Evaluation of DNA variants associated with androgenetic alopecia and their potential to predict male pattern baldness

PLoS ONE

Volumn 10, Issue 5, 2015, Pages

  Marcińska, Magdalena ^a   Pośpiech, Ewelina ^b   Abidi, Sarah ^c   Andersen, Jeppe Dyrberg ^d   Van Den Berge, Margreet ^e   Carracedo, Ángel ^f,g   Eduardoff, Mayra ^h   Marczakiewicz Lustig, Anna ⁱ   Morling, Niels ^d   Sijen, Titia ^e   Skowron, Małgorzata ⁱ   Söchtig, Jens ^f   Syndercombe Court, Denise ^c   Weiler, Natalie ^e   Schneider, Peter M ^j   Ballard, David ^c   Børsting, Claus ^d   Parson, Walther ^h,k   Phillips, Chris ^f   Branicki, Wojciech ^a,b  

^a INSTITUTE OF FORENSIC RESEARCH   (Poland)

^b JAGIELLONIAN UNIVERSITY   (Poland)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

^e NETHERLANDS FORENSIC INSTITUTE   (Netherlands)

^f UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^g CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^h INNSBRUCK MEDICAL UNIVERSITY   (Austria)

ⁱ JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^j UNIVERSITY OF COLOGNE   (Germany)

^k PENNSYLVANIA STATE UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE DEACETYLASE 9;

ADULT; AGE; AREA UNDER THE CURVE; ARTICLE; CHROMOSOME 1; CHROMOSOME 18; CHROMOSOME 20; CHROMOSOME 5; CHROMOSOME 7; DISEASE ASSOCIATION; DNA DETERMINATION; EBF1 GENE; EUROPEAN; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HDAC9 GENE; HUMAN; MALE; MALE TYPE ALOPECIA; MEASUREMENT ACCURACY; NORMAL HUMAN; PHENOTYPE; PREDICTION; PREVALENCE; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TARDBP GENE; X CHROMOSOME; AGED; ALOPECIA; CAUCASIAN; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED;

AGE FACTORS; AGED; ALOPECIA; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SENSITIVITY AND SPECIFICITY;

EID: 84930660595     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0127852     Document Type: Article

References (59)

