Single nucleotide polymorphisms in the coding region of the apolipoprotein H (beta2-glycoprotein I) gene and their correlation with the protein polymorphism, anti-beta2glycoprotein I antibodies and cardiolipin binding: description of novel haplotypes and their evolution

Annals of Human Genetics
M Ilyas KambohClareann H Bunker

Abstract

Apolipoprotein H (APOH), also known as beta2-glycoprotein I, is a major autoantigen for the production of antiphospholipid antibodies (APA) in autoimmune diseases. APA is also recognized by a cryptic epitope generated following the interaction of APOH with anionic phospholipids (PL). The prevalence of APA in the general U.S. white population is about 10%, but it ranges from 30-70% in patients with lupus and antiphospholipid syndrome. Since the structural characterization of APOH from different mammalian species is important to identify the evolutionary conserved regions that may be critical for its function, we have previously determined the chimpanzee APOH gene structure and the prevalence of APA. There are only two amino acid differences between the chimpanzee and human wild type APOH proteins. Chimpanzees have an unusually high prevalence (64%) of APA. There is a common protein polymorphism in the human APOH gene, with the occurrence of four alleles APOH*1, APOH*2, APOH*3 and APOH*4, the latter being present only in blacks. Based on its differential reactivity with an APOH monoclonal antibody, the APOH*3 allele is further divided into APOH*3(W) (present only in whites) and APOH*3(B) (present only in blacks). In this study we...Continue Reading

References

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Citations

Feb 9, 2010·Archives of Dermatological Research·Maria José Franco BrochadoAna Maria Roselino
Jan 10, 2009·The Journal of Rheumatology·Sangita SureshM Ilyas Kamboh
Jul 20, 2010·Journal of Autoimmunity·Panayiotis G Vlachoyiannopoulos, John G Routsias
Nov 11, 2008·Seminars in Arthritis and Rheumatism·Liang-Jing LuMichael H Weisman
Sep 18, 2009·Annals of the New York Academy of Sciences·Juliana M Pernambuco-ClimacoPaulo Louzada-Junior
Jan 5, 2010·Atherosclerosis·M A Crook

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