rs112344779 - LINC03077

Magnitude 2.2 · 1 study on file

Reported associations

• Large trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche. - Human reproduction (Oxford, England) (2021) · Sarnowski C, Cousminer DL, Franceschini N, Raffield LM, Jia G, Fernández-Rhodes L, Grant SFA, Hakonarson H, Lange LA, Long J, Sofer T, Tao R, Wallace RB, Wong Q, Zirpoli G, Boerwinkle E, Bradfield JP, Correa A, Kooperberg CL, North KE, Palmer JR, Zemel BS, Zheng W, Murabito JM, Lunetta KL · PubMed 34021356

  Does the expansion of genome-wide association studies (GWAS) to a broader range of ancestries improve the ability to identify and generalise variants associated with age at menarche (AAM) in European populations to a wider range of world populations? By including women with diverse and predominantly non-European ancestry in a large-scale meta-analysis of AAM with half of the women being of African ancestry, we identified a new locus associated with AAM in African-ancestry participants, and generalised loci from GWAS of European ancestry individuals. AAM is a highly polygenic puberty trait associated with various diseases later in life. Both AAM and diseases associated with puberty timing vary by race or ethnicity. The majority of GWAS of AAM have been performed in European ancestry women.

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