Abstract
Alopecia areata is an immune-mediated disorder, occurring with the highest observed frequency in the rare recessive autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome caused by mutations of the autoimmune regulator (AIRE) gene on chromosome 21q22.3. We have previously detected association between alopecia areata and a single nucleotide polymorphism (SNP) in the AIRE gene in patients without APECED, and we now report the findings of an extended examination of the association of alopecia areata with haplotype analysis including six SNPs in the AIRE gene: C-103T, C4144G, T5238C, G6528A, T7215C and T11787C. In Caucasian groups of 295 patients and 363 controls, we found strong association between the AIRE 7215C allele and AA [P = 3.8 x 10(-8), OR (95% CI): 2.69 (1.8-4.0)]. The previously reported association between AA and the AIRE 4144G allele was no longer significant on correction for multiple testing. The AIRE haplotypes CCTGCT and CGTGCC showed a highly significant association with AA [P = 6.05 x 10(-6), 9.47 (2.91-30.8) and P = 0.001, 3.51 (1.55-7.95), respectively]. To select the haplotypes most informative for analysis, we tagged the polymorphisms using SNPTag software. Employing AIRE C-103T, G6...Continue Reading
References
Jan 1, 1995·The Journal of Investigative Dermatology·D J TobinJ C Bystryn
May 1, 1995·The Journal of Investigative Dermatology·J P SundbergL E King
Jul 1, 1995·Mayo Clinic Proceedings·K H SafaviL J Melton
Apr 1, 1994·The British Journal of Dermatology·J G Zhang, R F Oliver
Aug 1, 1996·The British Journal of Dermatology·K J McElweeR F Oliver
Nov 15, 1996·Cell·T C Reeder, D K Hawley
May 18, 1999·Journal of Molecular Biology·D H MathewsD H Turner
May 3, 2000·Genes & Genetic Systems·Y ChenW Stephan
May 9, 2000·Human Heredity·J H ZhaoP C Sham
Aug 5, 2000·The Journal of Immunology : Official Journal of the American Association of Immunologists·S ZuklysG A Holländer
Jun 9, 2001·Clinics in Dermatology·A J McDonagh, A G Messenger
Oct 30, 2001·Current Opinion in Genetics & Development·H Akashi
Feb 21, 2002·Human Molecular Genetics·Chris RamseyLeena Peltonen
Feb 22, 2002·The Journal of Biological Chemistry·Mikhail Kashlev, Natalia Komissarova
Jun 28, 2002·The Journal of Biological Chemistry·Andrea UjváriDonal S Luse
Aug 23, 2002·Clinical and Experimental Dermatology·A J G McDonagh, R Tazi-Ahnini
Jan 23, 2003·Bioinformatics·Xiayi Ke, Lon R Cardon
Jan 25, 2003·Tissue Antigens·R Tazi-AhniniA G Messenger
Jan 30, 2003·Human Molecular Genetics·Jubao DuanPablo V Gejman
Feb 18, 2003·Human Genetics·R Tazi-AhniniA J G McDonagh
Jun 26, 2003·Nucleic Acids Research·Michael Zuker
Jun 26, 2003·Nucleic Acids Research·Ramu ChennaJulie D Thompson
Aug 7, 2004·Bioinformatics·J C BarrettM J Daly
Aug 31, 2004·Human Molecular Genetics·Francesca CaponRichard C Trembath
Jan 7, 2006·Human Heredity·Joanna Polanska, Marek Kimmel
Jun 16, 2006·Tissue Antigens·J PforrR C Betz
Dec 23, 2006·Science·Chava Kimchi-SarfatyMichael M Gottesman
Citations
Jun 9, 2009·Current Opinion in Pediatrics·Liborka Kos, Joseph Conlon
Dec 3, 2013·Journal of Clinical Immunology·Sima HosseinverdiNima Rezaei
Mar 15, 2016·Autoimmunity Reviews·Amos GilharRalf Paus
Apr 21, 2012·International Journal of Dermatology·Cantú-Salinas CristinaOcampo-Candiani Jorge
Aug 21, 2013·Experimental Dermatology·K J McElweeR Paus
Sep 23, 2014·Blood·Cindy Eunhee LeeMatthew C Cook
Sep 18, 2016·Clinics in Dermatology·Oliverio Welsh
Jun 9, 2016·Human Immunology·Roger ColobranRicardo Pujol-Borrell
Aug 10, 2016·Current Opinion in Immunology·Øyvind BruserudEystein S Husebye
May 16, 2015·PloS One·Thomas R J LovewellRachid Tazi-Ahnini
Mar 7, 2017·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Xu ZhangHai-Feng Li
May 24, 2018·The British Journal of Dermatology·F RajabiN Rezaei
Dec 19, 2018·International Journal of Environmental Research and Public Health·Fatma N HamedRachid Tazi-Ahnini
Oct 28, 2017·Scientific Reports·Bálint BércziZoltán Gyöngyi
Oct 12, 2019·Immunological Investigations·Eman A ToraihManal S Fawzy
Jul 19, 2020·Experimental Dermatology·Marta BertoliniRalf Paus
May 31, 2018·Human Antibodies·Hamideh MoravvejReza Akbarzadeh
May 14, 2020·Immunologic Research·Nermeen Hassan A MoneimMai Mohamed Abdelnaby
Jul 23, 2009·Current Opinion in Pediatrics