Association of CYP1A1 gene polymorphism with chronic kidney disease: A case control study

• First report on significant association of CYP1A1 polymorphism with idiopathic CKD.
• Association of CYP1A1*2A and *2C hetero-/homozygous genotype combination with CKD.
• First report of its kind on Indian population.

CYP1A1 is an important xenobiotic metabolizing enzyme, present in liver and kidney. Expression of CYP1A1 enzyme increases manifold when kidney cells are exposed to nephrotoxins/chemicals leading to oxidative stress-induced cell damage. To study the association of CYP1A1 gene polymorphism in patients of chronic kidney disease with unknown etiology (CKDU), we recruited 334 CKDU patients and 334 age and sex matched healthy controls. CYP1A1*2A and *2C polymorphisms were studied by PCR-RFLP and allele specific-PCR respectively. Subjects carrying at least one mutant allele of CYP1A1*2A (TC, CC) and *2C (AG, GG) were shown to be associated with 1.4–2-fold increased risk of CKDU. Also, genotypic combinations of hetero-/homozygous mutants of CYP1A1*2A (TC, CC) with hetero-/homozygous mutant genotypes of CYP1A1*2C (AG, GG) i.e. TC/AG (p < 0.01), TC/GG (p < 0.05), CC/AG (p < 0.05) and CC/GG (p < 0.01) were associated with CKDU with an odd ratio ranging 1.8–3.3 times approximately. This study demonstrates association of CYP1A1 polymorphisms with CKDU.