Abstract

Hypertension is a complex disease which is mainly influenced by genetic factors. Recently, genome-wide association study (GWAS) found three novel endothelial dysfunction-related sites: Vascular endothelial growth factor A (VEGFA) rs9472135, Faciogenital dysplasia 5 (FGD5) rs11128722, Zinc Finger C3HC-type Containing 1 (ZC3HC1) rs11556924. Endothelial dysfunction is one of the early events in pathophysiology of essential hypertension. To investigate the association of endothelial dysfunction-related genes with essential hypertension, we conducted a case-control study of 431 patients with hypertension and 345 controls. The polymorphisms were detected using Taqman Probe. The alleles and genotypes of ZC3HC1 rs11556924 and VEGFA rs9472135 were not statistically different between the two groups, while the allele of FGD5 rs11128722 was different [P = 0.045, OR = 1.265, 95% CI = (1.009-1.586)], especially in the male [P = 0.035, OR = 1.496, 95% CI = (1.037-2.158)]. Analyzing the different of genotype distribution of 3 SNPs in the two groups under different genetic models, the genotypes of FGD5 rs11128722 showed difference in male under dominant model [P = 0.049, OR = 1.610, 95% CI = (1.018-2.544)]. The polymorphism of FGD5 rs11128722 had a significant difference in Body Mass Index (BMI) among different genotypes; In the additive genetic model, BMI of GA genotype was higher than that of GG (P = 0.038); GA + AA was higher than GG in the dominant genetic model (P = 0.011). In our study, we found that the polymorphisms of VEGFA rs9472135 and ZC3HC1 rs11556924 may not significantly associated with the risk of essential hypertension, and FGD5 rs11128722 may increase the risk of it, especially in elderly men.

Highlights

  • Hypertension is one of the main diseases endangering human health

  • Participants with hypertension who met the following criteria were recruited: (1) systolic blood pressure (SBP) of at least 140 mmHg or diastolic blood pressure (DBP) of at least 90mmHg, or treatment with antihypertensive medication; (2) aged 60 years and above; (3) all patients were free from severe liver, kidney and acute or chronic infectious diseases, hyperthyroidism or hypothyroidism, systemic arteriopathy, various tumors and other cardio-cerebrovascular diseases and metabolic diseases

  • Age, height, weight, waist circumference, Body Mass Index (BMI), SBP, DBP were recorded in heath datasheet

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Summary

Introduction

Hypertension is one of the main diseases endangering human health. It is estimated that the number of untreated patients with hypertension will increase to 1.56 billion by 2025 in the world’s adult population [1, 2], more than 90% of which are primary (essential) hypertension. Hypertension is a complex multifactorial disease, which is influenced by genetic, environmental and demographic factors. The diagnosis of essential hypertension is made when no other cause for increased blood pressure is found. Previous study has shown that the influence of genetic factors on the change of blood pressure reaches 30% to 50%. Identifying the susceptibility gene loci of hypertension will help to understand the pathological and physiological characteristics of the disease [3]

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