ESR1基因多态性与膝骨关节炎患病风险的相关性研究

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Abstract 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.

Key words： knee osteoarthritis estrogen receptor 1 gene polymorphism correlation

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