1. Hamilton JB. Patterned loss of hair in man; types and incidence. Ann NY Acad Sci. 1951; 53: 708-728. PMID: 14819896
2. Nyholt DR, Gillespie NA, Heath AC, Martin NG. Genetic basis of male pattern baldness. J Invest Dermatol. 2003; 121: 1561-1564. PMID: 14675213
3. Rexbye H, Petersen I, Iachina M, Mortensen J, McGue M, Vaupel JW, et al. Hair loss among elderly men: etiology and impact on perceived age. J Gerontol A Biol Sci Med Sci. 2005; 60:1077-1082. PMID: 16127116
4. Ellis JA, Stebbing M, Harrap SB. Polymorphism of the androgen receptor gene is associated with male pattern baldness. J Invest Dermatol. 2001; 116: 452-455. PMID: 11231320
5. Levy-Nissenbaum E, Bar-Natan M, Frydman M, Pras E. Confirmation of the association between male pattern baldness and the androgen receptor gene. Eur J Dermatol. 2005; 15: 339-340. PMID: 16172040
6. Hayes VM, Severi G, Eggleton SA, Padilla EJ, Southey MC, Sutherland RL, et al. The E211 G>A androgen receptor polymorphism is associated with a decreased risk of metastatic prostate cancer and androgenetic alopecia. Cancer Epidemiol Biomarkers Prev. 2005; 14: 993-996. PMID: 15824176
7. Hillmer AM, Hanneken S, Ritzmann S, Becker T, Freudenberg J, Brockschmidt FF, et al. Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet. 2005; 77: 140-148. PMID: 15902657
8. Prodi DA, Pirastu N, Maninchedda G, Sassu A, Picciau A, Palmas MA, et al. EDA2R is associated with androgenetic alopecia. J Invest Dermatol. 2008; 128: 2268-2270. doi: 10.1038/jid.2008.60 PMID: 18385763
9. Richards JB, Yuan X, Geller F, Waterworth D, Bataille V, Glass D, et al. Male pattern baldness susceptibility locus at 20p11. Nat Genet. 2008; 40: 1282-1284. doi: 10.1038/ng.255 PMID: 18849991
10. Brockschmidt FF, Hillmer AM, Eigelshoven S, Hanneken S, Heilmann S, Barth S, et al. Fine mapping of the human AR/EDA2R locus in androgenetic alopecia. Br J Dermatol. 2010; 162: 899-903. doi: 10.1111/j.1365-2133.2010.09649.x PMID: 20199557
11. Cobb JE, Zaloumis SG, Scurrah KJ, Harrap SB, Ellis JA. Evidence for two independent functional variant for androgenetic alopecia around the androgen receptor gene. Exp Dermatol. 2010; 19: 1026-1028. doi: 10.1111/j.1600-0625.2010.01132.x PMID: 21073542
12. Li R, Brockschmidt FF, Kiefer AK, Stefansson H, Nyholt DR, Song K, et al. Six novel susceptibility loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet. 2012 May; 8(5):e1002746. doi: 10.1371/journal.pgen.1002746 PMID: 22693459
13. Liang B, Yang C, Zuo X, Li Y, Ding Y, Sheng Y, et al. Genetic variants at 20p11 confer risk to androgenetic alopecia in the chinese Han population. PLoS One. 2013; Aug 26; 8(8):e71771. doi: 10.1371/journal.pone.0071771 PMID: 23990985
14. Hillmer AM, Brockschmidt FF, Hanneken S, Eigelshoven S, Steffens M, Flaquer A, et al. Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet. 2008; 40: 1279-1281. doi: 10.1038/ng.228 PMID: 18849994
15. Brockschmidt FF, Heilmann S, Ellis JA, Eigelshoven S, Hanneken S, Herold C, et al. Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness. Br J Dermatol. 2011; 165: 1293-1302. doi: 10.1111/j.1365-2133.2011.10708.x PMID: 22032556
16. Heilmann S, Kiefer AK, Fricker N, Drichel D, Hillmer AM, Herold C, et al. Androgenetic alopecia: Identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology. J Invest Dermatol. 2013; 133: 1489-1496. doi: 10.1038/jid.2013.43 PMID: 23358095
17. Rebbeck T, Spitz M, Wu X. Assessing the function of genetic variants in candidate gene association studies. Nat Rev Genet. 2004; 5: 589-597. PMID: 15266341
18. Wray N, Goddard ME, Visscher PM. Prediction of individual genetic risk to disease from genome-wide association studies. Genome Res. 2007; 17: 1520-1528. PMID: 17785532
19. Kayser M, Schneider PM. DNA-based prediction of human externally visible characteristics in forensics: motivations, scientific challenges, and ethical considerations. Forensic Sci Int Genet. 2009; 3: 154-61. doi: 10.1016/j.fsigen.2009.01.012 PMID: 19414162
