作者: Justine A. Ellis , Katrina J. Scurrah , Joanna E. Cobb , Sophie G. Zaloumis , Anna E. Duncan
DOI: 10.1007/S00439-006-0317-8
关键词: Population 、 Genetics 、 Androgen receptor 、 Genetic marker 、 Androgen 、 Male-pattern baldness 、 SNP 、 Exon 、 Biology 、 Genetic association 、 Genetics(clinical)
摘要: Androgenetic alopecia, or male pattern baldness, is a complex condition with strong heritable component. In 2001, we published the first significant evidence of genetic association between baldness and synonymous coding SNP (rs6152) in androgen receptor gene, AR. Recently, this finding was replicated three independent studies, confirming an important role for AR phenotype. one such replication study, it claimed that causative variant underlying likely to be polyglycine (GGN) repeat polymorphism, two apparently functional triplet polymorphisms located exon 1 transactivating domain gene. Here, extend our original present comprehensive from approximately 1,200 fathers sons drawn 703 families Victorian Family Heart Study, general population Caucasian cohort, neither polymorphism condition. Seventy-eight percent (531/683) 30% (157/520) were affected some degree AGA. We utilised statistical methods appropriate categorical nature phenotype familial structure determined whilst rs6152 strongly associated (P < 0.0001), GGN not = 0.13). absence any other known common variants, argue non-coding region, yet identified. The identification variants surrounding may have significance only but also many conditions thus far been linked