rs13405728

This variant is located in the LHCGR gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

polycystic ovary syndrome

Chen ZJ et al. “Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.” Nature Genetics 43(1):55-9 (2011)
Allele A
OR 1.41
p 8.0e-21
N 1,639
Large GWAS
East Asian
Shi Y et al. “Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.” Nature Genetics 44(9):1020-5 (2012)
Allele A
OR 1.35
p 4.0e-9
N 5,255
Large GWAS
East Asian

About LHCGR

This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]

View all LHCGR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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