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       Genetic variants IKZF1 (rs6964823) and ARID5B (rs10740055) in association with
                                    Leukemia in North Indian population.


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             Amrita Bhat , Ruchi Shah , Gh.Rasool Bhat , Sonali Verma , Varun Sharma , Indu Sharma ,Monika Pandita ,
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             Divya Bakshi , Bhanu Sharma , Jyotsna Suri , Deepak Abrol , Rahul Sharma , Rakesh Kumar 1
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             Contributing Authors Affiliations:
             1.School of Biotechnology, SMVDU, Katra, 182320
             2.Human Genetics Research Group, School of Biotechnology, Shri Mata Vaishno Devi University, Katra
             3.Government Medical College Jammu
       Abstract



       Recent GWAS have identified variants of genes IKZF1(rs6964823) and ARID5B (rs10740055) in

       hematological Malignancies. Leukemia is highly prevalent in ethnic North India elucidate

       population of Jammu and Kashmir (J&K), India. The aim of the study was to replicate the
       association of genetic variants rs6964823 and rs10740055 with leukemia patients with ethnic

       background from Jammu and Kashmir region. Atotal of 616 (210 Cases and 406 Controls)samples

       were analyzed by genotyping by Taqman Allele Discrimination assay. We found that the variants
       rs6964823 (IKZF1) with weak association in dominant model 1.5(1.0-2.3) at 95%CI (p

       value=0.046) where as the variant rs10740055 (ARID5B) was found strongly associated under

       dominant model with an odds ratio (OR) =2.5 (1.5-4.1) at 95% CI (p value = 0.0002) after
       correction with age, gender, BMI, alcohol consumption and smoking. We also observed the

       cumulative effect of the risk genotypes of both variants, the OR observed was 4.9 (2.4-9.9, 95%

       CI), p=8×10-6. The evaluation of cumulative risk genotypes of both the variants shows highly
       significant association, suggesting the increased risk of leukemia in individuals carrying the risk

       genotype arrangement.



       Key Words: Leukemia; Jammu and Kashmir; ARID5B (AT-rich interactive domain-containing

       protein 5B), IKZF1 (Ikaros zinc finger)





             Corresponding Author
             Dr. Rakesh Kumar,
             Assistant Professor, School of Biotechnology,
             Shri Mata Vaishno Devi University, Katra, J&K, India
             Mobile: +91-9419279629, Phone- 01991-285695; Ext. 2288
             Email: kumar.rakesh@smvdu.ac.in.






                         The Integrated Indian Journal of Cancer Sciences
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