Genomewide scan for linkage reveals evidence of several susceptibility loci for alopecia areata

American Journal of Human Genetics

Volumn 80, Issue 2, 2007, Pages 316-328

  Martinez Mir, Amalia ^a,l   Zlotogorski, Abraham ^c   Gordon, Derek ^d   Petukhova, Lynn ^a   Mo, Jianhong ^a   Gilliam, T Conrad ^e   Londono, Douglas ^f   Haynes, Chad ^b   Ott, Jurg ^b   Hordinsky, Maria ^g   Nanova, Krassimira ^c   Norris, David ^h   Price, Vera ⁱ   Duvic, Madeleine ^j   Christiano, Angela M ^a,k  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b ROCKEFELLER UNIVERSITY   (United States)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d RUTGERS UNIVERSITY   (United States)

^e UNIVERSITY OF CHICAGO   (United States)

^f CASE WESTERN RESERVE UNIVERSITY   (United States)

^g UNIVERSITY OF MINNESOTA   (United States)

^h UNIVERSITY OF COLORADO   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^k College of Physicians and Surgeons ^*  (United States)

^l UNIVERSITY OF SEVILLE   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LEUKOCYTE ANTIGEN;

ALOPECIA AREATA; ARTICLE; AUTOIMMUNE DISEASE; C3H MOUSE; CHROMOSOME 10; CHROMOSOME 16; CHROMOSOME 18; CHROMOSOME 6P; CHROMOSOME 6Q; CONTROLLED STUDY; DISEASE SEVERITY; GENE; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOME ANALYSIS; HAIR DISEASE; HAIR FOLLICLE; HAIR LOSS; HAPLOTYPE; HUMAN; ISRAEL; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; PRIORITY JOURNAL; PSORIASIS; SIBLING; SKIN DISEASE; STATISTICAL ANALYSIS; UNITED STATES;

EID: 33846623330     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/511442     Document Type: Article

References (91)

