Susceptibility variants for male-pattern baldness on chromosome 20p11

被引:95
作者
Hillmer, Axel M. [1 ]
Brockschmidt, Felix F. [1 ]
Hanneken, Sandra [2 ]
Eigelshoven, Sibylle [2 ]
Steffens, Michael [3 ]
Flaquer, Antonia [3 ]
Herms, Stefan [1 ]
Becker, Tim [3 ]
Kortuem, Anne-Katrin [2 ]
Nyholt, Dale R. [4 ]
Zhao, Zhen Zhen [4 ]
Montgomery, Grant W. [4 ]
Martin, Nicholas G. [4 ]
Muehleisen, Thomas W. [1 ]
Alblas, Margrieta A. [1 ]
Moebus, Susanne [5 ]
Joeckel, Karl-Heinz [5 ]
Broecker-Preuss, Martina [6 ]
Erbel, Raimund [7 ]
Reinartz, Roman [1 ]
Betz, Regina C. [8 ]
Cichon, Sven [1 ,8 ]
Propping, Peter [8 ]
Baur, Max P. [3 ]
Wienker, Thomas F. [3 ]
Kruse, Roland [2 ]
Noethen, Markus M. [1 ,8 ]
机构
[1] Univ Bonn, Life & Brain Ctr, Dept Genom, D-53127 Bonn, Germany
[2] Univ Dusseldorf, Dept Dermatol, D-40225 Dusseldorf, Germany
[3] Univ Bonn, Inst Med Biometry Informat & Epidemiol, D-53105 Bonn, Germany
[4] Queensland Inst Med Res, Herston, Qld 4006, Australia
[5] Univ Duisburg Essen, Inst Med Bioinformat Biometry & Epidemiol, D-45122 Essen, Germany
[6] Univ Duisburg Essen, Univ Hosp Essen, Cent Lab Unit Res & Educ, Clin Endocrinol, D-45122 Essen, Germany
[7] Univ Duisburg Essen, W German Heart Ctr Essen, Clin Cardiol, D-45122 Essen, Germany
[8] Univ Bonn, Inst Human Genet, D-53111 Bonn, Germany
关键词
D O I
10.1038/ng.228
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We carried out a genome-wide association study in 296 individuals with male-pattern baldness (androgenetic alopecia) and 347 controls. We then investigated the 30 best SNPs in an independent replication sample and found highly significant association for five SNPs on chromosome 20p11 (rs2180439 combined P = 2.7 x 10(-15)). No interaction was detected with the X-chromosomal androgen receptor locus, suggesting that the 20p11 locus has a role in a yet-to-be-identified androgen-independent pathway.
引用
收藏
页码:1279 / 1281
页数:3
相关论文
共 15 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]   Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].
Burton, Paul R. ;
Clayton, David G. ;
Cardon, Lon R. ;
Craddock, Nick ;
Deloukas, Panos ;
Duncanson, Audrey ;
Kwiatkowski, Dominic P. ;
McCarthy, Mark I. ;
Ouwehand, Willem H. ;
Samani, Nilesh J. ;
Todd, John A. ;
Donnelly, Peter ;
Barrett, Jeffrey C. ;
Davison, Dan ;
Easton, Doug ;
Evans, David ;
Leung, Hin-Tak ;
Marchini, Jonathan L. ;
Morris, Andrew P. ;
Spencer, Chris C. A. ;
Tobin, Martin D. ;
Attwood, Antony P. ;
Boorman, James P. ;
Cant, Barbara ;
Everson, Ursula ;
Hussey, Judith M. ;
Jolley, Jennifer D. ;
Knight, Alexandra S. ;
Koch, Kerstin ;
Meech, Elizabeth ;
Nutland, Sarah ;
Prowse, Christopher V. ;
Stevens, Helen E. ;
Taylor, Niall C. ;
Walters, Graham R. ;
Walker, Neil M. ;
Watkins, Nicholas A. ;
Winzer, Thilo ;
Jones, Richard W. ;
McArdle, Wendy L. ;
Ring, Susan M. ;
Strachan, David P. ;
Pembrey, Marcus ;
Breen, Gerome ;
St Clair, David ;
Caesar, Sian ;
Gordon-Smith, Katherine ;
Jones, Lisa ;
Fraser, Christine ;
Green, Elain K. .
NATURE, 2007, 447 (7145) :661-678
[3]   A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data:: Application to HLA in type 1 diabetes [J].
Cordell, HJ ;
Clayton, DG .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (01) :124-141
[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]   PATTERNED LOSS OF HAIR IN MAN - TYPES AND INCIDENCE [J].
HAMILTON, JB .
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1951, 53 (03) :708-728
[7]   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
[8]   Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26 [J].
Hillmer, Axel M. ;
Flaquer, Antonia ;
Hanneken, Sandra ;
Eigelshoven, Sibylle ;
Korttuem, Anne-Katrin ;
Brockschmidt, Felix F. ;
Golla, Astrid ;
Metzen, Christine ;
Thiele, Holger ;
Kolberg, Susanne ;
Reinartz, Roman ;
Betz, Regina C. ;
Ruzicka, Thomas ;
Hennies, Hans Christian ;
Kruse, Roland ;
Noethen, Markus M. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (03) :737-743
[9]   Long-range downstream enhancers are essential for Pax6 expression [J].
Kleinjan, Dirk A. ;
Seawright, Anne ;
Mella, Sebastien ;
Carr, Catherine B. ;
Tyas, David A. ;
Simpson, T. Ian ;
Mason, John O. ;
Price, David J. ;
van Heyningen, Veronica .
DEVELOPMENTAL BIOLOGY, 2006, 299 (02) :563-581
[10]   Male pattern baldness and coronary heart disease -: The physicians' health study [J].
Lotufo, PA ;
Chae, CU ;
Ajani, UA ;
Hennekens, CH ;
Manson, JE .
ARCHIVES OF INTERNAL MEDICINE, 2000, 160 (02) :165-171