotyped for the I/D polymorphism of ACE gene by PCR-fragment length polymorphism (FLP) assay. Blood pressure, levels of plasma glucose, lipids and serum insulin were determined. Body mass index (BMI), waist-hip ratio (WHR) and homeostasis model assessment-insulin resistance index (HOMA-IR) were calculated. RESULTS: The genotype frequencies for ACE genes DD, ID, and II were 19.1%, 42.1%, and 38.8% in patients, respectively, and 9.6%, 49.4%, and 41.0% in controls, respectively. The ACE DD genotype frequency was significantly higher in patients than in controls (chi2 = 7.61, P = 0.022). Multivariate logistic regression analysis showed that the ACE DD genotype was a risk factor for T2DM, with the OR of 2.35 (95% CI 1.17-4.71) adjusted for age, sex, BMI, WHR, blood pressure, and serum cholesterol levels. CONCLUSION: The ACE DD genotype is associated with the increased susceptibility to type 2 diabetes mellitus.

[Susceptible genes of essential hypertension].

Essential hypertension (EH) is a complex multifactorial disorder with genetic and environmental factors contributing to its prevalence. The genetic features have been revealed from the significant familial aggregation and the consistency among twins. Therefore, identification of EH susceptibility genes will be helpful to understand the pathophysiology of the disease, identify populations with potential risks of developing the disease, and select antihypertensive drugs. The present article introduces the search strategies of EH susceptibility genes and some genetic variants related to EH; meanwhile, it tries to analyze the difficulties and the role for samples in identifying susceptibility genes to EH.

[Physiological characteristics and cardiac electrophysiology manifested in Minnesota coding of the "desert people" in Taklimakan Desert: study of 224 cases].

OBJECTIVE: To study the physiological characteristics and cardiac electrophysiology of the "desert people" in Taklimakan Desert, an isolated population of Uygurs. METHODS: Two hundred and twenty-four out of the 1030 "desert people", 133 males aged 37.8 +/- 17.5 (15-99) and 91 females aged 34.1 +/- 12.1 (27-85), underwent measurement of height, body weight, waist circumference, and blood pressure. Twelve-lead resting electrocardiogram was obtained and Minnesota coding was conducted. 150 Kariya Uygurs, 76 males aged 50.7 +/- 15.6 (27-85) and 75 females aged 46.6 +/- 11.7 (24-69) were used as controls. RESULTS: The abnormal Minnesota coding rate in the "desert people" as a whole was 46.0%, significantly higher than that of the controls (35.1%, P < 0.05). In the "desert people", the abnormal Minnesota coding rate was 54.9% in the males, significantly higher than that in the females (33.0%, P < 0.05). In the control group, the abnormal coding rate was 28.0% in the females and 42.1% in the males. The ECG high left R amplitude rate (code 3-1, 3-3) of the "desert people" as a whole was 32.6%, significantly higher than that of the controls (12.6%, P < 0.001). Within the "desert people" group, the ECG high left R amplitude rate of the females was 19.8%, significantly lower than that of the males (41.2%, P < 0.005). Within the control group, the ECG high left R amplitude rate of the females was 10.7%, not significantly different from that of the males (14.5%, P > 0.5). The hypertension rate of the "desert people" was 7.6%, significantly lower than that of the controls (36.4%, P < 0.005). The hypertension rate of the "desert people" coded as with left high R amplitude was 12.2%, significantly lower than that of the controls coded as with left high R amplitude (41.6%, P < 0.005). The overweight and obesity rate of the "desert people" was 9.6%, significantly lower than that of the controls (23%, P < 0.005). The arrhythmia (8-1 - 8-8) rate of the "desert people" was 8.92%, not significantly different from that of the controls (6.62%, P > 0.05). The incidence of conduction block (7-1 - 7-8) of the "desert people" was 3.12%, not significantly different from that of the controls (2.64%, P > 0.05). CONCLUSION: The higher incidence of ECG high left R amplitudes and low prevalence of hypertension in the "desert people" suggest that the high left R amplitude in "Desert people" may be related to their thin chest wall, low BMI, and physiological left ventricular hypertrophy. The "desert people" have more physical work, and less stress and pollution. They have low incidence of congenital heart disease, rheumatic heart disease and hypertension. All these may be associated with a low incidence of arrhythmia.

[Polymorphism of apolipoprotein E gene and natural longevity in the Xinjiang Uighur people: an association study].

