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 Height. The EFO term body height 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: body height

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

A Johansson, F Marroni, C Hayward, CS Franklin, AV Kirichenko, I Jonasson, AA Hicks, V Vitart, A Isaacs, T Axenovich, S Campbell, MG Dunlop, J Floyd, N Hastie, A Hofman, S Knott, I Kolcic, I Pichler, O Polasek, F Rivadeneira, A Tenesa, AG Uitterlinden, SH Wild, IV Zorkoltseva, T Meitinger, JF Wilson, I Rudan, H Campbell, C Pattaro, P Pramstaller, BA Oostra, AF Wright, CM van Duijn, YS Aulchenko, U Gyllensten

TITLE:

Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.

JOURNAL:

Human molecular genetics Jan 2009, Vol 18, pp. 373-80

ABSTRACT:

Genes for height have gained interest for decades, but only recently have candidate genes started to be identified. We have performed linkage analysis and genome-wide association for height in approximately 4000 individuals from five European populations. A total of five chromosomal regions showed suggestive linkage and in one of these regions, two SNPs (rs849140 and rs1635852) were associated with height (nominal P = 7.0 x 10(-8) and P = 9.6 x 10(-7), respectively). In total, five SNPs across the genome showed an association with height that reached the threshold of genome-wide significance (nominal P < 1.6 x 10(-7)). The association with height was replicated for two SNPs (rs1635852 and rs849140) using three independent studies (n = 31 077, n=1268 and n = 5746) with overall meta P-values of 9.4 x 10(-10) and 5.3 x 10(-8). These SNPs are located in the JAZF1 gene, which has recently been associated with type II diabetes, prostate and endometrial cancer. JAZF1 is a transcriptional repressor of NR2C2, which results in low IGF1 serum concentrations, perinatal and early postnatal hypoglycemia and growth retardation when knocked out in mice. Both the linkage and association analyses independently identified the JAZF1 region affecting human height. We have demonstrated, through replication in additional independent populations, the consistency of the effect of the JAZF1 SNPs on height. Since this gene also has a key function in the metabolism of growth, JAZF1 represents one of the strongest candidates influencing human height identified so far. PUBMED: 18952825
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