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Polymorphisms of pentanucleotide repeats (tttta)n in the promoter of CYP11A1 and their relationships to polycystic ovary syndrome (PCOS) risk: a meta-analysis

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Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases with an uncertain pathology and the most frequent incretory disorder in women of reproductive age, often leading to female infertility. Evidence has shown that genetic factors may contribute to the etiology of PCOS. Contradictory results have been reported concerning the association between PCOS and the CYP11A1 gene promoter −528 bp pentanucleotide (tttta)n repeat polymorphism. In order to get an overall understanding of the association between the CYP11A1 gene promoter −528 bp pentanucleotide (tttta)n repeat polymorphism and PCOS, case–control studies regarding this association were extracted from MEDLINE, Ovid EMBASE and PubMed and pooled for meta-analysis. In dichotomous allelic analyses with 1,236 PCOS patients and 1,306 control subjects, the odds ratios (ORs) were very close to 1. In dichotomous genotypic analyses with 1,063 PCOS patients and 1,176 control subjects, the (tttta)4 genotype may increase the risk of PCOS in a recessive model with OR 1.44, 95 % confidence interval (CI) 1.12–1.85, and the (tttta)6 genotype may decrease the risk of PCOS in a dominant model with OR 0.76, 95 % CI 0.61–0.93. In continuous analyses with 1,085 PCOS patients and 1,216 control subjects, the Mean Difference (MD) was −0.07 with a 95 % CI −0.18 to 0.05, showing no difference between PCOS and control groups. No publication bias was found in either dichotomous or continuous analyses. Taken together, there may be an association between CYP11A1 promoter pentanucleotide repeat polymorphism and PCOS. Further research is needed to strictly confirm our findings.

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Acknowledgments

We would like to thank Dr. Stephen Franks, Dr. Zijiang Chen and Dr. Anurupa Maitra for answering our e-mails and giving valuable advice to our meta-analysis. This work was supported by grants from the National Basic Research Program of China (No. 2011CB504502), the National Natural Science Foundation of China (Grant No. 8100467 and No. 81270747), Innovation Program of Shanghai Municipal Education Commission (Grant No. 13ZZ001) and the Fundamental Research Fund for Central University.

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The authors declare no conflicts of interest, financial or otherwise.

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Authors and Affiliations

  1. Shanghai Ji Ai Genetics and IVF Institute, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China

    Min Yu & Xiaoxi Sun

  2. State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China

    Ruizhi Feng, Haojue Wang, Huan Wang, Qing Sang, Li Jin & Lei Wang

  3. Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China

    Lin He

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  1. Min Yu
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Correspondence to Lei Wang.

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Min Yu and Ruizhi Feng contributed equally to this work.

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Yu, M., Feng, R., Sun, X. et al. Polymorphisms of pentanucleotide repeats (tttta)n in the promoter of CYP11A1 and their relationships to polycystic ovary syndrome (PCOS) risk: a meta-analysis. Mol Biol Rep 41, 4435–4445 (2014). https://doi.org/10.1007/s11033-014-3314-3

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