Genetic association study of rs1801133 of MTHFR, rs4646903 of CYP1A1, null mutation of GSTM1&GSTT1 with leukemia in the Jammu region of north Indian population

Leukemia is considered a complex disorder where a plethora of genes are found to be responsible for the disease. Low level of DNA methylation and abruption in carcinogenic metabolism has been significantly associated with leukemia. MTHFR and CYP1A1 are the important regulators of such pathways. The present study aimed to find out the frequency and association of rs1801133 of MTHFR, rs4646903 of CYP1A1, and null mutation of GSTT1and GSTM1 (xenobiotic genes) in the Jammu region of the north Indian population. A total of 111 leukemia patients and for the comparative analysis 161 healthy controls were selected. 3-4 ml of blood was drawn out from the confirmed patient and healthy controls. PCR-RFLP genotyping method was used to find out the frequency and logistic regression with odds ratio was used to observe the association between the selected polymorphism and the risk of diseases. Utilizing different genetic models, rs1801133 of MTHFR was found significantly associated with the risk of leukemia such as the allelic, dominant, and over the dominant genetic model with associated value OR 4.14 (1.30-13.18), 3.88 (1.18-12.72), and 3.46 (1.03-11.54). Concerning the rs4646903 and leukemia risk, a significant association has been observed between a dominant, over-dominant, and allelic model with an associated value of OR 2.22 (1.20-4.08), 2.04 (1.07-3.91), and 2.13 (1.24-3.65). GSTT1-null mutation is significantly (p-value = 0.02) associated with the risk of leukemia. In conclusion, rs1801133 of MTHFR and rs4646903 of CYP1A, and GSTT1-null mutation are critical risk variables for increasing the susceptibility of disease in the Jammu region of the north Indian population in contrast to GSTM1-null mutation.