1. Gilhar A, Kalish RS (2006) Alopecia areata: a tissue specific autoimmune disease of the hair follicle. Autoimmun Rev 5: 64-69
2. Green J, Sinclair RD (2000) Genetics of alopecia areata. Australas J Dermatol 41:213-218
3. McDonagh AJ, Tazi-Ahnini R (2002) Epidemiology and genetics of alopecia areata. Clin Exp Dermatol 27:405-409
4. Bahmer FA (2002) The phenomen of sudden graying of the hair in the poem "Die Fusse im Feuer" by Conrad Ferdinand Meyer [in German]. Hautarzt 53:492-494
5. Barlag K, Ruzicka T (1995) Sudden graying or whitening of the scalp hair [in German]. Dtsch Med Wochenschr 120:158-159
6. Goldenhersh MA (1992) Rapid whitening of the hair first reported in the Talmud: possible mechanisms of this intriguing phenomenon. Am J Dermatopathol 14:367-368
7. Plinck EP, Peereboom-Wynia JD, Vuzevski VD, Westerhof W, Stolz E (1993) Turning white overnight, is it possible? [in Dutch]. Ned Tijdschr Geneeskd 137:1207-1210
8. Cash TF (2001) The psychology of hair loss and its implications for patient care. Clin Dermatol 19:161-166
9. Gulec AT, Tanriverdi N, Duru C, Saray Y, Akcali C (2004) The role of psychological factors in alopecia areata and the impact of the disease on the quality of life. Int J Dermatol 43:352-356
10. Maffei C, Fossati A, Rinaldi F, Riva E (1994) Personality disorders and psychopathologic symptoms in patients with androgenetic alopecia. Arch Dermatol 130:868-872
11. Khoury EL, Price VH, Greenspan JS (1988) HLA-DR expression by hair follicle keratinocytes in alopecia areata: evidence that it is secondary to the lymphoid infiltration. J Invest Dermatol 90:193-200
12. Welsh EA, Clark HH, Epstein SZ, Reveille JD, Duvic M (1994) Human leukocyte antigen-DQB1*03 alleles are associated with alopecia areata. J Invest Dermatol 103:758-763
13. Sundberg JP, Oliver RF, McElwee KJ, King LE Jr (1995) Alopecia areata in humans and other mammalian species. J Invest Dermatol 104:32S-33S
14. Tobin DJ, Hann SK, Song MS, Bystryn JC (1997) Hair follicle structures targeted by antibodies in patients with alopecia areata. Arch Dermatol 133:57-61
15. Tobin DJ, Sundberg JP, King LE Jr, Boggess D, Bystryn JC (1997) Autoantibodies to hair follicles in C3H/HeJ mice with alopecia areata-like hair loss. J Invest Dermatol 109:329-333
16. Gilhar A, Ullmann Y, Berkutzki T, Assy B, Kalish RS (1998) Autoimmune hair loss (alopecia areata) transferred by T lymphocytes to human scalp explants on SCID mice. J Clin Invest 101:62-67
17. Sawaya ME, Hordinsky MK (1992) Advances in alopecia areata and androgenetic alopecia. Adv Dermatol 7:211-226
18. Schwartz RA, Janniger CK (1997) Alopecia areata. Cutis 59: 238-241
19. Jackow C, Puffer N, Hordinsky M, Nelson J, Tarrand J, Duvic M (1998) Alopecia areata and cytomegalovirus infection in twins: genes versus environment? J Am Acad Dermatol 38: 418-425
20. van der Steen P, Traupe H, Happle R, Boezeman J, Strater R, Hamm H (1992) The genetic risk for alopecia areata in first degree relatives of severely affected patients: an estimate. Acta Derm Venereol 72:373-375
21. Morling N, Frentz G, Fugger L, Georgsen J, Jakobsen B, Odum N, Svejgaard A (1991) DNA polymorphism of HLA class II genes in alopecia areata. Dis Markers 9:35-42
22. de Andrade M, Jackow CM, Dahm N, Hordinsky M, Reveille JD, Duvic M (1999) Alopecia areata in families: association with the HLA locus. J Investig Dermatol Symp Proc 4:220-223
23. Barahmani N, de Andrade M, Slusser JP, Zhang Q, Duvic M (2006) Major histocompatibility complex class I chain-related gene A polymorphisms and extended haplotypes are associated with familial alopecia areata. J Invest Dermatol 126: 74-78
24. Kemp EH, McDonagh AJ, Wengraf DA, Messenger AG, Gawkrodger DJ, Cork MJ, Tazi-Ahnini R (2006) The non-synonymous C1858T substitution in the PTPN22 gene is associated with susceptibility to the severe forms of alopecia areata. Hum Immunol 67:535-539
25. Gilhar A, Shalaginov R, Assy B, Serafimovich S, Kalish RS (1999) Alopecia areata is a T-lymphocyte mediated autoimmune disease: lesional human T-lymphocytes transfer alopecia areata to human skin grafts on SCID mice. J Investig Dermatol Symp Proc 4:207-210
26. Tarlow JK, Clay FE, Cork MJ, Blakemore AI, McDonagh AJ, Messenger AG, Duff GW (1994) Severity of alopecia areata is associated with a polymorphism in the interleukin-1 receptor antagonist gene. J Invest Dermatol 103:387-390
27. Barahmani N, de Andrade M, Slusser J, Zhang Q, Duvic M (2002) Interleukin-1 receptor antagonist allele 2 and familial alopecia areata. J Invest Dermatol 118:335-337
28. Tazi-Ahnini R, Cox A, McDonagh AJ, Nicklin MJ, di Giovine FS, Timms JM, Messenger AG, Dimitropoulou P, Duff GW, Cork MJ (2002) Genetic analysis of the interleukin-1 receptor antagonist and its homologue IL-1L1 in alopecia areata: strong severity association and possible gene interaction. Eur J Immunogenet 29:25-30
