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Journal of Assisted Reproduction and Genetics

Published in:

01-07-2014 | Genetics

CYP11A1 microsatellite (tttta)_n polymorphism in PCOS women from South India

Authors: K. Ranjith Reddy, M. L. N. Deepika, K. Supriya, K. Prasanna Latha, S. S. Lakshmana Rao, V. Usha Rani, P. Jahan

Published in: Journal of Assisted Reproduction and Genetics | Issue 7/2014

Abstract

Background

Polycystic ovary syndrome (PCOS) is a condition with central feature of hyperandrogensism that affects 5-12 % of women worldwide. P450sec the cholesterol side chain cleavage enzyme encoded by CYP11A1 gene is instrumental in the synthesis of sex hormones. A promoter pentanucleotide repeat (tttta)_n polymorphism of this gene is reported to be associated with several hormone related diseases including PCOS. Here we aimed to examine the involvement of CYP11A1 polymorphism with PCOS susceptibility in a case–control study conducted among South Indian women.

Methods

A total of 542 subjects comprised of 267 PCOS patients and 275 controls were recruited. DNA was extracted from blood and CYP11A1 (tttta)_n polymorphism was genotyped by PCR-PAGE.

Results

Fifteen different alleles ranging between 2–16 repeats were identified in the studied group and the most frequent allele observed in controls was of 8 repeats. The presence of >8 repeat allele was common in patients (64 % vs. 38 %) and showed a three-fold risk for PCOS susceptibility than controls (OR = 2.93; p < 0.05). PCOS women with higher BMI were markedly elevated in early quartile (p < 0.05).

Conclusion

CYP11A1 (tttta)_n repeat polymorphism appeared to be a potential molecular marker for PCOS risk in our population. Gene-gene and gene-environmental interactions with respect to obesity may play a role in the early onset of this multifactorial condition. This is the first report from South India; however, replicative studies considering other probable causative factors for PCOS risk are warranted.

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Title: CYP11A1 microsatellite (tttta)n polymorphism in PCOS women from South India
Authors: K. Ranjith Reddy
M. L. N. Deepika
K. Supriya
K. Prasanna Latha
S. S. Lakshmana Rao
V. Usha Rani
P. Jahan
Publication date: 01-07-2014
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 7/2014
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-014-0236-x

At a glance: The STEP trials

Springer Medicine

CYP11A1 microsatellite (tttta)_n polymorphism in PCOS women from South India

Abstract

Background

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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