Autoimmune-associated HLA-B8-DR3 haplotypes in Asian Indians are unique in C4 complement gene copy numbers and HSP-2 1267A/G

Tumor necrosis factor–associated susceptibility to type 1 diabetes is caused by linkage disequilibrium with HLA-DR3 haplotypes

“…Our previous studies have demonstrated that autoimmune diseases such as celiac disease [62] and T1D [27] in the North Indian population are strongly associated with multiple HLA-DR3-DQ2 haplotypes and that these haplotypes are distinctly different from the classical Caucasian A1-B8 -DR3-DQ2 (AH8.1) haplotype at multiple loci [19,20,63]. The Indian autoimmune-favoring haplotypes include B8 -DR3 (AH8.2, AH8.1v, and others), B50 -DR3 (AH50.2), and B58 -DR3 (AH58.1), each with a distinct central MHC complement component of C4A and C4B [20] and factor B [21].…”

“…The Indian autoimmune-favoring haplotypes include B8 -DR3 (AH8.2, AH8.1v, and others), B50 -DR3 (AH50.2), and B58 -DR3 (AH58.1), each with a distinct central MHC complement component of C4A and C4B [20] and factor B [21]. …”

“…In the North Indian population, although a strong association of T1D with DR3-carrying haplotypes has been established [18 -22], the role of DR4 is not that remarkable, possibly because of the dominant protective effect of DRB1*04:03 or -*04:04, which are more prevalent in this population, rather than the positively associated DRB1*04:01 or -*04:05 alleles [23]. Further, 3 groups of HLA-DR3 ϩ haplotypes have been identified as being associated with type 1 diabetes in this population compared with mainly AH8.1 (HLA-A1-B8 -DR3) or the B18 -DR3 haplotypes in Caucasians [19,20]. These haplotypes include HLA-B8 -DR3 (ancestral haplotype AH8.2 and others) [22], HLA-B50 -DR3 (AH50.2), and HLA-B58 -DR3 (AH58.1).…”

Genetic determinants of HIV‐1 infection and progression to AIDS: immune response genes

“…It is known that healthy people carrying this haplotype are immunologically hyper‐responsive and have a significantly higher risk of developing autoimmune diseases. This haplotype is absent in the Indian population and is replaced by a totally different haplotype, designated as an AH8.1v where v refers to a ‘variant form’(43). Another related haplotype that occurs more commonly in this population is referred to as ancestral haplotype AH8.2 that is represented by A26‐B8‐DR3 with several genomic level differences from AH8.1 (43).…”

“…This haplotype is absent in the Indian population and is replaced by a totally different haplotype, designated as an AH8.1v where v refers to a ‘variant form’(43). Another related haplotype that occurs more commonly in this population is referred to as ancestral haplotype AH8.2 that is represented by A26‐B8‐DR3 with several genomic level differences from AH8.1 (43). In addition, the Indian population is characterized by several other B8‐DR3 haplotypes, which are unique and autoimmunogenic.…”