rs111610561 - RGS9 - LINC02563

Magnitude 2.2 · 1 study on file

Reported associations

• A genome-wide association study identifies FSHR rs2300441 associated with follicle-stimulating hormone levels. - Clinical genetics (2021) · Yan J, Tian Y, Gao X, Cui L, Ning Y, Cao Y, Chen Y, Peng F, You L, Liu F, Zhao H · PubMed 32185793

  Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) play critical roles in female reproduction, while the underlying genetic basis is poorly understood. Genome-wide association studies (GWASs) of FSH and LH levels were conducted in 2590 Chinese females including 1882 polycystic ovary syndrome (PCOS) cases and 708 controls. GWAS for FSH level identified multiple variants at FSHR showing genome-wide significance with the top variant (rs2300441) located in the intron of FSHR. The A allele of rs2300441 led to a reduced level of FSH in the PCOS group (β = -.43, P = 6.70 × 10 ) as well as in the control group (β = -.35, P = 6.52 × 10 ). In the combined sample, this association was enhanced after adjusting for the PCOS status (before: β = -.38, P = 1.77 × 10 ; after:

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