Association of HLA-DRB1*14 with rheumatic heart disease patients from Chandigarh, North India

作者：Toor Devinder; Leal Komal; Kumar Rajesh; Sharma Yash Paul; Chakraborti Anuradha^*

来源：Biomarkers, 2012, 17(2): 160-165.

DOI：10.3109/1354750X.2011.645556

• Group A streptococcus (GAS)
• HLA-B27
• HLA gene polymorphism
• single nucleotide polymorphism

Context: 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.
Materials and 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.
Conclusion: The study showed association of different HLA class II alleles with RHD in North Indian population.

• 出版日期2012-3
• 单位河北医科大学