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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 (nominalP= 7.0 × 10−8andP= 9.6 × 10−7, respectively). In total, five SNPs across the genome showed an association with height that reached the threshold of genome-wide significance (nominalP&lt; 1.6 × 10−7). The association with height was replicated for two SNPs (rs1635852 and rs849140) using three independent studies (n= 31 077,n=1268 andn= 5746) with overall metaP-values of 9.4 × 10−10and 5.3 × 10−8. These SNPs are located in theJAZF1gene, which has recently been associated with type II diabetes, prostate and endometrial cancer.JAZF1is a transcriptional repressor ofNR2C2, 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 theJAZF1region affecting human height. We have demonstrated, through replication in additional independent populations, the consistency of the effect of theJAZF1SNPs on height. Since this gene also has a key function in the metabolism of growth,JAZF1represents one of the strongest candidates influencing human height identified so far.

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