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

  • Gonadal Physiology and Disease
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

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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Acknowledgments

We thank all the subjects for their active participation in the study and ICMR, India for providing financial assistance to Deepika M.L.N.

Disclosure statement

The authors declare that no competing financial interests exist.

Conflict of interest

None.

Author information

Authors and Affiliations

  1. Osmania University, Hyderabad, India

    M. L. N. Deepika, K. Ranjith Reddy, A. Yashwanth, K. Prasanna Latha & Parveen Jahan

  2. Govt. Maternity Hospital, Petlaburz, Hyderabad, India

    V. Usha Rani

Authors
  1. M. L. N. Deepika
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  2. K. Ranjith Reddy
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  3. A. Yashwanth
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  4. V. Usha Rani
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  5. K. Prasanna Latha
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  6. Parveen Jahan
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Corresponding author

Correspondence to Parveen Jahan.

Additional information

Capsule The TT genotype of rs1799964 confers protection in controls while the TC genotype predisposes the women to develop PCOS. The haplotypes with mutant alleles at both loci (rs1800629 and 1799964) revealed a two fold risk towards PCOS.

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Deepika, M.L.N., Reddy, K.R., Yashwanth, A. et al. TNF-α haplotype association with polycystic ovary syndrome – a South Indian study. J Assist Reprod Genet 30, 1493–1503 (2013). https://doi.org/10.1007/s10815-013-0080-4

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  • DOI: https://doi.org/10.1007/s10815-013-0080-4

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