MedGen

Body mass index (BMI), which reflects the amount of fat, lean mass, and body build, is a heterogeneous trait influenced by both genetic and environmental factors. Several studies have estimated the heritability of body mass index to be 40 to 55% (Bouchard et al., 1998; Rice et al., 1999). For discussion of genetic heterogeneity of BMI quantitative trait loci and their known or possible associations with variation in specific genes, see MAPPING and MOLECULAR GENETICS sections. [from OMIM]

Stature (adult height) is an example of a complex genetic trait involving multiple genetic loci. Although complex traits are often difficult to study by linkage analysis, Hirschhorn et al. (2001) suggested that stature is a suitable complex trait for study because of the high heritability and the relatively limited contribution of environmental factors. Thus, linkage analysis has been used to identify quantitative trait loci for stature (STQTL) including STQTL1 on chromosome 6q24, STQTL2 (606256) on chromosome 7q31-q36, STQTL3 (606257) on chromosome 12p11-q14, STQTL4 (606258) on chromosome 13q32-q33, STQTL5 (608982) on chromosome 3p26, STQTL6 (300591) on chromosome Xq24, STQTL7 (609822) on chromosome 1p21, STQTL8 (610114) on chromosome 9q22, STQTL9 (611547) on chromosome 12q14.3, STQTL10 (612221) on chromosome 3q23, STQTL11 (612223) on chromosome 7q21-q22, STQTL12 (612224) on chromosome 4q28-q32, STQTL13 (612226) on chromosome 4p13.3, STQTL14 (612228) on chromosome 20q11.22, STQTL15 (612578) on chromosome 8q21.13, STQTL16 (612579) on chromosome 15q22.31, STQTL17 (612737) on chromosome 7p15, STQTL18 (612892) on chromosome 6p22.1, STQTL19 (612893) on chromosome 6p21.31, STQTL20 (612894) on chromosome 13q14.3, STQTL21 (613440) on chromosome 2q37.1, STQTL22 (613547) on chromosome 16q24, STQTL23 (613548) on chromosome 1p32, and STQTL24 (613549) on chromosome 2p16. See also X-linked short stature (300582) associated with mutations in the SHOX gene (312865). Associations Pending Confirmation For discussion of a possible association between short stature and variation in the CYP26C1 gene, see 608428. [from OMIM]