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J Pediatr Genet 2022; 11(03): 213-220
DOI: 10.1055/s-0041-1723975
Original Article

CYP2D6 rs35742686 and rs3892097 Gene Polymorphisms and Childhood Acute Lymphoblastic Leukemia: Relation to Disease Susceptibility in Kashmiri Children

Nidha Sadiq Shapoo 
1   Department of Biochemistry, University of Kashmir, Srinagar, Jammu and Kashmir, India
,
Akbar Masood
1   Department of Biochemistry, University of Kashmir, Srinagar, Jammu and Kashmir, India
,
Javid R. Bhat
2   Department of Clinical Haematology, Sher-e-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
,
A. S. Bhatia
3   Department of Biochemistry, Government Medical College, Jammu, Jammu and Kashmir, India
,
Idrees A. Shah
1   Department of Biochemistry, University of Kashmir, Srinagar, Jammu and Kashmir, India
,
Bashir A. Ganai
4   Centre of Research for Development, University of Kashmir, Srinagar, Jammu and Kashmir, India
› Institutsangaben
Funding The study was financially supported by Department of Science and Technology (DST), Govt. of India, under Women Scientist B (WOS-B) (SoRF) scheme via Letter No. DST/Disha/SoRF/PM/011/2013/C.
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Abstract

CYP2D6 is one of the most widely investigated CYPs in relation to gene polymorphism. This study analyzed the relationship between CYP2D6 rs35742686 and rs3892097 single-nucleotide polymorphisms (SNPs) and potential risk factors in the development of acute lymphoblastic leukemia (ALL) in Kashmiri children. We recruited 300 cases and 600 controls for genotyping and risk factors assessment. Genotypes of rs35742686 and rs3892097 were analyzed by polymerase chain reaction-restriction fragment length polymorphism method. CYP2D6 expression analysis was done by quantitative reverse transcription polymerase chain reaction in ALL cases. Conditional logistic regression models were used to calculate odds ratios (OR) and 95% confidence intervals (CI). High risk of ALL was observed in cases who carried the mutant genotypes of rs35742686 (OR = 18.15; 95% CI = 4.13–79.66, p < 0.0001) or rs3892097 (OR = 24.06; 95% CI = 10.23–56.53, p < 0.0001). Significant interaction was observed between rs35742686 and rs3892097 SNPs (P interaction = 0.001). The risk associated with the variant genotypes of rs35742686 and rs3892097 was retained in the cases whose fathers were smokers or had maternal X-ray exposure (p < 0.001). Relative messenger ribonucleic acid expression across genotypes was significantly decreased in cases carrying rs357426863 (*3/*3) (n-fold = 0.37 ± 0.156, p < 0.0079) and rs3892097 SNPs (*4/*4) (n-fold = 0.02 ± 0.0075, p < 0.0001) suggesting these two events are independent in ALL cases. The study concluded that rs35742686 and rs3892097 SNPs are significantly associated with ALL risk in Kashmiri children.

Keywords

CYP2D6 - gene polymorphisms - lymphoblastic leukemia - Kashmir


Publikationsverlauf

Eingereicht: 13. August 2020

Angenommen: 17. Dezember 2020

Artikel online veröffentlicht:
19. Februar 2021

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