摘要
目的研究雌激素受体α(estrogen receptor 1,ESR1)基因多态性对膝骨关节炎(knee osteoarthritis,KOA)患病风险的相关性。方法选择我院2017年12月至2019年4月收治的KOA患者87例作为研究组,其中男61例,女26例;年龄42~80岁,平均(62.15±8.02)岁。同期在我院健康体检者87例作为对照组,其中男60例,女27例;年龄40~79岁,平均(63.47±7.93)岁。采用聚合酶链式反应-限制性片段长度多态性法检测ESR1基因Xbal、PvuⅡ的单核苷酸多态性(single nucleotide polymorphism,SNP),比较两组ESR1基因Xbal、PvuⅡ位点的基因型和等位基因分布频率,采用非条件logistic回归分析ESR1基因多态性与膝骨关节炎之间的相关性。结果ESR1基因聚合酶链式反应(polymerase chain reaction,PCR)产物经限制性内切酶Xbal消化可形成AA、AG、GG基因型,PCR产物经限制性内切酶PvuⅡ消化可形成TT、TC、CC基因型。研究组ESR1基因Xbal位点的AA、AG、GG基因型频率较对照组差异有统计学意义(P<0.05),研究组ESR1基因PvuⅡ位点的TT、TC、CC基因型频率较对照组差异有统计学意义(P<0.05)。ESR1基因Xbal位点的AG基因型与KOA高风险发病率显著相关(P<0.05),ESR1基因PvuⅡ位点的TC基因型与KOA高风险发病率显著相关(P<0.05)。CA单体型在研究组中分布频率显著高于对照组(P<0.05)。单体型CA与KOA高风险发病率显著相关(P<0.05)。结论ESR1基因多态性与膝骨关节炎发病有一定联系,ESR1基因突变可能会增加膝骨关节炎患病风险。该研究结果有助于阐明膝骨关节炎分子遗传学机制,为在基因水平上预测个体发病风险提供一定参考依据。
Objective To investigate association of estrogen receptor 1(ESR1) gene polymorphism with the risk of knee osteoarthritis(KOA).Methods From December 2017 to April 2019,87 KOA patients(male/female:61/26) aged between 42 and 80 years old in our hospital were enrolled as study group,with an average age of(62.15±8.02).Meanwhile,another 87 health individuals(male/female:60/27) aged between 40 and 79 years old were set as control group,with an average age of(63.47±7.93).Single nucleotide polymorphism(SNP) of ESR1 gene Xbal and Pvu Ⅱ was detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The genotype and allele frequencies of Xbal and Pvu Ⅱ loci of ESR1 gene were compared between the two groups.The correlation between ESR1 gene polymorphism and knee osteoarthritis was determined by unconditional logistic regression.Results The genotypes of AA,AG and GG could be formed by Xbal restriction endonuclease of ESR1 gene,and TT,TC and CC could be formed by Pvu Ⅱ restriction endonuclease of ESR1 gene.The genotype frequencies of AA,AG and GG at Xbal locus of ESR1 gene in the study group were significantly different from those in the control group(P<0.05).The genotype frequencies of TT,TC and CC at Pvu Ⅱ locus of ESR1 gene in the study group were significantly different from those in the control group(P<0.05).The AG genotype at Xbal site of ESR1 gene was significantly correlated with the high-risk incidence of KOA(P<0.05),and the TC genotype at Pvu Ⅱ site of ESR1 gene was significantly correlated with the high-risk incidence of KOA(P<0.05).The frequency of CA haplotypes in the study group was significantly higher than that in the control group(P<0.05).There was a significant correlation between haplotype CA and the high-risk incidence of KOA(P<0.05).Conclusion ESR1 gene polymorphism has certain correlation with the onset of knee osteoarthritis.ESR1 gene mutation may increase the risk of knee osteoarthritis.The results of this study elucidate the molecular genetic mechanism of knee osteoarthritis and provide some reference for predicting individual risk at the genetic level.
作者
鲍亮
张兵
赵晨
刘琮
朱鹏
周涛
Bao Liang;Zhang Bing;Zhao Chen(Department of Orthopaedics,the Second Affiliated Hospital of Xi'an Medical College,Xi'an 710038,China)
出处
《实用骨科杂志》
2020年第10期888-891,共4页
Journal of Practical Orthopaedics
关键词
膝骨关节炎
雌激素受体Α
基因多态性
相关性
knee osteoarthritis
estrogen receptor 1
gene polymorphism
correlation
