Abstract:This haplotype-based case-control study investigated whether the aldosterone synthase gene (CYP11B2) might be implicated in the pathogenesis of essential hypertension in Yi (226 individuals) and Hani (296 individuals) minorities of China. Four tag SNPs (rs4536, rs4545, rs3097, and rs3802230) and the K173R polymorphism were genotyped using the PCR-RFLP method. In the Hani minority, rs4536 was significantly associated with hypertension, after Bonferroni correction. H9 AGGC constructed by tag SNPs was significant… Show more
“…The combined P = 0.001, OR = 1.20, 95% CI = 1.08–1.34, I 2 = 0.0% ( P = 0.39), which means no heterogeneity existed between two studies, and the C allele of rs3802230 might be a risk factor for essential hypertension in the Han Chinese population. Chen et al also analyzed these SNPs in Yi and Hani Minorities of China, and found rs4536 was significantly associated with hypertension in the Hani minority, however, no association was found in the Yi minority [32].…”
BackgroundRenin-angiotensin-aldosterone system (RAAS) is the most important endocrine blood pressure control mechanism in our body, genes encoding components of this system have been strong candidates for the investigation of the genetic basis of hypertension. However, previous studies mainly focused on limited polymorphisms, thus we carried out a case-control study in the Han Chinese population to systemically investigate the association between polymorphisms in the RAAS genes and essential hypertension.Methods905 essential hypertensive cases and 905 normotensive controls were recruited based on stringent inclusion and exclusion criteria. All 41 tagSNPs within RAAS genes were retrieved from HapMap, and the genotyping was performed using the GenomeLab SNPstream Genotyping System. Logistic regression analysis, Multifactor dimensionality reduction (MDR), stratified analysis and crossover analysis were used to identify and characterize interactions among the SNPs and the non-genetic factors.ResultsSerum levels of total cholesterol (TC) and triglyceride (TG), and body mass index (BMI) were significantly higher in the hypertensive group than in the control group. Of 41 SNPs genotyped, rs3789678 and rs2493132 within AGT, rs4305 within ACE, rs275645 within AGTR1, rs3802230 and rs10086846 within CYP11B2 were shown to associate with hypertension. The MDR analysis demonstrated that the interaction between BMI and rs4305 increased the susceptibility to hypertension. Crossover analysis and stratified analysis further indicated that BMI has a major effect, and rs4305 has a minor effect.ConclusionThese novel findings indicated that together with non-genetic factors, these genetic variants in the RAAS may play an important role in determining an individual’s susceptibility to hypertension in the Han Chinese.
“…The combined P = 0.001, OR = 1.20, 95% CI = 1.08–1.34, I 2 = 0.0% ( P = 0.39), which means no heterogeneity existed between two studies, and the C allele of rs3802230 might be a risk factor for essential hypertension in the Han Chinese population. Chen et al also analyzed these SNPs in Yi and Hani Minorities of China, and found rs4536 was significantly associated with hypertension in the Hani minority, however, no association was found in the Yi minority [32].…”
BackgroundRenin-angiotensin-aldosterone system (RAAS) is the most important endocrine blood pressure control mechanism in our body, genes encoding components of this system have been strong candidates for the investigation of the genetic basis of hypertension. However, previous studies mainly focused on limited polymorphisms, thus we carried out a case-control study in the Han Chinese population to systemically investigate the association between polymorphisms in the RAAS genes and essential hypertension.Methods905 essential hypertensive cases and 905 normotensive controls were recruited based on stringent inclusion and exclusion criteria. All 41 tagSNPs within RAAS genes were retrieved from HapMap, and the genotyping was performed using the GenomeLab SNPstream Genotyping System. Logistic regression analysis, Multifactor dimensionality reduction (MDR), stratified analysis and crossover analysis were used to identify and characterize interactions among the SNPs and the non-genetic factors.ResultsSerum levels of total cholesterol (TC) and triglyceride (TG), and body mass index (BMI) were significantly higher in the hypertensive group than in the control group. Of 41 SNPs genotyped, rs3789678 and rs2493132 within AGT, rs4305 within ACE, rs275645 within AGTR1, rs3802230 and rs10086846 within CYP11B2 were shown to associate with hypertension. The MDR analysis demonstrated that the interaction between BMI and rs4305 increased the susceptibility to hypertension. Crossover analysis and stratified analysis further indicated that BMI has a major effect, and rs4305 has a minor effect.ConclusionThese novel findings indicated that together with non-genetic factors, these genetic variants in the RAAS may play an important role in determining an individual’s susceptibility to hypertension in the Han Chinese.
