Association analyses of CYP19 gene polymorphisms with height variation in a large sample of Caucasian nuclear families. Hum Genet 2006 Aug;120(1):119-25
Date
05/31/2006Pubmed ID
16733710Pubmed Central ID
PMC1829483DOI
10.1007/s00439-006-0199-9Scopus ID
2-s2.0-33745686135 (requires institutional sign-in at Scopus site) 11 CitationsAbstract
Human height is a complex trait regulated by multiple genetic and environmental factors. CYP19 (cytochrome P450 19) encodes aromatase, which catalyses the rate-limiting step in the conversion of androgens to estrogens. Deleterious mutations in CYP19 can result in estrogen deficiency that will influence adult height to certain extent. In the present study, we aimed to test the associations between the CYP19 gene polymorphisms with adult height variation, using family-based association methods, such as QTDT (quantitative transmission disequilibrium test) and FBAT (family-based association test) in 1,873 subjects from 405 Caucasian nuclear families. We found one SNP (rs730154) significantly associated with height by both QTDT (P=0.0030) and FBAT (P=0.0016) analyses. Haplotype analyses corroborated our single-marker results by showing that the haplotypes in block 4 containing rs730154 were significantly associated with height variation. We thus concluded that CYP19 could be one of the genetic factors influencing adult height in Caucasians. Further studies are required to identify the causal functional variants responsible for Caucasian height within the CYP19 gene.
Author List
Yang TL, Xiong DH, Guo Y, Recker RR, Deng HWMESH terms used to index this publication - Major topics in bold
AdultAged
Aromatase
Body Height
Female
Gene Frequency
Genotype
Haplotypes
Humans
Linkage Disequilibrium
Male
Middle Aged
Nuclear Family
Polymorphism, Single Nucleotide