29. Du Vivier A, Munro DD (1975) Alopecia areata, autoimmunity, and Down's syndrome. Br Med J 1:191-192
30. Tazi-Ahnini R, di Giovine FS, McDonagh AJ, Messenger AG, Amadou C, Cox A, Duff GW, Cork MJ (2000) Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region. Hum Genet 106:639-645
31. Betterle C, Greggio NA, Volpato M (1998) Clinical review 93: autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 83:1049-1055
32. Zlotogorski A, Weinrauch L, Brautbar C (1990) Familial alopecia areata: no linkage with HLA. Tissue Antigens 36:40-41
33. Sundberg JP, Silva KA, Li R, Cox GA, King LE (2004) Adult-onset alopecia areata is a complex polygenic trait in the C3H/HeJ mouse model. J Invest Dermatol 123:294-297
34. Aita VM, Liu J, Knowles JA, Terwilliger JD, Baltazar R, Grunn A, Loth JE, Kanyas K, Lerer B, Endicott J, et al (1999) A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus. Am J Hum Genet 64:210-217
35. Liu J, Juo SH, Holopainen P, Terwilliger J, Tong X, Grunn A, Brito M, Green P, Mustalahti K, Maki M, et al (2002) Genomewide linkage analysis of celiac disease in Finnish families. Am J Hum Genet 70:51-59
36. Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, Lord C, Iversen P, Hoh J, Ott J, et al (2001) A genomewide screen for autism susceptibility loci. Am J Hum Genet 69:327-340
37. Magnuson VL, Ally DS, Nylund SJ, Karanjawala ZE, Rayman JB, Knapp JI, Lowe AL, Ghosh S, Collins FS (1996) Substrate nucleotide-determined non-templated addition of adenine by Taq DNA polymerase: implications for PCR-based genotyping and cloning. Biotechniques 21:700-709
38. Adams P (1994) LABMAN and LINKMAN: a data management system specifically designed for genome searches of complex diseases. Genet Epidemiol 11:87-98
39. O'Connell JR, Weeks DE (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266
40. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE (2005) Mega2: data-handling for facilitating genetic linkage and association analyses. Bioinformatics 21: 2556-2557
41. Fjalldal JB, Sigurdsson J, Benediktsson K, Ellingssen LM (2001) Automated genotyping: combining neural networks and decision trees to perform robust allele calling. Proc Int Joint Conf Neural Netw A1-A6
42. Palsson B, Palsson F, Perlin M, Gudbjartsson H, Stefansson K, Gulcher J (1999) Using quality measures to facilitate allele calling in high-throughput genotyping. Genome Res 9:1002-1012
43. Smith CA (1963) Testing for heterogeneity of recombination fraction values in human genetics. Ann Hum Genet 27:175-182
44. Ott J (1999) Analysis of human genetic linkage. The Johns Hopkins University Press, Baltimore, pp 225-226
45. Terwilliger JD, Ott J (1994) Handbook of human genetic linkage. The Johns Hopkins University Press, Baltimore, pp 227-232
46. Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
47. Terwilliger JD (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56:777-787
48. Documentation for ANALYZE program (http://bioweb. pasteur.fr/docs/doc- gensoft/analyze/analyze.doc)
49. Blackwelder WC, Elston RC (1985) A comparison of sib-pair linkage tests for disease susceptibility loci. Genet Epidemiol 2:85-97
50. Suarez BK, Van Eerdewegh P (1984) A comparison of three affected-sib-pair scoring methods to detect HLA-linked disease susceptibility genes. Am J Med Genet 18:135-146
51. Martinez-Mir A, Zlotogorski A, Ott J, Gordon D, Christiano AM (2003) Genetic linkage studies in alopecia areata. J Investig Dermatol Symp Proc 8:199-203
52. Elston RC (1989) Man bites dog? The validity of maximizing lod scores to determine mode of inheritance. Am J Med Genet 34:487-488
53. Hodge SE, Elston RC (1994) Lods, wrods, and mods: the interpretation of lod scores calculated under different models. Genet Epidemiol 11:329-342
54. Abreu PC, Greenberg DA, Hodge SE (1999) Direct power comparisons between simple LOD scores and NPL scores for linkage analysis in complex diseases. Am J Hum Genet 65:847-857
55. Finch SJ, Chen CH, Gordon D, Mendell NR (2001) A study comparing precision of the maximum multipoint heterogeneity LOD statistic to three model-free multipoint linkage methods. Genet Epidemiol 21:315-325
56. Gordon D, Hoh J, Finch SJ, Levenstien MA, Edington J, Li W, Majewski J, Ott J (2001) Two approaches for consolidating results from genome scans of complex traits: selection methods and scan statistics. Genet Epidemiol Suppl 1 21:S396-S402
57. Kong A, Cox NJ (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179-1188
58. Falk CT, Rubinstein P (1987) Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 51:227-233
59. Ewens WJ, Spielman RS (2005) What is the significance of a significant TDT? Hum Hered 60:206-210
60. Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247
61. Hodge SE, Abreu PC, Greenberg DA (1997) Magnitude of type I error when single-locus linkage analysis is maximized over models: a simulation study. Am J Hum Genet 60:217-227
62. Hodge SE (2001) Model-free vs model-based linkage analysis: a false dichotomy? Am J Med Genet 105:62-64
