SMAD3基因多态性与体重指数的相互作用和骨关节炎易感性之间的关联。

Association between the interaction of SMAD3 polymorphisms with body mass index and osteoarthritis susceptibility.

作者信息

Kang Baolin, Zhao Feng, Zhang Xin, Deng Xiao, He Xijing

机构信息

Department of Orthopaedics, Sengong Hospital of Shaanxi Xi'an 710300, Shaanxi, China.

Department of Orthopaedics, The Second Affiliated Hospital, School of Medicine, Xi'an Jiaotong University 157# West 5 Road, Xi'an 710004, Shaanxi, China.

出版信息

Int J Clin Exp Pathol. 2015 Jun 1;8(6):7364-70. eCollection 2015.

PMID:26261637

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4525971/

Abstract

PURPOSE

This study aimed to investigate the relationship between the interaction of SMAD3 polymorphisms (rs12102171 and rs2289263) with body mass index (BMI) and osteoarthritis (OA) susceptibility.

METHODS

This study involved 112 OA patients and 120 healthy people. The controls were frequency-matched with the cases by age and sex. Hardy-Weinberg equilibrium (HWE) was tested by χ(2) test in the control group. The rs12102171 and rs2289263 polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The relative risk of OA was represented by odds ratio (OR) with 95% confidence interval (CI) calculated by chi-squared test. Gene-environment interaction was analyzed by crossover analysis.

RESULTS

The TT genotype and T allele of SMAD3 rs12102171 polymorphism were more frequent in case than control groups (P=0.04 in both of two polymorphisms), which increased the risk of OA (OR=3.39, 95% CI=1.03-11.11 and OR=1.64, 95% CI=1.03-2.59). GG genotype and G allele were also the risk factors for OA (OR=3.22, 95% CI=1.09-9.51 and OR=1.57, 95% CI=1.02-2.42). The BMI had interactions with genotype CC and CT+TT of rs12102171 and TT and TG+GG of rs2289263 (rs12102171: OR=2.15, P=0.02 and OR=3.99, P=1.00×10(-3); rs2289263: OR=2.73, P=4.00×10(-3) and OR=4.67, P=0).

CONCLUSIONS

CC and CT+TT and TT and TG+GG genotypes of SMAD3 rs12102171 and rs2289263 polymorphisms together with BMI may be susceptible factors to OA, and interactions there between can possibly confer risk to OA.

摘要

目的

本研究旨在探讨SMAD3基因多态性（rs12102171和rs2289263）与体重指数（BMI）及骨关节炎（OA）易感性之间的关系。

方法

本研究纳入112例OA患者和120例健康人。对照组按年龄和性别与病例组进行频率匹配。在对照组中采用χ²检验进行哈迪-温伯格平衡（HWE）检验。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对rs12102171和rs2289263基因多态性进行基因分型。OA的相对风险用比值比（OR）表示，通过卡方检验计算95%置信区间（CI）。采用交叉分析方法分析基因-环境相互作用。

结果

SMAD3 rs12102171基因多态性的TT基因型和T等位基因在病例组中的频率高于对照组（两种多态性的P值均为0.04），这增加了OA的发病风险（OR=3.39，95%CI=1.03-11.11；OR=1.64，95%CI=1.03-2.59）。GG基因型和G等位基因也是OA的危险因素（OR=3.22，95%CI=1.09-9.51；OR=1.57，95%CI=1.02-2.42）。BMI与rs12102171的CC基因型和CT+TT基因型以及rs2289263的TT基因型和TG+GG基因型存在相互作用（rs12102171：OR=2.15，P=0.02；OR=3.99，P=1.00×10⁻³；rs2289263：OR=2.73，P=4.00×10⁻³；OR=4.67，P=0）。