Journal of Assisted Reproduction and Genetics

, Volume 30, Issue 11, pp 1493–1503 | Cite as

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

  • M. L. N. Deepika
  • K. Ranjith Reddy
  • A. Yashwanth
  • V. Usha Rani
  • K. Prasanna Latha
  • Parveen JahanEmail author
Gonadal Physiology and Disease



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.


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.


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.


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.


Cytokine Diet Gene-environment Haplotype Inflammation PCOS/Polymorphism Tumor Necrosis Factor 



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



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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • M. L. N. Deepika
    • 1
  • K. Ranjith Reddy
    • 1
  • A. Yashwanth
    • 1
  • V. Usha Rani
    • 2
  • K. Prasanna Latha
    • 1
  • Parveen Jahan
    • 1
    Email author
  1. 1.Osmania UniversityHyderabadIndia
  2. 2.Govt. Maternity HospitalHyderabadIndia

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