PMID- 19000152
OWN - NLM
STAT- MEDLINE
DCOM- 20090824
LR  - 20081204
IS  - 1399-0039 (Electronic)
IS  - 0001-2815 (Linking)
VI  - 72
IP  - 6
DP  - 2008 Dec
TI  - Allotyping human complement factor B in Asian Indian type 1 diabetic patients.
PG  - 517-24
LID - 10.1111/j.1399-0039.2008.01137.x [doi]
AB  - 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.
FAU - Kumar, N
AU  - Kumar N
AD  - Department of Transplant Immunology and Immunogenetics, All India Institute of 
      Medical Sciences, Ansari Nagar, New Delhi, India.
FAU - Kaur, G
AU  - Kaur G
FAU - Tandon, N
AU  - Tandon N
FAU - Mehra, N K
AU  - Mehra NK
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080929
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (HLA-DR3 Antigen)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - EC 3.4.21.47 (Complement Factor B)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Alleles
MH  - Base Sequence
MH  - Child
MH  - Child, Preschool
MH  - Complement Factor B/*genetics/immunology
MH  - Diabetes Mellitus, Type 1/ethnology/*genetics/immunology
MH  - Female
MH  - Gene Frequency/*genetics/immunology
MH  - Genotype
MH  - HLA-DR3 Antigen/*genetics/immunology
MH  - Haplotypes
MH  - Histocompatibility Antigens Class I/genetics/immunology
MH  - Humans
MH  - India
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Young Adult
EDAT- 2008/11/13 09:00
MHDA- 2009/08/25 09:00
CRDT- 2008/11/13 09:00
PHST- 2008/11/13 09:00 [pubmed]
PHST- 2009/08/25 09:00 [medline]
PHST- 2008/11/13 09:00 [entrez]
AID - TAN1137 [pii]
AID - 10.1111/j.1399-0039.2008.01137.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2008 Dec;72(6):517-24. doi: 10.1111/j.1399-0039.2008.01137.x. 
      Epub 2008 Sep 29.