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An interleukin-6 gene promoter polymorphism is associated with polycystic ovary syndrome in South Indian women

  • Genetics
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Abstract

Purpose

Polycystic ovary syndrome (PCOS) is a most common endocrine disorder of reproductive age women. Interleukin-6 is involved in the pathophysiological characteristics associated with polycystic ovary syndrome (PCOS). The-174 G/C IL-6 gene promoter region single nucleotide polymorphism (SNP) may influence or modulate gene function and/or transcriptional efficiency. The current study was aimed to evaluate the association between IL-6 gene −174 G/C promoter polymorphism and Polycystic Ovary Syndrome in South Indian women.

Methods

In the present study, we examined the genotypic and allele distribution among the PCOS patients (n = 104) and controls (n = 156). The genotypes of IL-6 −174 G/C SNP were analyzed by polymerase chain reaction (PCR) and sequencing analysis. The allele frequency and genotype distributions of cases and controls were analyzed using Fisher’s exact test.

Results

The genotype frequencies observed among the 104 cases and 156 controls were G/G 66.3 % and 49.4 %, G/C 29.8 % and 46.8 %, and C/C 3.8 % and 3.8 % (OR: 1.6226, CI: 1.0574–2.4899). The G and C allele frequencies were 81.25 % and 72.8 %, and 18.75 % and 27.2 %, respectively. The genotype and allele distribution revealed significant differences between PCOS patients and controls (all P values < 0.05).

Conclusion

Our findings showed a significant statistical association between IL-6 −174 G/C SNP and PCOS risk in South Indian women. The ‘G’ allele frequency influences significantly higher in PCOS patients than controls. However, the exact mechanism by which ‘G’ allele frequency influence PCOS patients is yet to be determined.

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Acknowledgments

We are most grateful to all of the patients who participated in the present study and for providing a Project Assistant fellowship in OU-DST PURSE Programme (Lr No: A-07/PURSE/Coord/2011) to BM.

Author Disclosure Statement

No competing financial interests exist

Funding

This study was supported in part by grants from the Department of Science and Technology (DST), India (Lr No: SR/FT/LS-188/2009) to BM.

Author information

Authors and Affiliations

  1. Department of Biochemistry, Osmania University, Hyderabad, 500 007, India

    Venkat Reddy Tumu, Suresh Govatati, Praveen Guruvaiah & Manjula Bhanoori

  2. Infertility Institute and Research Centre (IIRC), Secundrabad, India

    Mamata Deenadayal

  3. Centre for Cellular and Molecular Biology (CCMB), Hyderabad, 500 007, India

    Sisinthy Shivaji

Authors
  1. Venkat Reddy Tumu
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  2. Suresh Govatati
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  6. Manjula Bhanoori
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Correspondence to Manjula Bhanoori.

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Capsule

IL-6 −174 G/C promoter polymorphism is associated with PCOS in south Indian women. ‘G’ allele might confer risk and ‘C’ allele offer protection against the disease.

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Tumu, V.R., Govatati, S., Guruvaiah, P. et al. An interleukin-6 gene promoter polymorphism is associated with polycystic ovary syndrome in South Indian women. J Assist Reprod Genet 30, 1541–1546 (2013). https://doi.org/10.1007/s10815-013-0111-1

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