Abstract

Aldehyde dehydrogenase (ALDH) is a key enzyme for the catalytic oxidation of acetaldehyde to acetic acid. Genetic polymorphisms of ALDH2 have been associated with a wide range of diseases and cancers. However, little information is found about the association between ALDH2 polymorphisms and lumbar disc herniation (LDH) in Chinese Han population. We investigated the association between single nucleotide polymorphisms (SNPs) in ALDH2 and LDH risk in a case–control study that included 380 LDH cases and 692 healthy controls. Eight SNPs were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for gender and age. In the allele model analysis, we found the frequency of the “A” allele of rs671 was significantly higher in LDH cases than in controls (OR = 1.414, 95%CI: 1.109–1.803, P = 0.005). In the genetic model analysis, we found the minor allele “A” of rs671 was associated with increased risk of LDH under log-additive model (OR = 1.42, 95%CI: 1.11–1.82, P = 0.0062); and the minor allele “C” of rs7296651 was associated with decreased risk of LDH under over-dominant model (OR = 0.72, 95%CI: 0.53–0.97, P = 0.031). Additionally, the haplotype “GGCTCACG” constructed by rs886205, rs2238152, rs4648328, rs441, rs4646778, rs671, rs11066028, and rs7296651 was associated with increased risk of LDH (OR = 1.45; 95% CI = 1.11–1.90; P = 0.0071). Our data shed new light on the association between genetic polymorphisms of ALDH2 and LDH susceptibility in a Chinese Han population.

Highlights

  • Lumbar disc herniation (LDH) is one of the most common diseases, which mainly caused by the varying degrees of degenerative changes of lumbar intervertebral disc[1]

  • Two susceptibility single nucleotide polymorphism (SNPs) were found to be associated with lumbar disc herniation (LDH) risk after the adjustment: the minor allele “A” of rs[671] was associated with increased risk of LDH under log-additive model (OR = 1.42, 95%confidence intervals (CIs): 1.11–1.82, P = 0.0062); the minor allele “C” of rs7296651 was associated with decreased risk of LDH under over-dominant model (OR = 0.72, 95%CI: 0.53–0.97, P = 0.031)

  • The goal of this study was to assess the association between genetic polymorphisms of ALDH2 and risk of LDH

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Summary

Introduction

Lumbar disc herniation (LDH) is one of the most common diseases, which mainly caused by the varying degrees of degenerative changes of lumbar intervertebral disc[1]. Genome wide association studies (GWAS) have identified several types of susceptibility genes associated with the degeneration of lumbar intervertebral disc, including structural related genes (ACAN, COL1, COL9, FN, HAPLN1, THBS), catabolic related genes (MMP and TIMP), inflammatory related genes (IL1, IL6, COX2) and so on[6]. This is still not enough to explain the hereditary susceptibility of LDH. In this case-control study, we genotyped eight single nucleotide polymorphism (SNPs) in ALDH2: rs886205, rs2238152, rs4648328, rs[441], rs4646778, rs[671], rs11066028, and rs7296651, and performed a comprehensive association analysis to identify SNPs associated with LDH risk in a Chinese Han population

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