Frequency analysis of HLA-B allele in leukemia patients from a North Indian population: A case-control study

Mishra, Vikash Chandra; Deshpande, Trupti; Gupta, Nikita; Dorwal, Pranav; Chandra, Dinesh; Raina, Vimarsh

doi:10.1016/j.mgene.2020.100842

Cited by 2 publications

(1 citation statement)

References 26 publications

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“…The MHC is regarded as highly gene dense and hyperpolymorphic region of human genome [ 41 , 51 ]. Gene's mutation in MHC region is involved in pathogenesis of diseases like diabetes [ 52 ], rheumatoid arthritis [ 53 ], cancer [ 54 ], multiple sclerosis [ 55 ], and psoriasis [ 56 ] and also involved in adverse drug reactions [ 57 , 58 ]. We tested association of genetic polymorphism in HLA-B and T2D susceptibly in Pashtun ethnic population of Khyber Pakhtunkhwa, Pakistan.…”

Section: Discussionmentioning

confidence: 99%

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan

Jan

Saeed

Afridi

et al. 2021

Journal of Diabetes Research

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Human leukocyte antigen (HLA) system is the most polymorphic and gene dense region of human DNA that has shown many disease associations. It has been further divided into HLA classes I, II, and III. Polymorphism in HLA class II genes has been reported to play an important role in the pathogenesis of type 1 diabetes (T1D). It also showed association with T2D in different ethnic populations. However, a little is known about the relationship of HLA class I gene polymorphism and T2D. This study has evaluated the association of HLA-B (class I gene) variants with T2D in Pashtun ethnic population of Khyber Pakhtunkhwa. In the first phase of the study, whole exome sequencing (WES) of 2 pooled DNA samples was carried out, and DNA pools used were constructed from 100 diabetic cases and 100 control subjects. WES results identified a total of n = 17 SNPs in HLA-B gene. In the next phase, first 5 out of n = 17 reported SNPs were genotyped using MassARRAY® system in order to validate WES results and to confirm association of selected SNPs with T2D. Minor allele frequencies (MAFs) and selected SNPs×T2D association were determined using chi-square test and logistic regression analysis. The frequency of minor C allele was significantly higher in the T2D group as compared to control group (45.0% vs. 13.0%) ( p = 0.006 ) for rs2308655 in HLA-B gene. No significant difference in MAF distribution between cases and controls was observed for rs1051488, rs1131500, rs1050341, and rs1131285 ( p > 0.05 ). Binary logistic regression analyses showed significant results for SNP rs2308655 ( OR = 2.233 , CI 95 % = 1.223 ‐ 4.077 , and p = 0.009 ), while no considerable association was observed for the other 4 SNPs. However, when adjusted for these variants, the association of rs2308655 further strengthened significantly ( adjusted OR = 7.485 , CI 95 % = 2.353 ‐ 23.812 , and p = 0.001 ), except for rs1131500, which has no additive effect. In conclusion, the finding of this study suggests rs2308655 variant in HLA-B gene as risk variant for T2D susceptibility in Pashtun population.

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Section: Discussionmentioning

confidence: 99%

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan

Jan

Saeed

Afridi

et al. 2021

Journal of Diabetes Research

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Role of HLA-DPrs3077 and HLA-DQrs3920 Polymorphisms as Risk Factors for Type 1 Diabetes Mellitus

Ghazy

2023

EMIDDT

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aims: This case-control study aimed to assess the role of HLA-DPrs3077 and HLA-DQrs3920 single-nucleotide polymorphisms (SNP) in T1DM. background: Type 1 diabetes mellitus (T1DM) is a chronic disease caused by destruction of insulin-producing pancreatic β-cells. During disease progression, inflammatory insulitis increases the presentation of islet antigens on human leukocyte antigen (HLA) molecules to T lymphocytes. This complex system plays a pivotal role in the cellular immunity. Thus, genetic variability in HLA can affect the susceptibility to and clinical outcomes of DM objective: Determine HLA-DPrs3077 single-nucleotide polymorphisms (SNP) in T1DM. Determine HLA-DQrs3920 single-nucleotide polymorphisms (SNP) in T1DM. method: This study enrolled 400 individuals:200 patients with type 1 DM and 200 age- and sex-matched healthy controls. Hemoglobin A1C and random, fasting, and postprandial blood sugar levels were determined for all subjects. Genotypic and allelic distributions of HLA-DPrs3077 and HLA-DQrs3920 SNPs were determined using real-time PCR. result: The HLA-DPrs3077A allele was more frequent in the diabetic group (91.3%), with an OR (95% C.I) of 1.422(0.898 – 2.252). The frequency of HLA-DQ rs3920GG genotype was higher in the control group (52.5% vs. 12%), whereas that of AA genotype was higher in the diabetic group (34% vs. 4%). Individuals carrying the HLA-DQrs3920A allele were 4.5 times more likely to have T1DM than those carrying the G allele [OR (95% C.I) = 4.510 (3.338 – 6.094), P&lt;0.001*]. presence of HLA-DPrs3077A and HLA-DQ rs3920A in the same person increases T1DM risk by 3.6 times the G allele (P&lt;0.001*). conclusion: HLA-DPrs3077A and HLA-DQrs3920A may be alleles susceptible to T1DM, particularly if they coexist. other: none

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Frequency analysis of HLA-B allele in leukemia patients from a North Indian population: A case-control study

Cited by 2 publications

References 26 publications

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan

Role of HLA-DPrs3077 and HLA-DQrs3920 Polymorphisms as Risk Factors for Type 1 Diabetes Mellitus

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