| Background and Objective: Polycystic ovarian syndrome (PCOS) is the most common endocrinologic disorder in women of reproductive age. It is the most common chronic unovulatory infertility and hyperandrogenism. This syndrome is characterized by diverse clinical symptoms and complicated endocrine features.Hyperandrogenism is the primary endocrine features of PCOS and can lead to diverse clinical symptoms and bad ending. Up to date, the certain cause of PCOS is still unknown. PCOS shows significant familial aggregation and studies reveals that the hereditary factors play an important role in the pathogenesis of PCOS. The clinical symptoms and biochemical features in PCOS appear to be heterogeneity. Many studies pointed out that PCOS may be explained by the interaction of a few key gene and tiny effect genes with genetic susceptibility and environmental factors, and the key gene is likely different between different ethics and families. There were many different investigations of genes of PCOS abroad, but the results were not uniform between different studies. There were few studies on the causative gene of PCOS in our country.We chose the candidate gene associated with androgen receptor gene to study, considering the endocrinal characteristics such as hyperandrogenism. The purpose of this study is to explore the association between the CAG microsatellite polymorphism of androgen receptor gene and clinical characteristics with PCOS, and to search the causative genes of PCOS so as to provide theoretical base to prevent and treat PCOS.Methods: Genomic DNA was extracted from the mononuclear blood cells from 128 cases of PCOS and 115 nomal women as controls, one portion of which was amplified via PCR. The products were resolved by electrophoresis on denaturing polyacrylamidegels and visualized through silver staining, the CAG repeat numbers were assessed by the mobility of their products and sequencing for representative samples; another portion was employed to obtaining blood-serum for measure of the hormone and lipid-metabolism. Menstruation, hirsutism information, acne, body weight, body height, waistline, hip circumference, blood pressure, the amount of antro-follicles of left and right ovaries, body mass index, waist-to-hip ratio, insulin resistance, and free-androgen index are recorded. The correlation between the CAG microsatellite polymorphism in the androgen receptor gene and PCOS patients' T, LH, IR, BMI, FAI, menstruation cycle, body hair Ferriman-Gallny(F-G) score, blood pressure, waist-to-hip ratio, the amount of antro-follicles of left and right ovaries, TG, CHO, LDL, HLDL, the frequency of acne was analyzed.Results:1. AR-CAG alleles rang from 8～35 in PCOS and 11～32 in controls.The most repeats were 22(14.6%),23 (9.5%),20(8.9%) in PCOS and 22(13.5%),20(8.6%),24(6.5%) in controls. There were no differences in the mean of the biallelic means between two groups, being 22.17±3.20 and 21.67±3.35, respectively.2. The frequency of short CAG(n≤22) was 34.4%(44/128) in PCOS and 46.1%(53/115) in control, while that of long CAG(n＞22) was 65.6%(84/128) and 53.9%(62/115) (P＞0.05), respectively.3. The PCOS patients with short CAG(n≤22) and long CAG(n＞22) are compared, which shows that there is no statistical significant difference (P＞0.05) in the two groups of LH, T, IR, BMI, FAI, menstruation cycle, body hair Ferriman-Gallny(F-G) score, blood pressure, waist-to-hip ratio, the amount of antro-follicles of left and right ovaries, TG, CHO, LDL, HLDL, the frequency of ache. The frequency of short CAG(n≤22) in PCOS with hyperandrogenism(T≥3.0 nmol/L) was higher than that of without hyperandrogenism(T＜3.0 nmol/L), but the difference was not significant(P＞0.05).Conclusion: Microsatellite CAG polymorphism of AR gene exists in Han ethnic women in Shandong province and the polymorphism does not relate to PCOS. |
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