Evidence for two independent functional variants for androgenetic alopecia around the androgen receptor gene

被引:24
作者
Cobb, Joanna E. [2 ]
Zaloumis, Sophie G. [2 ]
Scurrah, Katrina J. [3 ]
Harrap, Stephen B. [2 ]
Ellis, Justine A. [1 ,2 ]
机构
[1] Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia
[2] Univ Melbourne, Dept Physiol, Melbourne, Vic, Australia
[3] Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic, Australia
关键词
androgen receptor; ectodysplasin A2 receptor; male pattern baldness; non-coding DNA; MALE-PATTERN BALDNESS; SUSCEPTIBILITY; POLYMORPHISM; ASSOCIATION; 20P11; RISK;
D O I
10.1111/j.1600-0625.2010.01132.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
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 x 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.
引用
收藏
页码:1026 / 1028
页数:3
相关论文
共 12 条
[1]   Haploview: analysis and visualization of LD and haplotype maps [J].
Barrett, JC ;
Fry, B ;
Maller, J ;
Daly, MJ .
BIOINFORMATICS, 2005, 21 (02) :263-265
[2]   Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data [J].
Dudbridge, Frank .
HUMAN HEREDITY, 2008, 66 (02) :87-98
[3]   Multiplexed discovery of sequence polymorphisms using base-specific cleavage and MALDI-TOF MS -: art. no. e38 [J].
Ehrich, M ;
Böcker, S ;
van den Boom, D .
NUCLEIC ACIDS RESEARCH, 2005, 33 (04) :1-6
[4]   Polymorphism of the androgen receptor gene is associated with male pattern baldness [J].
Ellis, JA ;
Stebbing, M ;
Harrap, SB .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 116 (03) :452-455
[5]   Baldness and the androgen receptor:: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia [J].
Ellis, Justine A. ;
Scurrah, Katrina J. ;
Cobb, Joanna E. ;
Zaloumis, Sophie G. ;
Duncan, Anna E. ;
Harrap, Stephen B. .
HUMAN GENETICS, 2007, 121 (3-4) :451-457
[6]   Familial patterns of covariation for cardiovascular risk factors in adults - The Victorian Family Heart Study [J].
Harrap, SB ;
Stebbing, M ;
Hopper, JL ;
Hoang, HN ;
Giles, GG .
AMERICAN JOURNAL OF EPIDEMIOLOGY, 2000, 152 (08) :704-715
[7]   The E211 G>A androgen receptor polymorphism is associated with a decreased risk of metastatic prostate cancer and androgenetic alopecia [J].
Hayes, VM ;
Severi, G ;
Eggleton, SA ;
Padilla, EJD ;
Southey, MC ;
Sutherland, RL ;
Hopper, JL ;
Giles, GG .
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION, 2005, 14 (04) :993-996
[8]   Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia [J].
Hillmer, AM ;
Hanneken, S ;
Ritzmann, S ;
Becker, T ;
Freudenberg, J ;
Brockschmidt, FF ;
Flaquer, A ;
Freudenberg-Hua, Y ;
Abou Jamra, R ;
Metzen, C ;
Heyn, U ;
Schweiger, N ;
Betz, RC ;
Blaumeiser, B ;
Hampe, J ;
Schreiber, S ;
Schulze, TG ;
Hennies, HC ;
Schumacher, J ;
Propping, P ;
Ruzicka, T ;
Cichon, S ;
Wienker, TF ;
Kruse, R ;
Nöthen, MM .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (01) :140-148
[9]   Susceptibility variants for male-pattern baldness on chromosome 20p11 [J].
Hillmer, Axel M. ;
Brockschmidt, Felix F. ;
Hanneken, Sandra ;
Eigelshoven, Sibylle ;
Steffens, Michael ;
Flaquer, Antonia ;
Herms, Stefan ;
Becker, Tim ;
Kortuem, Anne-Katrin ;
Nyholt, Dale R. ;
Zhao, Zhen Zhen ;
Montgomery, Grant W. ;
Martin, Nicholas G. ;
Muehleisen, Thomas W. ;
Alblas, Margrieta A. ;
Moebus, Susanne ;
Joeckel, Karl-Heinz ;
Broecker-Preuss, Martina ;
Erbel, Raimund ;
Reinartz, Roman ;
Betz, Regina C. ;
Cichon, Sven ;
Propping, Peter ;
Baur, Max P. ;
Wienker, Thomas F. ;
Kruse, Roland ;
Noethen, Markus M. .
NATURE GENETICS, 2008, 40 (11) :1279-1281
[10]  
Levy-Nissenbaum E, 2005, EUR J DERMATOL, V15, P339