A promoter polymorphism in APJ gene is significantly associated with blood pressure changes and hypertension risk in Chinese women

Abstract

The aim of this study was to interrogate the gender-specific association of 5 well-defined polymorphisms in apelin/APJ system with both blood pressure changes and hypertension risk in a northeastern Chinese population. This is a population-based case-control study, including 650 hypertensive patients and 645 normotensive controls. Data were analyzed by STATA and Haplo.Stats. The genotype distributions of 5 study polymorphisms were in Hardy-Weinberg equilibrium in both genders. The rs7119375 and rs10501367 were completely linked. The genotypes (P = 0.001) and alleles (P < 0.001) of rs7119375 differed significantly between patients and controls in women. Carriers of rs7119375-AA genotype had significant higher systolic blood pressure (SBP) than carriers of rs7119375-GG genotype in both patients and controls of female gender (P < 0.01). Moreover, carriers of rs7119375-A allele were 1.80 times more likely to develop hypertension relative to carriers of rs7119375-GG genotype after adjusting for age, body mass index and glucose (odds ratio: 1.80; 95% confidence interval: 1.03–3.16; P = 0.040). Further allele combination analysis supported the leading contribution of rs7119375 to hypertension risk. Our findings demonstrated that the mutation of promoter polymorphism rs7119375 in APJ gene was significantly associated with elevated SBP and increased hypertension risk in Chinese women.

Association of apelin and apelin receptor with the risk of coronary artery disease: a meta-analysis of observational studies

“…The mutant allele of this polymorphism was found to confer a marginally increased risk for CAD in overall analysis that was not subject to the disturbance of between-study heterogeneity and publication bias. It is universally believed that CAD is a multifactorial polygenic disease [ 37 , 38 ], and the increased risk conferred by a single allele in APLNR gene is extremely small [ 25 ]. Although current knowledge upon the genetic underpinnings of CAD is still far from being complete, it is essential to narrow down genetic variants that could be translated to routine clinical practice.…”

G-T haplotype established by rs3785889-rs16941382 in GOSR2 gene is associated with coronary artery disease in Chinese Han population

“…Polymerase chain reaction (PCR) amplification was performed using 2.5 μl of TaqMan Universal Master Mix, No AmpErase UNG (2×) (Applied Biosystems) in a 5 μl final reaction volume, along with 2 ng DNA, 2.375 μl ultrapure water, 0.079 μl Tris-EDTA (TE) buffer (1×), 0.046 μl TaqMan SNP Genotyping Assay Mix (40×) containing a 331.2 nmol/l final concentration of primers and a 73.6 nmol/l final concentration of the probes. The thermal cycling conditions were as follows: 50°C for 2 min; 95°C for 10 min; 50 cycles of 95°C for 15 s; and 60°C for 1 min [ 24 , 25 ]. The plates were read on the sequence detection system 7900 instrument with the end-point analysis mode of the sequence detection system version 1.6.3 software package (Applied Biosystems).…”

The association between apelin polymorphisms and hypertension in China: A meta-analysis

“…These single nucleotide polymorphism (SNP), loci include rs3115757, rs56204867, rs7119375, rs3761581, rs909656, rs5975126, rs10501367, rs11544374, rs2235306, and rs2235307 of apelin or APJ. 4,10–19 And the results were debatable among different regions and genders.…”

“…16 While among the Northern Chinese population (Heilongjiang), there was no significantly different hypertension risk between different genotypes ( p =0.809 for male, p =0.684 for female). 13 Although Li et al included rs3761581 in their study, they did not discuss its association with hypertension since the data did not satisfy the Hardy-Weinberg Equilibrium (HWE). 20…”

“…16 In the Northeastern Chinese population (Heilongjiang), one study demonstrated the significant association between rs56204867 and hypertension in both females ( p =0.001) and males ( p =0.001), 20 which was absent in another study ( p =0.922 for males and p =0.251 for females). 13…”