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Published in: Journal of Assisted Reproduction and Genetics 11/2013

01-11-2013 | Gonadal Physiology and Disease

TNF-α haplotype association with polycystic ovary syndrome – a South Indian study

Authors: M. L. N. Deepika, K. Ranjith Reddy, A. Yashwanth, V. Usha Rani, K. Prasanna Latha, Parveen Jahan

Published in: Journal of Assisted Reproduction and Genetics | Issue 11/2013

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Abstract

Background

Tumor Necrosis Factor Alpha (TNF-α), is a proinflammatory cytokine in the pathogenesis of Polycystic Ovary Syndrome (PCOS). In order to investigate the role of rs1800629 and rs1799964 polymorphisms in relation to anthropometric measures, family history of complex diseases, diet and clinical features, we performed a case control study in PCOS women from South India.

Methods

A total of 589 samples comprising of 283 patients and 306 controls were enrolled in the present study. Patients were selected based on Rotterdam criteria and ultrasound scanned normal women were selected as controls. Following extraction of DNA, genotyping for rs1800629 and rs1799964 was performed by polymerase chain reaction using tetra primers and PCR-RFLP respectively.

Results

The distribution of genotypes for rs1799964 was significantly different between the groups (p = 0.001), however it was not for rs1800629. Haplotype analysis revealed a significant difference between patients and controls. The predisposing and protective role of haplotype with mutant allele at both loci (combination 3) and haplotype with mutant allele at either loci was reflected by the over representation of combination 3 in patients and combination 2 in controls respectively. In addition, rs1799964 showed an association with dietary habit, clinical hyperandrogenism and AAO. The modifying role of TT genotype on age at onset was noted in quartile analysis.

Conclusion

Replicative studies on the influence of TNF-α polymorphism in different ethnic groups may identify the potentiality of these polymorphisms as markers of inflammation and in turn may help the clinicians for the better management of the condition.
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Metadata
Title
TNF-α haplotype association with polycystic ovary syndrome – a South Indian study
Authors
M. L. N. Deepika
K. Ranjith Reddy
A. Yashwanth
V. Usha Rani
K. Prasanna Latha
Parveen Jahan
Publication date
01-11-2013
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 11/2013
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-013-0080-4

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