HLA-E*0103X is associated with susceptibility to Pemphigus vulgaris.
Non-classical human leucocyte antigen-E (HLA-E) mediates natural killer and CD8+ T-cell activity, suggesting a role in the regulation of autoimmunity. HLA-E*0103X/*0103X has been associated with Behcet's disease and HLA-E *0101/*0103X with childhood onset diabetes. We investigated HLA-E allele status in 52 Caucasian and Ashkenazi Jewish Pemphigus vulgaris (PV) patients and 51 healthy controls by restriction fragment length polymorphism-polymerase chain reaction and amplification refractory mutation system. Associations were determined via chi-square test, Fisher's exact test and logistical regression analysis. HLA-E outcomes included presumed homozygous *0101/*0101 or *0103X/*0103X genotype status or *0101/*0103X heterozygous status. PV did not significantly associate with either *0101/*0101 or *0101/*0103X genotypes. HLA-E*0103X/*0103X (presumed homozygote) is significantly increased in patients with PV versus controls (P = 0.0146, OR = 3.730, 95%CI = 1.241-11.213). Our data provide the first evidence that HLA-E*0103X is a marker for genetic risk in PV.
Department of Dermatology, University at Buffalo and Roswell Park Cancer Institute, State University of New York at Buffalo, Buffalo, NY 14203, USA.
Dhaval G
DG
Bhanusali
Amit
A
Sachdev
Abootaleb
A
Rahmanian
John A
JA
Gerlach
Joo Chaun
JC
Tong
Kristina
K
Seiffert-Sinha
Animesh A
AA
Sinha
D000328:Adult; D000368:Aged; D000483:Alleles; D018414:CD8-Positive T-Lymphocytes / Q000378:metabolism; D016022:Case-Control Studies; D003062:Codon; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010392:Pemphigus / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D000097625:HLA-E Antigens
D003062:Codon; D015395:Histocompatibility Antigens Class I; D000097625:HLA-E Antigens