Abstract

The association between polymorphisms of α-adducin (ADD1) gene and essential hypertension is still unclear. Thus, we carried out a case-control study and an interaction analysis to test whether ADD1 is a common candidate gene for hypertension in the Chinese population. Blood samples and information including body mass index (BMI), smoking habit, and alcohol abuse were collected. Meanwhile, total cholesterol, high density lipoprotein, triglyceride were measured by automatic biochemistry analyzer. All 6 tag single nucleotide polymorphisms (tagSNPs) within ADD1 gene were genotyped by SNPstream genotyping system. Multifactor dimensionality reduction (MDR) was used to identify the interactions among the SNPs and the non-genetic factors. Results showed that plasma triglyceride, total cholesterol, and BMI were significantly higher in the hypertensive group than in the control group. Result from genotyping indicated that rs4963 was significantly associated with essential hypertension. After stratification by gender, rs4963 was associated with essential hypertension only in males. MDR analysis indicated that interaction among BMI, rs4963, and rs16843452 were involved in susceptibility of hypertension. The present study indicated that rs4963 within ADD1 gene was associated with essential hypertension in Chinese population, which might be related to altered exonic splicing and disrupted gene regulation.

Highlights

  • Adducin (ADD) is a heterodimeric cytoskeleton protein consisting of an αα-subunit with either a ββ- or a γγ-subunit [1], and they are encoded by three different genes ADD1, ADD2, and ADD3, respectively. e αα-subunit is known to increase renal sodium reabsorption and may be involved in the pathophysiology of essential hypertension [2]. erefore, it is considered as a major candidate gene for essential hypertension

  • E association between polymorphisms of αα-adducin (ADD1) gene and essential hypertension is still unclear. us, we carried out a case-control study and an interaction analysis to test whether ADD1 is a common candidate gene for hypertension in the Chinese population

  • Multifactor dimensionality reduction (MDR) analysis indicated that interaction among body mass index (BMI), rs4963, and rs16843452 were involved in susceptibility of hypertension. e present study indicated that rs4963 within ADD1 gene was associated with essential hypertension in Chinese population, which might be related to altered exonic splicing and disrupted gene regulation

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Summary

Introduction

Adducin (ADD) is a heterodimeric cytoskeleton protein consisting of an αα-subunit with either a ββ- or a γγ-subunit [1], and they are encoded by three different genes ADD1, ADD2, and ADD3, respectively. e αα-subunit is known to increase renal sodium reabsorption and may be involved in the pathophysiology of essential hypertension [2]. erefore, it is considered as a major candidate gene for essential hypertension. A number of studies have investigated the association of αα-adducin gene (ADD1) polymorphisms with essential hypertension in the past two decades. To convince the association of this polymorphism with essential hypertension, several meta-analyses were recently published [6,7,8,9,10]. Most of these analyses failed to provide evidence for the genetic association of ADD1 G460W polymorphism with essential hypertension in global population; but it is suggested that the W carrier might increase the risk of essential hypertension in Han Chinese population [7]. BioMed Research International and an interaction analysis to verify whether ADD1 gene is associated with hypertension in the Chinese population

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