ABSTRACT
Wilson disease (WD) results from accumulation of copper and is caused due to mutations in ATP7B, a copper transporting ATPase. Although WD is an established monogenic disorder, heterogeneity in phenotype is observed even among patients harboring mutations in ATP7B that would affect the mutant protein similarly. Such observations led to the speculation that there might be modifying loci that modulate the phenotype resulting from the aberration in the ATP7B gene. The expected genes coding for proteins that interact either directly with ATP7B or influence it indirectly might fit the role of modifier locus. ATOX1 and COMMD1 are the candidate genes that might play the role of a modifier locus having copper homeostasis pathway with such potential. To understand the role of modifying genes, we screened ATOX1 and COMMD1, a gene implicated in canine copper toxicosis, in 45 WD patients along with 50 healthy controls. This study did not yield satisfactory results concluding more patients to be analyzed. Keywords: Wilson Disease, ATOX1, COMMD1.