Rare coding variants and X-linked loci associated with age at menarche.

Nat Commun
Authors
Keywords
Abstract

More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding 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; P

Year of Publication
2015
Journal
Nat Commun
Volume
6
Pages
7756
Date Published
2015 Aug 04
ISSN
2041-1723
URL
DOI
10.1038/ncomms8756
PubMed ID
26239645
PubMed Central ID
PMC4538850
Links
Grant list
MC_UP_A100_1003 / Medical Research Council / United Kingdom
11174 / Cancer Research UK / United Kingdom
P30 CA015704 / CA / NCI NIH HHS / United States
MR/K026992/1 / Medical Research Council / United Kingdom
UL1 TR001108 / TR / NCATS NIH HHS / United States
MC_UU_12015/1 / Medical Research Council / United Kingdom
MC_U106179471 / Medical Research Council / United Kingdom
MC_UU_12015/2 / Medical Research Council / United Kingdom
MC_U106179472 / Medical Research Council / United Kingdom
R01 AG029451 / AG / NIA NIH HHS / United States
CZD/16/6/4 / Chief Scientist Office / United Kingdom
MC_PC_U127561128 / Medical Research Council / United Kingdom
UM1 CA182913 / CA / NCI NIH HHS / United States
R21 AG032598 / AG / NIA NIH HHS / United States
MC_UU_12015/5 / Medical Research Council / United Kingdom