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Association between polymorphisms of the CYP11A1 gene and polycystic ovary syndrome in Chinese women

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Abstract

The cholesterol side chain cleavage enzyme (CYP11A1) gene plays an important part in the synthesis of sex hormones and has been reported to be involved in the pathogenesis of polycystic ovary syndrome. A case–control study including 314 PCOS patients and 314 controls was conducted to assess the association of the SNPs rs4077582 and rs11632698 in CYP11A1 with PCOS using the polymerase chain reaction-restriction fragment length polymorphism method. Thereafter, 100 DNA samples were re-genotyped by direct sequencing for confirmation. The genotypic distribution of rs4077582 in women with PCOS differed from that in controls (P = 0.002). No such distributional difference was found in rs11632698 (P = 0.912). Data from our previous study of these two SNPs in another population including 290 PCOS patients and 344 controls was combined with the current data. Combined analysis (a total of 1262 participants, including 604 PCOS patients and 658 control women) showed a much more significant difference in the genotypic distribution of rs4077582 between PCOS and controls (P < 0.001). The T allele was more prevalent in PCOS patients (Odds ratio = 1.314; 95 % CI 1.122–1.540). The testosterone levels among the three genotypes for rs4077582 were different in the control group, as were the LH levels and the LH/FSH ratio. Therefore, SNP rs4077582 in CYP11A1 is strongly associated with susceptibility to PCOS and may alter the testosterone levels by the regulation of LH in different genotypes. No association was observed in rs11632698.

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Abbreviations

PCOS:

Polycystic ovary syndrome

SNP:

Single nucleotide polymorphisms. P450scc: cytochrome P450 cholesterol side chain cleavage enzyme

LH:

Luteinizing hormone

FSH:

Follicle-stimulating hormone

E2:

Estradiol

BMI:

Body mass index (body weight in kilograms divided by square of height in meters)

T:

Testosterone

RIA:

Radio-immunity assay

PCR:

Polymerase chain reaction

OR:

Odds ratio

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Acknowledgments

We are extremely grateful to all the women who participated in our study. This study was supported by the National Natural Science Foundation of China (81170541) and the Natural Basic Research Program of China (973 program 2010CB945103).

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Authors and Affiliations

  1. Center for Translational Medicine & Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing, 210093, China

    Cheng-wei Zhang, Xin-lin Zhang, Yan-jie Xia, Pei Xu, Ye-na Che, Long Yi, Qian Gao & Yong Wang

  2. Department of Obstetrics and Gynecology, Anhui Medical University, Hefei, 230022, China

    Yun-xia Cao

  3. Department of Obstetric & Gynaecology, Centre of Reproduction, Memorial Hospital of Sun Yat-Sen University, Guangzhou, 510120, People’s Republic of China

    Wen-jun Wang

  4. Department of Obstetrics and Gynecology, The First Affiliated Hospital, Heilongjiang University of Chinese Medicine, Harbin, 150040, China

    Xiao-ke Wu

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  1. Cheng-wei Zhang
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  2. Xin-lin Zhang
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  3. Yan-jie Xia
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  11. Yong Wang
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Corresponding author

Correspondence to Yong Wang.

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Cheng-wei Zhang and Xin-lin Zhang contributed equally to this work.

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Zhang, Cw., Zhang, Xl., Xia, Yj. et al. Association between polymorphisms of the CYP11A1 gene and polycystic ovary syndrome in Chinese women. Mol Biol Rep 39, 8379–8385 (2012). https://doi.org/10.1007/s11033-012-1688-7

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  • DOI: https://doi.org/10.1007/s11033-012-1688-7

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