Linkage exclusion analysis of two important chromosomal regions for height

Abstract: Adult height (stature), as an important parameter of human physical development, has been studied in many populations. Recently, we reported a whole genome scan of height on a sample of 630 Caucasian subjects from 53 human pedigrees. Two chromosome regions, 6q24–25 and 7q31.3–36, achieved low linkage signals (multipoint LOD score ⩽0.5), but gained significant results in the linkage studies of height by other groups. In addition, the region 6q24–25 harbors the ER-α gene, an important candidate gene for linear growth. To resolve the controversies over these two regions for height, linkage exclusion analyses were performed in an extended sample of 79 pedigrees with 1816 subjects, which include the 53 pedigrees containing 630 subjects for our previous whole genome study and additional 128 new subjects, and 26 new pedigrees containing 1058 subjects. The two regions, 6q24–25 and 7q31.3–36, were excluded at a relative effect size of 10% or greater (p value<0.0005) and 5% or greater (p value<0.0018), respectively. Our results suggest that the two regions may not contribute substantially to height variation in our Caucasian population. [Copyright &y& Elsevier]