20. Liu F, van Duijn K, Vingerling JR, Hofman A, Uitterlinden AG, Janssens AC, et al. Eye color and the prediction of complex phenotypes from genotypes. Curr Biol. 2009; 19: R192-3. doi: 10.1016/j.cub.2009.01.027 PMID: 19278628
21. Branicki W, Liu F, van Duijn K, Draus-Barini J, Po piech W, Walsh S, et al. Model-based prediction of human hair color using DNA variants. Hum Genet. 2011; 129: 443-454. doi: 10.1007/s00439-010-0939-8 PMID: 21197618
22. Bocklandt S, Lin W, Sehl ME, Sánchez FJ, Sinsheimer JS, Horvath S, et al. Epigenetic predictor of age. PLoS One. 2011; 6(6):e14821. doi: 10.1371/journal.pone.0014821 PMID: 21731603
23. Weidner CI, Lin Q, Koch CM, Eisele L, Beier F, Ziegler P, et al. Aging of blood can be tracked by DNA methylation changes at just three CpG sites. Genome Biol. 2014; Feb 3; 15(2):R24. doi: 10.1186/gb-2014-15-2-r24 PMID: 24490752
24. Zbieć-Piekarska R, Spólnicka M, Kupiec T, Makowska Z?, Spas A, Parys-Proszek A, et al. Examination of DNA methylation status of the ELOVL2 marker may be useful for human age prediction in forensic science. Forensic Sci Int Genet. 2015; 14: 161-7. doi: 10.1016/j.fsigen.2014.10.002 PMID: 25450787
25. Liu F, Hendriks AE, Ralf A, Boot AM, Benyi E, Sävendahl L, et al. Common DNA variants predict tall stature in Europeans. Hum Genet. 2014; 133: 587-97. doi: 10.1007/s00439-013-1394-0 PMID: 24253421
26. Claes P, Hill H, Shriver MD. Toward DNA-based facial composites: preliminary results and validation. Forensic Sci Int Genet. 2014; 13: 208-16. doi: 10.1016/j.fsigen.2014.08.008 PMID: 25194685
27. Norwood OT. Male pattern baldness: classification and incidence. South Med J. 1975; 68: 1359-1365. PMID: 1188424
28. Hillmer A, Freudenberg J, Myles S, Herms S, Tang K, Hughes DA, et al. Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness. Hum Genet. 2009; 126: 255-264. doi: 10.1007/s00439-009-0668-z PMID: 19373488
29. Redler S, Brockschmidt FF, Tazi-Ahnini R, Drichel D, Birch MP, Dobson K, et al. Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss. Br J Dermatol. 2012; 166: 1314-1318. doi: 10.1111/j.1365-2133.2012.10877.x PMID: 22309448
30. Medland S, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, et al. Common variants in the trichohyalin gene are associated with straight hair in Europeans. Am J Hum Genet. 2009; 85: 750-755. doi: 10.1016/j.ajhg.2009.10.009 PMID: 19896111
31. Po piech E, Draus-Barini J, Kupiec T, Wojas-Pelc A, Branicki W. Gene-gene interactions contribute to eye colour variation in humans. J Hum Genet. 2011; 56: 447-455. doi: 10.1038/jhg.2011.38 PMID: 21471978
32. Kirin M, Chandra A, Charteris DG, Hayward C, Campbell S, Celap I, et al. Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment. Hum Mol Genet. 2013; 22: 3174-3185. doi: 10.1093/hmg/ddt169 PMID: 23585552
33. Ritchie MD, Hahn LW, Roodi N, Bailey LR, Dupont WD, Parl FF, et al. Multifactor dimensionality reduction reveals high-order interactions among estrogen metabolism genes in sporadic breast cancer. Am J Hum Genet. 2001; 69: 138-147. PMID: 11404819
34. Ritchie MD, Hahn LW, Moore JH. Power of multifactor dimensionality reduction for detecting gene-gene interactions in the presence of genotyping error, phenocopy, and genetic heterogeneity. Genet Epidemiol. 2003; 24: 150-157. PMID: 12548676
35. Hahn LW, Ritchie MD, Moore JH. Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics. 2003; 19: 376-382. PMID: 12584123
36. Jakulin N, Bratko A. Analyzing attribute interactions. Lect Notes Artif Intell. 2003; 2838: 229-240.
37. Walsh S, Liu F, Ballantyne KN, van Oven M, Lao O, Kayser M. IrisPlex: a sensitive DNA tool for accurate prediction of blue and brown eye colour in the absence of ancestry information. Forensic Sci Int Genet. 2011; 5: 170-180. doi: 10.1016/j.fsigen.2010.02.004 PMID: 20457092
38. Po piech E, Draus-Barini J, Kupiec T, Wojas-Pelc A, Branicki W. Prediction of eye color from genetic data using Bayesian approach. J Forensic Sci. 2012; 57: 880-886. doi: 10.1111/j.1556-4029.2012.02077.x PMID: 22372960