OBJECTIVE: To explore the distribution of polymorphisms of apolipoprotein E(apoE) gene and its relation to natural longevity in the Xinjiang Uighur people. METHODS: Using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), the authors obtained data from centenarians(n=42), 90-year-old people (n=102), 65-70-year-old people (n=70) and controls(n=53). RESULTS: The frequencies of apoE genotypes epsilon 3/4, epsilon 3/3 and epsilon 2/3 were 2.4%, 69.0% and 23.8% respectively in the centenarian group, and the frequencies of their epsilon 4, epsilon 3 and epsilon 2 alleles were 1.2%, 82.1% and 16.7%. The frequencies of genotype epsilon 3/4 and epsilon 4, epsilon 3 allele in the centenarian group were significantly lower than those in controls(P< 0.01), whereas the frequencies of genotype epsilon 2/3 and epsilon 2 allele in the centenarian group were significantly higher than those in controls(P< 0.01). Longevity was noted to be positively correlated with epsilon 2 and negatively correlated with epsilon 4. CONCLUSION: This relationship reflects a genetic influence on differential survival and may point to pleiotropic age-dependent effects on longevity.

[Polymorphism of angiotensin converting enzyme gene and natural longevity in the Xinjiang Uygur people: an association study].

OBJECTIVE: To explore the distribution of I/D polymorphisms of angiotensin converting enzyme (ACE) gene and its relation to natural longevity in the Xinjiang Uygur people. METHODS: Polymerize chain reaction, single strand conformation polymorphism, and direct sequencing technique were used to test the I/D polymorphisms of ACE gene in 42 centenarians, 102 people aged 90-99, 70 people aged 65-70, 53 cases of natural death aged 65-70 were used as controls. RESULTS: The frequencies of ACE genotypes DD, DI, and II were 28.6%, 30.9%, and 40.5% respectively in the centenarian group, the frequency rates of D and I alleles were 0.44 and 0.56. The frequency rate of D/D genotype of the centenarian group was significantly higher than that of the group aged 65-70 (28.6% vs. 12.9%, chi2 = 4.25, P < 0.05), however, not significantly different from that of the group aged 90 (P > 0.05). The frequency rate of D allele of the group of centenarian was significantly higher than that of the group aged 65-70 (44.0% vs. 36.4%, chi2 = 4.47, P < 0.05). The frequency rates of genotype D/D and D alleles were significantly higher in the centenarian group than in the controls (both P < 0.01). CONCLUSION: ACE gene polymorphism is closely correlated with life span of individuals. Longevity is the result of pleiotropic age-dependent influence of multiple factors.

Beta2-adrenergic receptor gene polymorphism in Chinese Northern asthmatics.

OBJECTIVE: To investigate whether the polymorphisms of beta2-adrenergic receptor (beta2-AR) at position 16, 27, 164 are associated with asthma in Northern Chinese subjects. METHODS: Genomic DNA was collected from unrelated Northern Chinese population of Han ethnicity, including 125 unrelated asthmatic individuals and 96 healthy controls. Beta2-AR genes at position 16, 27, 164 were amplified by using restriction fragment length polymorphism (RFLP) and allelic specific polymerase chain reaction methods. All asthmatics had their serum IgE (total and specific) antibody or skin-prick test measured, bronchial reactivity to methacholine (Mch) and bronchial reversibility by beta2-agonist evaluated. RESULTS: (1) The frequency of Gly 16 homozygous was significantly higher in the asthmatic group than that in healthy controls (22.4% vs. 8.3%, P < 0.05), OR was 2.9 with 95% CI 1.26-6.78. The proportion of Gly 16 allele was also higher in asthmatics than that in control (0.46 vs. 0.36, P < 0.05); Gly16 homozygous was not independently associated with asthma pathogenesis (P = 0.21, OR 0.42 with 95% CI 0.11-1.61). (2) Of 51 night attack patients, 18 carrying Gly16 homozygosity, if compared with 10 of 74 nonnocturnal asthmatics carrying this genotype, there was significant difference between these two groups (35.3% vs. 13.5%, P < 0.01). (3) The average dose of PD20-Mch was significantly lower in patients carrying Gln 27 homozygous than those carrying homozygous Glu 27 and Gln/Glu 27 heterozygous (0.2 +/- 0.3, 1.6 +/- 0.8, and 2.1 +/- 3.0 micromol/L, P < 0.05). CONCLUSION: Beta2AR gene polymorphisms might confer susceptibility to asthma in Chinese Northern patients. Beta2-AR gene, coordinated with other candidate loci, plays a role in the development of asthma.