DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20162632

Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome

Sujatha Thathapudi, Jayashankar Erukkambattu, Uma Addepally, Vijayalakshmi Kodati, Qurratulain Hasan

Abstract


Background: Hyperandrogenism is the cornerstone of polycystic ovarian syndrome (PCOS) as per androgen excess society - 2006 criteria. Insulin-like growth factor 2 (IGF 2) gene stimulates ovarian androgen secretion and is involved in the pathogenesis of PCOS. The objective of this study was to study the association of insulin-like growth factor 2 (IGF2) gene Apa1 A820G (rs680) polymorphism with PCOS.

Methods: Prospective genetic case-control study, involving 204 women with PCOS and 204 healthy, sex and age matched controls. Anthropometric and biochemical profile were taken in a well-designed proforma. Isolation of deoxyribonucleic acid (DNA) by salting out method and genotype analysis was done for all the study population using PCR-RFLP.

Results: We have demonstrated an association between IGF2 Apa1 A820G gene (rs680) polymorphism and PCOS. Frequency of G allele was 0.40 in PCOS and 0.08 in controls (OR 7.639, CI 5.08 to 11.47, and P value <0.0001) indicates that the G allele is associated with PCOS in our population. The GG genotype conferred a significant risk of developing PCOS (OR 19.645, CI 2.569 to 148.61 and P value 0.0039). We found the significant association of GG genotype with body mass index and insulin resistance in PCOS when compared with controls.

Conclusions: This study suggests that IGF 2 gene Apa1 A820G polymorphism is associated with PCOS and could be used as a relevant molecular marker to identify women with risk of developing PCOS in our population and may provide an understanding about the etiology of PCOS.


Keywords


PCOS, Gene polymorphism, IGF, Apa1 variant

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