Significant population variation in adult male height associated with the Y chromosome and the aromatase gene

The determination of human adult height is dependent on both environmental and genetic factors. Rare causes of abnormal stature have been identified, including mutations in the gene encoding aromatase (CYP19) and regions on t he Y chromosome. However, the possible role of these loci in the genetic co ntrol of normal adult height is unknown. We have performed an association s tudy using common biallelic polymorphisms within CYP19 and the Y chromosome to determine whether these loci are associated with variation in height in 413 adult males and 335 females drawn at random from a large population sa mple. An association between CYP19 and height was found (difference, 2.0 cm ; 95%, confidence interval, 0.16-3.8; P = 0.003), but this was more evident in men (difference, 2.3 cm; 95% confidence interval, 0.38-4.4; P = 0.05) t han women (difference, 0.2 cm; 95% confidence interval, -2.1 to 1.6; P = 0. 94). An association was also found with the Y chromosome (P = 0.009; differ ence of 1.9 cm; 95% confidence interval, 0.5-3.4). Additionally, when men w ere grouped according to haplotypes of the CYP19 and Y chromosome polymorph isms, a difference of 4.2 cm (95% confidence interval, 0.67-7.3) was detect ed (P = 0.004). These results suggest that in men, genetic variation in CYP 19 and on the Y chromosome are involved in determining normal adult height, and that these loci may interact in an additive fashion.