Li J, Dalgleish R, Vujovic S, Dragojevic-Dikic S, Ivanisevic M, Ivovic M, Tancic M, Thompson J, Al-Azzawi F
a Gynaecology Research Unit , University Hospitals of Leicester , Leicester , UK.
b Department of Genetics and Genome Biology , University of Leicester , Leicester , UK.
Climacteric. 2018 Oct;21(5):472-477. doi: 10.1080/13697137.2018.1476967. Epub 2018 Aug 29.
This study aimed to investigate the potential role of microsatellite polymorphisms of the estrogen receptor alpha gene (ESR1) TA repeat, estrogen receptor beta gene (ESR2) CA repeat, and androgen receptor gene (AR) CAG and GGN repeats among Serbian women with primary ovarian insufficiency (POI). These microsatellites have been reported to be associated with POI in different racial/ethnic populations.
A cohort of 196 POI cases matched with 544 fertile controls was recruited by the Institute for Endocrinology, Diabetes and Metabolic Disorders of Serbia between 2007 and 2010. DNA was extracted from saliva. The four microsatellites were genotyped using a PCR-based assay to determine the repeat lengths.
POI patients carried shorter repeat lengths of ESR2 (CA) than controls (P = 0.034), but the difference was small. ESR1 (TA) was on the borderline of statistical differences between groups (P = 0.059). AR (CAG) and (GGN) showed no association with POI.
We cautiously conclude that microsatellite polymorphisms of gonadal steroid receptor genes might contribute to the genetic basis of POI in Serbian women, but a larger-scale study and family-based studies are warranted to validate our findings even though the sample size in this study is larger than any previously published in this field.
本研究旨在调查雌激素受体α基因（ESR1）TA重复序列、雌激素受体β基因（ESR2）CA重复序列以及雄激素受体基因（AR）CAG和GGN重复序列的微卫星多态性在塞尔维亚原发性卵巢功能不全（POI）女性中的潜在作用。据报道，这些微卫星在不同种族/民族人群中与POI相关。
2007年至2010年间，塞尔维亚内分泌、糖尿病和代谢紊乱研究所招募了196例POI病例，并与544例生育能力正常的对照进行匹配。从唾液中提取DNA。使用基于PCR的检测方法对这四个微卫星进行基因分型，以确定重复长度。
POI患者ESR2（CA）的重复长度比对照组短（P = 0.034），但差异较小。ESR1（TA）在两组之间的统计学差异临界值上（P = 0.059）。AR（CAG）和（GGN）与POI无关联。
我们谨慎地得出结论，性腺类固醇受体基因的微卫星多态性可能有助于塞尔维亚女性POI的遗传基础，但尽管本研究的样本量比该领域之前发表的任何研究都大，仍需要更大规模的研究和基于家系的研究来验证我们的发现。
