Rare coding variants and X-linked loci associated with age at menarche
- Lunetta, Kathryn L.
- Day, Felix R.
- Sulem, Patrick
- Ruth, Katherine S.
- Tung, Joyce Y.
- Hinds, David A.
- Esko, Tonu
- Elks, Cathy E.
- Altmaier, Elisabeth
- He, Chunyan
- Huffman, Jennifer E.
- Mihailov, Evelin
- Porcu, Eleonora
- Robino, Antonietta
- Rose, Lynda M.
- Schick, Ursula M.
- Stolk, Lisette
- Teumer, Alexander
- Thompson, Deborah J.
- Traglia, Michela
- Wang, Carol A.
- Yerges-Armstrong, Laura M.
- Antoniou, Antonis C.
- Barbieri, Caterina
- Coviello, Andrea D.
- Cucca, Francesco
- Demerath, Ellen W.
- Dunning, Alison M.
- Gandin, Ilaria
- Grove, Megan L.
- Gudbjartsson, Daniel F.
- Hocking, Lynne J.
- Hofman, Albert
- Huang, Jinyan
- Jackson, Rebecca D.
- Karasik, David
- Kriebel, Jennifer
- Lange, Ethan M.
- Lange, Leslie A.
- Langenberg, Claudia
- Li, Xin
- Luan, Jian'an
- Maegi, Reedik
- Morrison, Alanna C.
- Padmanabhan, Sandosh
- Pirie, Ailith
- Polasek, Ozren
- Porteous, David
- Reiner, Alex P.
- van der Schouw, Yvonne T.
DOIAbstract
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele;
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