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.
[1]黄艳艳,游运辉,左晓霞.高频超声和磁共振成像对膝关节骨关节炎的诊断价值对比[J].医学临床研究,2017,12(4):121-124.
[2]李志敏.超声检查在膝骨关节炎的应用探讨[J].实用骨科杂志,2015,21(3):270-272.
[3]袁颖超,廖秋菊.炎性细胞因子与膝骨关节炎诊断及治疗的最新研究进展[J].药学实践杂志,2018,9(7):255-258.
[4]申成凯,赵希春,孙代同,等.白细胞介素1B和1RN基因多态性与骨关节炎易感性的关系[J].中华关节外科杂志:电子版,2018,12(4):516-522.
[5]罗洁,许辉.TGF-β1-509C/T基因多态性与不同中医证型原发性膝骨关节炎的关系[J].江西医药,2016,11(2):134-136.
[6]刘娱,王瑶,裴晓方.中国成年女性ESR1基因多态性与骨密度关系的Meta分析[J].现代预防医学,2017,5(8):12-19.
[7]中华医学会骨科学分会关节外科学组.骨关节炎诊疗指南(2018年版)[J].中华骨科杂志,2018,38(12):705-715.
[8]Bhagat AK,Srivastava RN,Sharma AC,et al.Association IL1Bgene polymorphisms (RS1143634 AND RS1143627) with knee osteoarthritis (KOA) risk in the north Indian population[J].Osteoarthr Cartilage,2019,27(9):295-296.
[9]Wang Guanjie,Zhang Lei,Xie Lijun,et al.Effects of herbal steam-wash therapy on IL-1β and TGF-β1 concentrations in the knee joint fluids of knee osteoarthritis[J].Chin J Clinical Anatomy,2017,2(8):2312-2315.
[10]Horta KC,Mara-ón-Vásquez GA,Matsumoto MAN,et al.Association between polymorphisms in genes encoding estrogen receptors (ESR1 and ESR2) and excreted bisphenol A levels after orthodontic bracket bonding:a preliminary study[J].Prog Orthod,2018,19(1):19-22.
[11]Choudhry S,Baskin LS,Lammer EJ,et al.Genetic polymorphisms in ESR1 and ESR2 genes,and risk of hypospadias in a multiethnic study population[J].J Urol,2015,193(5):1625-1631.
[12]付映旭,胥伯勇,曹力,等.雌激素受体α基因Pvu Ⅱ位点多态性与女性膝骨关节炎相关性的Meta分析[J].中国矫形外科杂志,2016,375(13):1183-1187.
[13]周予婧,邹莹洁,谭洁,等.雌激素受体α基因XbaⅠ、Pvu Ⅱ位点多态性与女性膝骨关节炎易感性关系的Meta分析[J].湖南中医药大学学报,2018,38(11):61-65.
[14]Tucker HL,Parsons CL,Ellis S,et al.Tamoxifen impairs prepubertal mammary development and alters expression of estrogen receptor α (ESR1) and progesterone receptors (PGR)[J].Domest Anim Endocrinol,2016,54(11):95-105.
[15]Gomes-Rochette NF,Souza LS,Tommasi BO,et al.Association of Pvu Ⅱ and XbaI polymorphisms on estrogen receptor alpha (ESR1) gene to changes into serum lipid profile of post-menopausal women:Effects of aging,body mass index and breast cancer incidence[J].PloS One,2017,12(2):266-271.