RGD Reference Report - Allotyping human complement factor B in Asian Indian type 1 diabetic patients. - Rat Genome Database

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Allotyping human complement factor B in Asian Indian type 1 diabetic patients.

Authors: Kumar, N  Kaur, G  Tandon, N  Mehra, NK 
Citation: Kumar N, etal., Tissue Antigens. 2008 Dec;72(6):517-24. Epub 2008 Sep 29.
RGD ID: 2311335
Pubmed: PMID:19000152   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1399-0039.2008.01137.x   (Journal Full-text)

Human complement factor B (BF) is an essential component of the alternate complement pathway and therefore important in innate immune and autoimmune responses. The BF gene is located in the central region of major histocompatibility complex (MHC) and is known to encode more than 30 protein variants that can be resolved by isoelectric focusing and gel electrophoresis. There are three BF alleles - BF*S, BF*FB and BF*FA - that differ in codon 7 at nucleotide positions 94 and 95. These alleles have CGG, TGG or CAG triplets at their codon 7, respectively, that code for Arg, Trp or Gln residues. We have developed a novel polymerase chain reaction using sequence-specific primers-based allotyping assay that can identify nucleotide substitutions in codon 7 in all the three BF alleles. The assay was validated by sequencing and amplified fragment length polymorphism. Using this SSP assay, we report the BF alleles located on the multiple human leukocyte antigen (HLA)-DR3 haplotypes that are unique in the Indian population and are associated with autoimmunity. The common type 1 diabetes (T1D)-favoring Caucasian haplotype HLA-A1-B8-DR3 (ancestral haplotype AH8.1) carries BF*S. However, in the North Indian T1D patients, the most common haplotype is HLA-A26-B8-DR3 (AH8.2) and this carried BF*FB. Because of its association with AH8.2, the BF*FB was overrepresented in the patients (51.03%) compared with healthy controls (32.7%, OR = 2.148, 95% CI = 1.34-3.44, P = 0.002). Similar studies on allotyping BF alleles in different haplotypes in various populations could have important implications in understanding mechanisms of MHC haplotypic diversifications and disease associations and designing future therapeutic approaches.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 1 diabetes mellitus  IAGP 2311335DNA:polymorphismRGD 
type 1 diabetes mellitus  ISOCFB (Homo sapiens)2311335; 2311335DNA:polymorphismRGD 

Objects Annotated

Genes (Rattus norvegicus)
Cfb  (complement factor B)

Genes (Mus musculus)
Cfb  (complement factor B)

Genes (Homo sapiens)
CFB  (complement factor B)


Additional Information