Bhat Amrita, Shah Ruchi, Bhat Gh Rasool, Verma Sonali, Sharma Varun, Sharma Indu, Pandita Monika, Bakshi Divya, Sharma Bhanu, Suri Jyotsna, Kumar Rakesh
1 Cancer Genetics Research Group, School of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, India.
2 Human Genetics Research Group, School of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, India.
Genet Test Mol Biomarkers. 2019 Mar;23(3):176-179. doi: 10.1089/gtmb.2018.0283. Epub 2019 Feb 27.
Leukemia is a heterogeneous disorder, characterized by elevated proliferation of white blood cells. Various genetic studies have assessed the contributory roles of several single nucleotide polymorphisms with the development of leukemia. The role of genetic variation in the ARID5B and IKZF1 genes has previously been identified in various population groups; however, the role of these variants in the north Indian populations of Jammu and Kashmir is unknown.
In this study, we explored the association of the newly identified genetic variants, rs10740055 of ARID5B and rs6964823 of IKZF1, with leukemic patients from Jammu and Kashmir of northern India.
The variants were genotyped using TaqMan allele discrimination assays for 616 individuals (210 leukemic cases and 406 healthy controls). The association of each SNP with the disease was evaluated using logistic regression.
It was observed that the variants rs6964823 (IKZF1) and rs10740055 (ARID5B) showed significant associations with odds ratio (OR) and p-values of 1.5 (1.0-2.3 at 95% confidence interval [CI]) and 0.04; and 2.5 (1.5-4.1 at 95% CI) and 0.0002, respectively. We also evaluated the cumulative effect for both the variants by combining the risk genotypes and obtained and OR of 4.9.
It was found that the variants rs10740055 of ARID5B and rs6964823 of IKZF1 act individually and additively as risk factors in the development of leukemia in the populations of Jammu and Kashmir in Northern India.
白血病是一种异质性疾病，其特征为白细胞增殖增加。各种基因研究评估了多个单核苷酸多态性在白血病发生中的作用。ARID5B和IKZF1基因的遗传变异作用此前已在不同人群中得到确认；然而，这些变异在印度北部查谟和克什米尔人群中的作用尚不清楚。
在本研究中，我们探究了新发现的ARID5B基因rs10740055和IKZF1基因rs6964823这两个遗传变异与印度北部查谟和克什米尔白血病患者的关联。
采用TaqMan等位基因鉴别分析法对616名个体（210例白血病病例和406名健康对照）进行基因分型。使用逻辑回归评估每个单核苷酸多态性与疾病的关联。
观察到，rs6964823（IKZF1）和rs10740055（ARID5B）变异分别与优势比（OR）和p值显著相关，其OR值和95%置信区间[CI]分别为1.5（1.0 - 2.3）和p = 0.04；以及2.5（1.5 - 4.1）和p = 0.0002。我们还通过合并风险基因型评估了这两个变异的累积效应，得到的OR值为4.9。
发现ARID5B基因的rs10740055和IKZF1基因的rs6964823变异在印度北部查谟和克什米尔人群白血病发生中分别独立且具有累加效应地作为风险因素。
