Mi Houlin, Wang Mingzhi, Chang Yongmei
Department of Orthopedics, South China Hospital Affiliated to Shenzhen University, 1# Fuxin Road, Longgang District, Shenzhen City, Guangdong Province, 518111, China.
Department of Thoracic Surgery, Guangdong Second Provincial General Hospital, 466# Xingang Middle Road, Haizhu District, Guangzhou City, Guangdong Province, 510006, China.
Heliyon. 2024 Mar 19;10(7):e28035. doi: 10.1016/j.heliyon.2024.e28035. eCollection 2024 Apr 15.
This study was aimed to explore the correlation between polymorphisms and susceptibility to knee osteoarthritis (KOA).
The relationship of five single nucleotide polymorphisms (SNPs) in the gene with the susceptibility of KOA was analyzed through multinomial logistic regression analysis in this a case-control study. Genotyping was performed on 228 KOA patients and 252 unaffected individuals from South China based on the TaqMan method. The MDR software (version 3.0.2) was utilized for the analysis of SNP interactions.
Out of the five SNPs examined, the T > G change in the gene at the rs1061026 locus increased the risk of KOA, while rs1139130 A > G and rs1263802 C > T variants were found to be linked with a reduced risk of developing KOA with statistical significance. The rs1061027 A > C and rs1263801 C > G variants did not show significant association (p>0.05). The rs1061026 TG/GG genotype showed a significant correlation with an increased risk of KOA in the following subgroups: the males, individuals with a BMI ranging from 24 to 28, smokers, those who were not engaged in physical exercise (PE), patients who had experienced KOA symptoms for eight years or longer, and those without a family history of the disease or reported swelling. On the other hand, the rs1139130 AG/GG genotype demonstrated a protective effect against KOA among the females, individuals with a BMI greater than or equal to 24, a unilateral KOA, or a KOA duration of 8 years or less, non-smokers, non-alcohol drinkers, those who were not engaged in PE, and those who had no injury or family history, or no experience of knee swelling. Additionally, it was observed that the rs1263802 CT/TT genotypes showed a protective effect among patients without a history of injury. Furthermore, individuals with the haplotypes GAT, GGC, TAT, and TGC were found to have a significantly lower susceptibility to KOA compared to the reference haplotype TAC.
The gene variant rs1061026 could increase the risk of KOA, whereas the variants of rs1139130 as well as rs1263802 might exert a protective effect against KOA. These variants could potentially function as susceptibility markers for KOA among the population from South China.
本研究旨在探讨基因多态性与膝关节骨关节炎(KOA)易感性之间的相关性。
在这项病例对照研究中,通过多项逻辑回归分析,分析了该基因中五个单核苷酸多态性(SNP)与KOA易感性的关系。采用TaqMan方法对来自中国南方的228例KOA患者和252例未受影响个体进行基因分型。利用MDR软件(版本3.0.2)分析SNP相互作用。
在所检测的五个SNP中,rs1061026位点该基因的T>G变化增加了KOA的风险,而rs1139130的A>G和rs1263802的C>T变异与KOA发生风险降低相关,具有统计学意义。rs1061027的A>C和rs1263801的C>G变异未显示出显著相关性(p>0.05)。rs1061026的TG/GG基因型在以下亚组中与KOA风险增加显著相关:男性、BMI在24至28之间的个体、吸烟者、未进行体育锻炼(PE)的个体、有KOA症状8年或更长时间的患者以及无该病家族史或未报告肿胀的患者。另一方面,rs1139130的AG/GG基因型在女性、BMI大于或等于24的个体、单侧KOA或KOA病程8年或更短的个体、非吸烟者、不饮酒者、未进行PE的个体以及无损伤或家族史或无膝关节肿胀经历者中对KOA具有保护作用。此外,观察到rs1263802的CT/TT基因型在无损伤史的患者中具有保护作用。此外,与参考单倍型TAC相比,单倍型GAT、GGC、TAT和TGC的个体对KOA的易感性显著降低。
基因变异rs1061026可能增加KOA的风险,而rs1139130以及rs1263802的变异可能对KOA具有保护作用。这些变异可能在中国南方人群中作为KOA的易感性标志物发挥作用。