RAB40C 基因多态性 rs62030917 和 rs2269556 与中国汉族人群腰椎间盘突出症的发病风险增加相关。

RAB40C gene polymorphisms rs62030917 and rs2269556 are associated with an increased risk of lumbar disc herniation development in the Chinese Han population.

机构信息

Department of Spine Surgery, Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, China.

Department of Trauma Surgery, Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, China.

出版信息

J Gene Med. 2021 Apr;23(4):e3252. doi: 10.1002/jgm.3252. Epub 2021 Mar 17.

DOI:10.1002/jgm.3252

PMID:32656896

Abstract

BACKGROUND

Lumbar disc herniation (LDH) places a serious burden on the daily lives and socioeconomics of people. Although the pathogenesis of LDH is complex, genetic factors such as single nucleotide polymorphisms (SNPs) may affect the risk of developing LDH. In the present study, we aimed to elucidate the effect of RAB40C SNPs on the risk of LDH in the Chinese Han population.

METHODS

We investigated 508 LDH cases and 508 healthy controls for this case-control study. Three tag SNPs in RAB40C were selected and genotyped using the Agena MassARRAY platform (Agena Bioscience, San Diego, CA, USA). After adjusting for age and gender, odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression.

RESULTS

In the allele model, we found rs62030917 and rs2269556 in RAB40C with a minor G allele significantly increased the risk of LDH (rs62030917: OR = 1.23, 95% CI = 1.00-1.50, p = 0.046; rs2269556: OR = 1.21, 95% CI = 1.02-1.45, p = 0.033). In genetic model analysis, rs2269556 was associated with an increased risk of LDH under both codominant (OR = 1.49, 95% CI = 1.03-2.15, p = 0.035) and log-additive models (OR = 1.21, 95% CI = 1.01-1.45, p = 0.035). rs62030917 of RAB40C was associated with an increased risk of LDH under codominant, recessive and log-additive models (p < 0.05) only among individuals younger than 49 years after stratification by age.

CONCLUSIONS

For the first time, our results suggest that rs62030917 and rs2269556 in the RAB40C gene influence genetic susceptibility to LDH.

摘要

背景

腰椎间盘突出症（LDH）给人们的日常生活和社会经济带来了严重负担。尽管 LDH 的发病机制很复杂，但单核苷酸多态性（SNPs）等遗传因素可能会影响 LDH 的发病风险。在本研究中，我们旨在阐明 RAB40C SNPs 对汉族人群 LDH 发病风险的影响。

方法

本病例对照研究共纳入 508 例 LDH 患者和 508 例健康对照。使用 Agena MassARRAY 平台（Agena Bioscience，圣地亚哥，CA，美国）对 RAB40C 中的 3 个标签 SNP 进行检测和基因分型。在调整年龄和性别后，使用非条件 logistic 回归计算比值比（ORs）和 95%置信区间（CIs）。

结果

在等位基因模型中，我们发现 RAB40C 中的 rs62030917 和 rs2269556 中的次要 G 等位基因显著增加了 LDH 的发病风险（rs62030917：OR=1.23，95%CI=1.00-1.50，p=0.046；rs2269556：OR=1.21，95%CI=1.02-1.45，p=0.033）。在遗传模型分析中，rs2269556 无论是在显性还是加性模型下，均与 LDH 发病风险增加相关（显性模型：OR=1.49，95%CI=1.03-2.15，p=0.035；加性模型：OR=1.21，95%CI=1.01-1.45，p=0.035）。rs62030917 仅在年龄分层后 49 岁以下的个体中，在显性、隐性和加性模型下与 LDH 发病风险增加相关（p<0.05）。