rs6259

This is a variant in the SHBG gene that changes a aspartate to an asparagine.

ClinVar annotation

Benign★★★
3 submitters1 publication

SHBG-related disorder

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Research that mentions this SNP (2)

Effect of sex hormone–binding globulin polymorphisms on the outcome of in vitro fertilization‐embryo transfer for polycystic ovary syndrome patients: A case‐control study
AssociationN=478Yang Liu et al.(2019)· Journal of Cellular Biochemistry

This case-control study investigated the association of SHBG polymorphisms with polycystic ovary syndrome (PCOS) and IVF-ET outcomes in 261 PCOS patients and 217 controls. SHBG rs6259 GA+AA genotypes showed significantly reduced SHBG protein levels (P<0.05) and were associated with increased PCOS risk (OR=1.734, 95% CI: 1.200-2.505). The rs6259 A allele was a risk factor for PCOS (OR=1.600, 95% CI: 1.184-2.162, P=0.002). rs6259 GA+AA carriers had lower retrieved oocyte and embryo numbers, reduced fertility rates, and elevated abortion rates and OHSS incidence compared to GG carriers.

Traits studied:In vitro fertilization-embryo transfer (IVF-ET) outcomeOvarian hyperstimulation syndrome (OHSS)Polycystic ovary syndrome (PCOS)
COX2 and NOS3 gene polymorphisms in women with gestational diabetes
ReviewMaciej Tarnowski et al.(2017)· The Journal of Gene Medicine

This comprehensive review synthesizes literature on gestational diabetes mellitus (GDM), demonstrating its complex multifactorial etiology involving genetic factors (SNPs in GCKR, KCNQ1, MTNR1B, TCF7L2), epigenetic modifications (DNA methylation and microRNA expression), and alterations in microbial composition across multiple body sites. While certain SNP variants are associated with GDM phenotypes globally, genetic predisposition alone does not explain disease development; lifestyle factors can modify epigenetic signatures and microbiota composition to modulate risk. Evidence indicates genes, epigenetic alterations, and microbiota can transfer from mother to offspring with long-term health consequences.

Traits studied:Cardiovascular diseaseFetal macrosomiaGestational diabetes mellitusHyperglycemiaHyperlipidemiaHypoglycemiaImpaired insulin secretionInflammatory conditionsInsulin resistanceMetabolic syndromeObesityPreeclampsiaType 2 diabetes

About SHBG

This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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