Association of rs6441961 with celiac disease patients from Punjabi Pakistani population

Celiac disease (CD) is well known for chronic inflammation of intestine due to the gluten intolerance. Various environmental and genetic factors are responsible for CD pathogenesis. Studies have shown that polymorphisms in C-C chemokine receptor type 3 encoding CCR3 gene are important in onset and progression of CD owing to its prominent role in promoting allergic reactions and other CD-related complications. Various studies have shown that CCR3 rs6441961 T > C polymorphism significantly increases the risk of CD. Thus, the objectives of current study were to genotype the rs6441961 by using cost efficient and rapid genotyping assay, assess its prevalence in Punjabi Pakistani population and to check its association with celiac disease. Total 90 subjects were recruited and divided into two groups [healthy controls (N = 55) and patient group (N = 35)]. Tetra-ARMS-PCR was designed, optimized and used for quick, specific and less expensive genotyping of rs6441961. Chi-square test and logistic regression analysis were applied to check the association of rs6441961 with CD. Statistical analysis revealed that TT and TC genotypes were more prevalent in both groups, however, the prevalence of CC genotype was more in patient group as compared to healthy controls (25.8% vs. 18.2%). In spite of these differences, they could not reach the significance level (χ2 = 0.74, p  = 0.69). Multinomial regression analysis also complimented the findings of chi-square test. In summary, in-house developed tetra-ARMS-PCR is rapid, accurate and cost effective. TT genotype is more prevalent in Punjabi Pakistani population. The risk of CD in Punjabi Pakistani population is not influenced by CCR3 rs6441961 T > C polymorphism.