rs17635850

This variant is located in the GNRHR gene.

▶

ClinVar annotation

Benign★★★☆
2 submitters1 publication

Hypogonadotropic hypogonadism 7 with or without anosmia; not provided

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Common genetic variation in the 3′-untranslated region of gonadotropin-releasing hormone receptor regulates gene expression in cella and is associated with thyroid function, insulin secretion as well as insulin sensitivity in polycystic ovary syndrome patients
AssociationN=948Qiaoli Li et al.(2011)· Human Genetics

This candidate gene study investigated whether genetic variation in GNRHR (gonadotropin-releasing hormone receptor) associates with thyroid function, insulin secretion, and insulin sensitivity in PCOS patients. The 3'-UTR variant rs1038426 was significantly associated with serum TSH concentration (P=0.007), change in insulin levels during OGTT (P=0.004), and insulin sensitivity index (P=0.014). Functional reporter assays demonstrated that the rs1038426 T allele increased GNRHR expression in vitro.

Traits studied:Insulin secretionInsulin sensitivityPolycystic ovary syndrome (PCOS)Thyroid function (TSH levels)
PubMedDOIMetascience Observatory

About GNRHR

This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]

View all GNRHR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…