63. Kruglyak L, Daly MJ (1998) Linkage thresholds for two-stage genome scans. Am J Hum Genet 62:994-997
64. Altmuller J, Palmer LJ, Fischer G, Scherb H, Wjst M (2001) Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet 69:936-950
65. Page GP, George V, Go RC, Page PZ, Allison DB (2003) "Are we there yet?" Deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits. Am J Hum Genet 73:711-719
66. Mikelsaar RV, Muru K, Kulla A, Suvari A (2002) Psoriasis vulgaris in a male with partial deletion 18p. Am J Med Genet 108:252-253
67. Bartlett CW, Goedken R, Vieland VJ (2005) Effects of updating linkage evidence across subsets of data: reanalysis of the autism genetic resource exchange data set. Am J Hum Genet 76:688-695
68. Brant SR, Shugart YY (2004) Inflammatory bowel disease gene hunting by linkage analysis: rationale, methodology, and present status of the field. Inflamm Bowel Dis 10:300-311
69. Gordon D, Haynes C, Finch SJ, Brown AM (2006) Increase in linkage information by stratification of pedigree data into gold-standard and standard diagnoses: application to the NIMH Alzheimer Disease Genetics Initiative Dataset. Hum Hered 61:97-103
70. Leal SM, Ott J (2000) Effects of stratification in the analysis of affected-sib-pair data: benefits and costs. Am J Hum Genet 66:567-575
71. Bhalerao J, Bowcock AM (1998) The genetics of psoriasis: a complex disorder of the skin and immune system. Hum Mol Genet 7:1537-1545
72. Bradley M, Soderhall C, Luthman H, Wahlgren CF, Kockum I, Nordenskjold M (2002) Susceptibility loci for atopic dermatitis on chromosomes 3, 13, 15, 17, and 18 in a Swedish population. Hum Mol Genet 11:1539-1548
73. Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, Heffernan M, Daw JA, Robarge J, Ott J, et al (2003) A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 35:349-356
74. Helms C, Saccone NL, Cao L, Daw JA, Cao K, Hsu TM, Taillon-Miller P, Duan S, Gordon D, Pierce B, et al (2005) Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR. Hum Genet 118:466-476
75. Lee YA, Wahn U, Kehrt R, Tarani L, Businco L, Gustafsson D, Andersson F, Oranje AP, Wolkertstorfer A, v Berg A, et al (2000) A major susceptibility locus for atopic dermatitis maps to chromosome 3q21. Nat Genet 26:470-473
76. Soderhall C, Bradley M, Kockum I, Wahlgren CF, Luthman H, Nordenskjold M (2001) Linkage and association to candidate regions in Swedish atopic dermatitis families. Hum Genet 109:129-135
77. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Aimer S, Tysk C, O'Morain CA, Gassull M, et al (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411:599-603
78. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, et al (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411:603-606
79. Edwards AO, Ritter III R, Abel KJ, Manning A, Panhuysen C, Farrer LA (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308:421-424
80. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gailins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, et al (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419-421
81. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, et al (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385-389
82. Wiggs JL (2006) Complement factor H and macular degeneration: the genome yields an important clue. Arch Ophthalmol 124:577-578
83. Hugot JP, Laurent-Puig P, Gower-Rousseau C, Olson JM, Lee JC, Beaugerie L, Naom I, Dupas JL, Van Gossum A, Orholm M, et al (1996) Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature 379:821-823
84. Brzustowicz LM, Hodgkinson KA, Chow EW, Honer WG, Bassett AS (2000) Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22. Science 288:678-682
85. Gordon D, Simonic I, Ott J (2000) Significant evidence for linkage disequilibrium over a 5-cM region among Afrikaners. Genomics 66:87-92
86. Ostrer H (2001) A genetic profile of contemporary Jewish populations. Nat Rev Genet 2:891-898
87. Wise LH, Lewis CM (1999) A method for meta-analysis of genome searches: application to simulated data. Genet Epidemiol Suppl 1 17:S767-S771
88. Nair RP, Henseler T, Jenisch S, Stuart P, Bichakjian CK, Lenk W, Westphal E, Guo SW, Christophers E, Voorhees JJ, et al (1997) Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan. Hum Mol Genet 6:1349-1356
89. Asumalahti K, Laitinen T, Lahermo P, Suomela S, Itkonen-Vatjus R, Jansen C, Karvonen J, Karvonen SL, Reunala T, Snellman E, et al (2003) Psoriasis susceptibility locus on 18p revealed by genome scan in Finnish families not associated with PSORS1. J Invest Dermatol 121:735-740
90. Veal CD, Clough RL, Barber RC, Mason S, Tillman D, Ferry B, Jones AB, Ameen M, Balendran N, Powis SH, et al (2001) Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci. J Med Genet 38:7-13
91. Baumer A, Belli S, Trueb RM, Schinzel A (2000) An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. Eur J Hum Genet 8: 443-448