“…Moreover, they tend to not migrate or not intermarry with other minorities. 8,9 Thus, the genetic backgrounds of samples in this study were very similar and the BP phenotypes were not affected by drugs. The above features raise the power of our evaluation of the contributions of genetic factors to EH and make our study findings much more objective.…”
Section: Discussionmentioning
confidence: 72%
“…The above conditions minimize the influence of confounding environmental factors and reduce genetic diversity in founder populations. 8,9 A genetic association study based on such an isolated population could increase the chances of identifying genetic factors contributing to EH. We recruited hypertensive and normal individuals from the Yi minority population in this study, and attempted to explore the association of the prolylcarboxypeptidase (PRCP) gene with EH.…”
Objective: Prolylcarboxypeptidase (PRCP) is a negative regulator of the pressor actions of the renin–angiotensin–aldosterone system. It is also involved in the kallikrein–kinin system. This gene has an important role in blood pressure (BP) regulation. Methods: A case–control study was performed for 615 Yi participants (303 cases and 312 controls) from a remote mountainous area in Yunnan Province of China. For the PRCP gene, 11 tag single-nucleotide polymorphisms were genotyped using the polymerase chain reaction-restriction fragment length polymorphism method. Results: The PRCP gene rs12290550 was associated with the occurrence of essential hypertension (EH) and BP traits. Logistic regression analysis indicated that the rs12290550 T allele was significantly linked to the risk of EH (odds ratio (OR) = 1.85, 95% confidence interval (CI) 1.44–2.39, p = 0.2 × 10−5). Under Bonferroni correction, the H7 TAGCACTAACA haplotype containing the risk allele rs12290550 T increased the risk of EH (OR = 4.53, 95% CI 2.29–8.93, p = 0.2×10−5). Conclusions: The findings of this study demonstrate the strong association of the PRCP gene with EH. rs12290550 may be a useful genetic predictor of EH in the Yi minority.
“…Thus, Hani ethnic minority has the low frequency of migration and intermarriage with other minorities. 7,8 This reduced genetic diversity in founder populations could increase the genetic study power to explore the susceptible gene markers for EH.…”
Objective: Prolylcarboxypeptidase (PRCP) is both involved in the Kallikrein-Kinin system (KKS) and renin-angiotensin-aldosterone system (RAAS). This study aimed to determine the genetic impact of PRCP gene polymorphisms on essential hypertension (EH) in an isolated population from a remote region of China. Methods: A haplotype-based study was investigated in 346 EH patients and 346 normal subjects and all samples were Hani minority residents in Southwest China. A total of 11 tag single nucleotide polymorphisms (SNPs) in PRCP gene were tested by polymerase chain reaction-restriction fragment length polymorphism method. Results: Single site analysis found that PRCP gene 3′UTR SNP rs3750931 was associated with EH. The minor allele G of rs3750931 was more prevalent in the EH patients compared to control subjects after Bonferroni correction ( p < 0.05). Moreover, the rs3750931 G allele carriers showed higher average blood pressure (BP) level among the subjects. The H2 (GAGCACTAACA) haplotype without rs3750931 G allele showed the protective effect for EH (OR = 0.68, 95 CI 0.54–0.85, p = 0.001). Conclusion: The present study indicated PRCP gene rs3750931 was associated with the risk of EH. This SNP G allele could be considered as one of risk markers for EH in Hani population.
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