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ALDH2 基因多态性与中国汉族人群腰椎间盘突出症的相关性。

Genetic polymorphisms of ALDH2 are associated with lumbar disc herniation in a Chinese Han population.

机构信息

Department of Spinal Surgery, Xi'an Jiaotong University Hospital Medical College Red Cross Hospital, Xi'an, Shaanxi, 710054, China.

Department of Rehabilitation Medicine, Affiliated Hospital of Shaanxi University of Chinese Medicine, Xianyang, Shaanxi, 712000, China.

出版信息

Sci Rep. 2018 Aug 30;8(1):13079. doi: 10.1038/s41598-018-31491-6.

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.

摘要

醛脱氢酶 (ALDH) 是催化乙醛氧化为乙酸的关键酶。ALDH2 的遗传多态性与多种疾病和癌症有关。然而,在中国汉族人群中,关于 ALDH2 多态性与腰椎间盘突出症 (LDH) 之间的关联的信息很少。我们在一项病例对照研究中调查了 ALDH2 单核苷酸多态性 (SNP) 与 LDH 风险之间的关联,该研究包括 380 例 LDH 病例和 692 名健康对照。使用 Sequenom MassARRAY 平台选择并分型 8 个 SNP。在调整性别和年龄后,使用无条件 logistic 回归计算比值比 (OR) 和 95%置信区间 (CI)。在等位基因模型分析中,我们发现 LDH 病例中 rs671 的“A”等位基因频率明显高于对照组 (OR=1.414, 95%CI: 1.109-1.803, P=0.005)。在遗传模型分析中,我们发现 rs671 的次要等位基因“A”在加性模型下与 LDH 风险增加相关 (OR=1.42, 95%CI: 1.11-1.82, P=0.0062);而 rs7296651 的次要等位基因“C”在超显性模型下与 LDH 风险降低相关 (OR=0.72, 95%CI: 0.53-0.97, P=0.031)。此外,由 rs886205、rs2238152、rs4648328、rs441、rs4646778、rs671、rs11066028 和 rs7296651 构建的 haplotype“GGCTCACG”与 LDH 风险增加相关 (OR=1.45; 95%CI=1.11-1.90; P=0.0071)。我们的数据为中国汉族人群中 ALDH2 遗传多态性与 LDH 易感性之间的关联提供了新的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/78c4/6117275/2c7b6442da98/41598_2018_31491_Fig1_HTML.jpg

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