DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Menarche (age at onset). The EFO term age at menarche was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: age at menarche

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

KK Ong, CE Elks, S Li, JH Zhao, J Luan, LB Andersen, SA Bingham, S Brage, GD Smith, U Ekelund, CJ Gillson, B Glaser, J Golding, R Hardy, KT Khaw, D Kuh, R Luben, M Marcus, MA McGeehin, AR Ness, K Northstone, SM Ring, C Rubin, MA Sims, K Song, DP Strachan, P Vollenweider, G Waeber, DM Waterworth, A Wong, P Deloukas, I Barroso, V Mooser, RJ Loos, NJ Wareham

TITLE:

Genetic variation in LIN28B is associated with the timing of puberty.

JOURNAL:

Nature genetics Jun 2009, Vol 41, pp. 729-33

ABSTRACT:

The timing of puberty is highly variable. We carried out a genome-wide association study for age at menarche in 4,714 women and report an association in LIN28B on chromosome 6 (rs314276, minor allele frequency (MAF) = 0.33, P = 1.5 × 10(-8)). In independent replication studies in 16,373 women, each major allele was associated with 0.12 years earlier menarche (95% CI = 0.08-0.16; P = 2.8 × 10(-10); combined P = 3.6 × 10(-16)). This allele was also associated with earlier breast development in girls (P = 0.001; N = 4,271); earlier voice breaking (P = 0.006, N = 1,026) and more advanced pubic hair development in boys (P = 0.01; N = 4,588); a faster tempo of height growth in girls (P = 0.00008; N = 4,271) and boys (P = 0.03; N = 4,588); and shorter adult height in women (P = 3.6 × 10(-7); N = 17,274) and men (P = 0.006; N = 9,840) in keeping with earlier growth cessation. These studies identify variation in LIN28B, a potent and specific regulator of microRNA processing, as the first genetic determinant regulating the timing of human pubertal growth and development. PUBMED: 19448623
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