PMID- 22204478 OWN - NLM STAT- MEDLINE DCOM- 20120723 LR - 20120301 IS - 1366-5804 (Electronic) IS - 1354-750X (Linking) VI - 17 IP - 2 DP - 2012 Mar TI - Association of HLA-DRB1*14 with rheumatic heart disease patients from Chandigarh, North India. PG - 160-5 LID - 10.3109/1354750X.2011.645556 [doi] AB - 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. FAU - Toor, Devinder AU - Toor D AD - Department of Experimental Medicine and Biotechnology, Chandigarh, India. FAU - Leal, Komal AU - Leal K FAU - Kumar, Rajesh AU - Kumar R FAU - Sharma, Yash Paul AU - Sharma YP FAU - Chakraborti, Anuradha AU - Chakraborti A LA - eng PT - Journal Article DEP - 20111229 PL - England TA - Biomarkers JT - Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals JID - 9606000 RN - 0 (HLA-B27 Antigen) RN - 0 (HLA-DQ beta-Chains) RN - 0 (HLA-DQB1 antigen) SB - IM MH - Adolescent MH - Adult MH - Alleles MH - Case-Control Studies MH - Child MH - DNA Mutational Analysis MH - Female MH - Flow Cytometry MH - Gene Frequency MH - Genetic Predisposition to Disease MH - HLA-B27 Antigen/*genetics MH - HLA-DQ beta-Chains/*genetics MH - Haplotypes MH - Humans MH - India MH - Male MH - Polymerase Chain Reaction MH - Rheumatic Heart Disease/*genetics EDAT- 2011/12/30 06:00 MHDA- 2012/07/24 06:00 CRDT- 2011/12/30 06:00 PHST- 2011/12/30 06:00 [entrez] PHST- 2011/12/30 06:00 [pubmed] PHST- 2012/07/24 06:00 [medline] AID - 10.3109/1354750X.2011.645556 [doi] PST - ppublish SO - Biomarkers. 2012 Mar;17(2):160-5. doi: 10.3109/1354750X.2011.645556. Epub 2011 Dec 29.