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Molecular Biology Reports

, Volume 46, Issue 2, pp 2131–2138 | Cite as

Association of rs6259 polymorphism with SHBG levels and Poly Cystic Ovary Syndrome in Indian population: a case control study

  • Richa Bhatnager
  • Alka Senwal
  • Smiti Nanda
  • Amita S. DangEmail author
Original Article
  • 70 Downloads

Abstract

Polycystic ovary syndrome (PCOS) is the most common endocrinopathy of reproductive-aged women. PCOS reflects a number of possible etiologies but its pathophysiology is still unclear. The principal abnormality of the syndrome is hyperandrogenism (70–80%). The access of androgens to target tissues is regulated by sex hormone-binding globulin (SHBG), a transport protein secreted by liver i.e. specific for androgens. Present study was done to find the association of rs6259 polymorphism with SHBG levels and Poly Cystic Ovary Syndrome in Indian population. Present study was a case control study. 400 subjects were enrolled for the study and serum SHBG levels and D327N polymorphism were measured. The D327N polymorphism (wild-type and variant allele) was detected using PCR-RFLP method (restriction enzyme Bbs-I). PCOS group was found to have significantly lower SHBG levels than healthy controls. There was no significant difference in genotype distribution between PCOS and controls (χ2 = 1.0335, p = 0.59). Significant difference in SHBG levels of PCOS and control group highlights the potential of SHBG as a biomarker for PCOS. However, no significant difference in genotype distribution between PCOS and controls provided an insight that rs6259 polymorphism is not associated with the risk of PCOS and SHBG levels.

Keywords

PCOS SHBG Diagnostic marker Susceptibility marker Polymorphism 

Notes

Acknowledgements

Authors acknowledge DST-INSPIRE division and DBT-HRD to support the research work and Centre for Medical biotechnology, MDU, Rohtak, Haryana, India to provide a research platform to carry out research work.

Compliance with ethical standards

Conflict of interest

Authors declare no conflict of interest.

Supplementary material

11033_2019_4665_MOESM1_ESM.doc (224 kb)
Supplementary material 1 Fig. 1 Study Population segregation: study population was screened according to Rotterdam criteria. SHBG levels measurement and PCR-RFLP pattern was analyzed; Subjects were also segregated on BMI to find its association with polymorphism under study. PCOS patients were segregated on the basis of presence and absence of Hyperandrogenism (HA) to evaluate the role of rs6259 in predisposition of hyperandrogenism as well. Fig. 2 Receiver’s Operative curve for SHBG as a diagnostic marker for PCOS: Significant difference in PCOS (Poly Cystic Ovary Syndrome) and control population highlights the potential of SHBG (Sex hormone binding globulin) to be used as a diagnostic marker for the identification of the syndrome ROC curve with a specificity and sensitivity 93.51 and 99.38% respectively. Fig. 3 Receiver’s Operative curve for SHBG as a susceptibility marker for PCOS: Reduced SHBG (Sex hormone binding globulin) levels were found in obese PCOS (Poly Cystic Ovary Syndrome) patients than lean PCOS patients. Hence it can be predicted as a marker to differentiate obese and lean population with a specificity and sensitivity score 90.57 and 98.67% respectively. Fig. 4 Receiver’s Operative curve for SHBG as a phenotypic differential marker for PCOS: SHBG (Sex hormone binding globulin) levels were low in Hyperandrogenic PCOS patients than Non hyperandrogenic PCOS (Poly Cystic Ovary Syndrome) subjects. The result can be used as a marker with a specificity and sensitivity score 94.69 and 97.31% respectively. Supplementary Fig. 5 Restriction analysis of PCR product on 3% agarose gel: Lane 1: 50 bp ladder, lane 2: AA genotype (290 bp), Lane3 and 5: GG genotype (223 bp product and 67 bp product: not visible), lane 4: GA genotype (290,223, 67 bp digested product) (DOC 224 KB)

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Copyright information

© Springer Nature B.V. 2019

Authors and Affiliations

  1. 1.Centre for Medical BiotechnologyMaharshi Dayanand UniversityRohtakIndia
  2. 2.Pandit Bhagwat Dayal Sharma Institute of Medical SciencesRohtakIndia

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