PMID- 14700594 OWN - NLM STAT- MEDLINE DCOM- 20040909 LR - 20190906 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 65 IP - 1 DP - 2004 Jan TI - HLA-G is associated with pemphigus vulgaris in Jewish patients. PG - 39-46 AB - Pemphigus is a group of life-threatening autoimmune blistering diseases of the skin and mucous membranes. The etiology and pathogenesis of this destructive autoimmune process remains unknown, but significant association with human leukocyte antigen (HLA) factors have been described in pemphigus vulgaris (PV) patient cohorts worldwide. We have recently analyzed DNA samples obtained from pemphigus patients and matched controls with a set of microsatellite markers, and found that markers mapped to HLA class I region are significantly associated with the disease. In order to narrow the region that is associated with the disease single nucleotide polymorphism (SNP) technology was used. In this study, a set of 26 SNP markers, which span a chromosomal region of about 600,000 bp, were used to screen DNA samples of the patients and their matched controls. Of the 26 SNPs, four markers were found informative, all mapped to HLA-G. Typing patients and controls for HLA-G polymorphism revealed significant differences in the exon 8 deletion/insertion variant. The latter is probably associated with the efficiency of transcription of this gene. Taken together, the results suggest that HLA-G is associated with PV in Jewish patients. FAU - Gazit, Ephraim AU - Gazit E AD - Tissue Typing Laboratory, Sheba Medical Center, Tel-Hashomer, Israel. egazit@post.tau.ac.il FAU - Slomov, Yelena AU - Slomov Y FAU - Goldberg, Ilan AU - Goldberg I FAU - Brenner, Sarah AU - Brenner S FAU - Loewenthal, Ron AU - Loewenthal R LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (Genetic Markers) RN - 0 (HLA Antigens) RN - 0 (HLA-A Antigens) RN - 0 (HLA-B Antigens) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) RN - 0 (HLA-G Antigens) RN - 0 (Histocompatibility Antigens Class I) SB - IM MH - Alleles MH - Case-Control Studies MH - Exons/genetics MH - Gene Frequency MH - Genetic Markers MH - Genetic Predisposition to Disease MH - HLA Antigens/*genetics MH - HLA-A Antigens/genetics MH - HLA-B Antigens/genetics MH - HLA-DR Antigens/genetics MH - HLA-DRB1 Chains MH - HLA-G Antigens MH - Histocompatibility Antigens Class I/*genetics MH - Humans MH - Jews/*genetics MH - Microsatellite Repeats MH - Mutagenesis, Insertional MH - Pemphigus/ethnology/*genetics MH - Polymorphism, Single Nucleotide MH - Sequence Deletion EDAT- 2004/01/01 05:00 MHDA- 2004/09/10 05:00 CRDT- 2004/01/01 05:00 PHST- 2004/01/01 05:00 [pubmed] PHST- 2004/09/10 05:00 [medline] PHST- 2004/01/01 05:00 [entrez] AID - S0198885903006189 [pii] AID - 10.1016/j.humimm.2003.09.019 [doi] PST - ppublish SO - Hum Immunol. 2004 Jan;65(1):39-46. doi: 10.1016/j.humimm.2003.09.019.