Kim Jin Ju, Choi Young Min, Hong Min A, Chae Soo Jin, Hwang Kyuri, Yoon Sang Ho, Ku Seung Yup, Suh Chang Suk, Kim Seok Hyun
Department of Obstetrics and Gynecology, Healthcare System Gangnam Center, Seoul National University Hospital, Seoul, South Korea.
Department of Obstetrics and Gynecology, The Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, 28 Yungun-dong, Chongno-ku, Seoul, 110-744, South Korea.
J Assist Reprod Genet. 2017 Aug;34(8):1087-1093. doi: 10.1007/s10815-017-0953-z. Epub 2017 May 25.
The purpose of this study was to investigate whether the follicle-stimulating hormone receptor (FSHR) gene p. Thr307Ala (c.919A>G, rs6165) and p. Asn680Ser (c.2039A>G, rs6166) polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS).
Genotyping was performed in 377 women with PCOS and 388 age-matched controls. Difference in the genotype distribution was assessed using a Fisher's exact or chi-square test, and continuous variables were compared using a Student's t test. To evaluate the association between the presence of PCOS status and SNP, logistic regression analyses were performed.
Linkage disequilibrium between the two polymorphisms was approximately complete (r = 99%). The genotype distributions of the PCOS group significantly differed from those of the control group (Thr/Thr, Thr/Ala, and Ala/Ala frequencies were 38.5, 46.7, and 14.9% for the PCOS group and 46.6, 45.4, and 8.0% for the controls, respectively, P = .005; Asn/Asn, Asn/Ser, and Ser/Ser frequencies were 39.5, 47.2, and 13.3% for the PCOS group and 46.4, 45.4, and 8.2% for the controls, respectively, P = .035). Using the wild-type genotypes as the references, the odds ratios that a woman has PCOS were 2.23 (95% confidence intervals 1.38-3.68) for the Ala/Ala genotype, 1.87 (95% confidence intervals 1.14-3.06) for the Ser/Ser genotype, and 1.96 (95% confidence intervals 1.19-3.24) for the homozygous variant combination (Ser/Ser-Ala/Ala). However, there were no significant differences in serum hormonal, ovarian, and metabolic markers according to each genotype.
Findings of this study suggest a significant association between FSHR gene p. Thr307Ala or p. Asn680Ser coding sequence change and PCOS. The variant homozygote genotype results in a higher risk of PCOS.
本研究旨在调查促卵泡激素受体（FSHR）基因p.Thr307Ala（c.919A>G，rs6165）和p.Asn680Ser（c.2039A>G，rs6166）多态性是否与多囊卵巢综合征（PCOS）易感性相关。
对377例PCOS患者和388例年龄匹配的对照者进行基因分型。采用Fisher精确检验或卡方检验评估基因型分布差异，采用Student t检验比较连续变量。为评估PCOS状态与单核苷酸多态性（SNP）之间的关联，进行了逻辑回归分析。
两个多态性之间的连锁不平衡几乎完全（r=99%）。PCOS组的基因型分布与对照组显著不同（PCOS组Thr/Thr、Thr/Ala和Ala/Ala频率分别为38.5%、46.7%和14.9%，对照组分别为46.6%、45.4%和8.0%，P=.005；PCOS组Asn/Asn、Asn/Ser和Ser/Ser频率分别为39.5%、47.2%和13.3%，对照组分别为46.4%、45.4%和8.2%，P=.035）。以野生型基因型为参照，Ala/Ala基因型女性患PCOS的比值比为2.23（95%置信区间1.38 - 3.68），Ser/Ser基因型为1.87（95%置信区间1.14 - 3.06），纯合变异组合（Ser/Ser - Ala/Ala）为1.96（95%置信区间1.19 - 3.24）。然而，根据每种基因型，血清激素、卵巢和代谢标志物无显著差异。
本研究结果表明FSHR基因p.Thr307Ala或p.Asn680Ser编码序列改变与PCOS之间存在显著关联。变异纯合子基因型导致PCOS风险更高。