39. Rhodes T, Girman CJ, Savin RC, Kaufman KD, Guo S, Lilly FR, et al. Prevalence of male pattern hair loss in 18-49 year old men. Dermatol Surg. 1998; 24: 1330-1332. PMID: 9865198
40. Kuster W, Happle R. The inheritance of common baldness: two B or not two B? J Am Acad Dermatol. 1984; 11: 921-926. PMID: 6512048
41. Ellis JA, Stebbing M, Harrap SB. Genetic analysis of male pattern baldness and the 5alpha-reductase genes. J Invest Dermatol. 1998; 110: 849-853. PMID: 9620288
42. Hamilton JB. Male hormone stimulation is a prerequisite and an incitant in common baldness. Am J Anat. 1942; 71: 451-480.
43. McLean WH. Combing the genome for the root cause of baldness. Nat Genet. 2008; 40: 1270-1271. doi: 10.1038/ng1108-1270 PMID: 18957981
44. Klimentidis YC, Zhou J, Wineinger NE. Identification of allelic heterogeneity at type-2 diabetes loci and impact on prediction. PLoS One. 2014; Nov 13; 9(11):e113072. doi: 10.1371/journal.pone.0113072 PMID: 25393876
45. Griffin M, Zhou Y, Kang S, Zhang X, Mikkelsen TS, Rosen ED. B-cell Factor-1 (EBF1) Is a key regulator of metabolic and inflammatory signaling pathways in mature adipocytes. J Biol Chem. 2013; 288: 35925-35939. doi: 10.1074/jbc.M113.491936 PMID: 24174531
46. Schmidt B, Horsley V. Unraveling hair follicle-adipocyte communication. Exp Dermatol. 2012; 21: 827-830. doi: 10.1111/exd.12001 PMID: 23163647
47. Burrati E, Baralle FE. Multiple roles of TDP-43 in gene expression, splicing regulation, and human disease. Front Biosci. 2008; 13: 867-878. PMID: 17981595
48. Haberland M, Montgomery RL, Olson EN. The many roles of histone deacetylases in development and physiology: implications for disease and therapy. Nat Rev Genet. 2009; 10: 32-42. doi: 10.1038/ nrg2485 PMID: 19065135
49. Ruiz Y, Phillips C, Gomez-Tato A, Alvarez-Dios J, Casares de Cal M, Maroñas O, et al. Further development of forensic eye color predictive tests. Forensic Sci Int Genet. 2013; 7: 28-40. doi: 10.1016/j.fsigen.2012.05.009 PMID: 22709892
50. Po piech E, Wojas-Pelc A, Walsh S, Liu F, Maeda H, Ishikawa T, et al. The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction. Forensic Sci Int Genet. 2014; 11: 64-72. doi: 10.1016/j.fsigen.2014.01.012 PMID: 24681889
51. Pneuman A, Budimlija ZM, Caragine T, Prinz M, Wurmbach E. Verification of eye and skin color predictors in various populations. Leg Med. 2012; 14: 78-83. doi: 10.1016/j.legalmed.2011.12.005 PMID: 22284939
52. Hart KL, Kimura SL, Mushailov V, Budimlija ZM, Prinz M, Wurmbach E. Improved eye- and skin-color prediction based on 8 SNPs. Croat Med J. 2013; 54: 248-256. PMID: 23771755
53. Maroñas O, Phillips C, Söchtig J, Gomez-Tato A, Cruz R, Alvarez-Dios J, et al. Development of a forensic skin colour predictive test. Forensic Sci Int Genet. 2014; 13: 34-44. doi: 10.1016/j.fsigen.2014.06.017 PMID: 25082135
54. Karnik P, Shah S, Dvorkin-Wininger Y, Oshtory S, Mirmirani P. Microarray analysis of androgenetic and senescent alopecia: comparison of gene expression shows two distinct profiles. J Dermatol Sci. 2013; 72: 183-186. doi: 10.1016/j.jdermsci.2013.06.017 PMID: 23886704
55. Zubakov D, Liu F, van Zelm MC, Vermeulen J, Oostra BA, van Duijn CM, et al. Estimating human age from T-cell DNA rearrangements. Curr Biol. 2010; 20: R970-R971. doi: 10.1016/j.cub.2010.10.022 PMID: 21093786
56. Mirmirani P. Age-related hair changes in men: Mechanisms and management of alopecia and graying. Maturitas. 2015; 80: 58-62. doi: 10.1016/j.maturitas.2014.10.008 PMID: 25466305
57. Lee WS, Lee HJ. Characteristics of androgenetic alopecia in asian. Ann Dermatol. 2012; 24: 243-252. doi: 10.5021/ad.2012.24.3.243 PMID: 22879706
58. Zhuo FL, Xu W, Wang L, Wu Y, Xu ZL, Zhao JY. Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis. Clin Exp Dermatol. 2012; 37: 104-111. doi: 10.1111/j.1365-2230.2011.04186.x PMID: 21981665
59. Phillips C, Fondevila M, Lareau MV. A 34-plex autosomal SNP single base extension assay for ancestry investigations. Methods Mol Biol. 2012; 830: 109-126. doi: 10.1007/978-1-61779-461-2-8 PMID: 22139656