Association of HLA-DRB1*14 with rheumatic heart disease patients from Chandigarh, North India.
BACKGROUND
Acute rheumatic fever (ARF)/rheumatic heart disease (RHD) is a major cause of morbidity and mortality in India, yet, few studies are available on susceptibility markers.


OBJECTIVE
To associate human leukocyte antigen (HLA) class II alleles with north Indian RHD patients as genetic susceptibility markers.


METHODS
HLA alleles were analysed using sequence specific primer-polymerase chain reaction and nucleotide sequencing, while HLA-B27 expression by flowcytometry.


RESULTS
Few HLA-DQB1/DRB1 alleles were associated with RHD and HLA-DRB1*14 gene polymorphism revealed two single nucleotide polymorphisms (SNPs) in patients. Bioinformatic predictions showed influence of SNPs on protein function. HLA-B27 was positive in 42.85% ARF patients.


CONCLUSIONS
The study showed association of different HLA class II alleles with RHD in North Indian population.
Department of Experimental Medicine and Biotechnology, Chandigarh, India.
Devinder
D
Toor
Komal
K
Leal
Rajesh
R
Kumar
Yash Paul
YP
Sharma
Anuradha
A
Chakraborti
D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005434:Flow Cytometry; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D015796:HLA-B27 Antigen / Q000235:genetics*; D059866:HLA-DQ beta-Chains / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007194:India; D008297:Male; D016133:Polymerase Chain Reaction; D012214:Rheumatic Heart Disease / Q000235:genetics*
D015796:HLA-B27 Antigen; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen