Tawonsawatruk Tulyapruek, Trachoo Objoon, Channoom Thanaphot, Sura Thanyachai, Eu-ahsunthornwattana Jakris, Woratanarat Patarawan, Wajanavisit Wiwat
Department of Orthopedics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 270 Rama 6 Road, Ratchatewee, Bangkok 10400, Thailand.
J Med Assoc Thai. 2009 Dec;92 Suppl 6:S45-50.
Estrogen receptor-alpha single-nucleotide polymorphism (ER-alpha SNP) has previously shown its susceptibility to knee osteoarthritis (OA) but this association cannot be applied to ethnic groups with different genetic backgrounds.
To characterize the genetic association between ER-alpha SNP and knee OA in the Thai.
A case-control study was conducted at Ramathibodi Hospital from August 2007 to May 2008. Altogether, 104 cases affected by knee OA and 104 controls were included in this study. SNP rs2228480 (codon 594 G!A) on the ER-alpha gene was genotyped by a PCR-RFLP-based technique. Genotype frequencies were analyzed by logistic regression.
ER-alpha SNP was normally distributed through the Hardy-Weinberg Equilibrium (HWE). The risk of knee OA was genetically associated to AG an AA genotypes compàred with homozygous wild-type GG (OR: 1.02, 95% CI: 0.60-1.80 for AG; OR: 1.27, 95% CI: 0.30-4.90 for AA).
Our study showed that these genetic alterations might be associated with knee osteoarthritis in the Thai population. Further investigation on other informative SNPs on the ER-alpha gene should be performed to create a reliable haplotype that might provide a stronger link between genetic profiles and clinical picture.
雌激素受体α单核苷酸多态性（ER-α SNP）先前已显示出其与膝关节骨关节炎（OA）的易感性，但这种关联不能应用于具有不同遗传背景的种族群体。
明确泰国人群中ER-α SNP与膝关节OA之间的遗传关联。
2007年8月至2008年5月在拉玛蒂博迪医院进行了一项病例对照研究。本研究共纳入104例膝关节OA患者和104例对照。采用基于PCR-RFLP的技术对ER-α基因上的SNP rs2228480（密码子594 G!A）进行基因分型。通过逻辑回归分析基因型频率。
ER-α SNP通过哈迪-温伯格平衡（HWE）呈正态分布。与纯合野生型GG相比，膝关节OA的风险在遗传上与AG和AA基因型相关（AG：OR = 1.02，95%CI：0.60 - 1.80；AA：OR = 1.27，95%CI：0.30 - 4.90）。
我们的研究表明，这些基因改变可能与泰国人群的膝关节骨关节炎有关。应进一步研究ER-α基因上其他有信息价值的SNP，以创建一个可靠的单倍型，这可能在基因谱与临床情况之间提供更强的联系。
