title: Evidence for two independent functional variants for androgenetic alopecia around the androgen receptor gene.
abstract: The gene encoding the androgen receptor (AR) is associated with male pattern baldness (androgenetic alopecia - AGA). In case-control and family analyses, we mapped AR and the adjacent intergenic regions. We found evidence for association with two independent loci, one upstream and previously described and the other downstream and apparently novel. The haplotype comprising these SNPs was strongly associated with AGA (P = 3.75 × 10(-5)) in 1195 men. We also replicated association with a recently reported non-coding region on chromosome 20 and found that its association with AGA was less strong and independent of that of AR. Our results will help focus future efforts to further define AGA genetic risk.
authors.affiliation: Department of Physiology, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Joanna E
authors.initials: JE
authors.lastname: Cobb
authors.forename: Sophie G
authors.initials: SG
authors.lastname: Zaloumis
authors.forename: Katrina J
authors.initials: KJ
authors.lastname: Scurrah
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Harrap
authors.forename: Justine A
authors.initials: JA
authors.lastname: Ellis
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000505:Alopecia / Q000175:diagnosis / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D004843:Epistasis, Genetic / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D050172:Genes, X-Linked / Q000235:genetics; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics*; D053340:Xedar Receptor / Q000235:genetics; D055815:Young Adult
chemical_list: C506011:EDA2R protein, human; D011944:Receptors, Androgen; D053340:Xedar Receptor