288 Familial Aggregation and Heritability of Pyloric Stenosis

Abstract

CYP27B1 gene encodes 1alpha-hydroxylase, responsible for conversion of the vitamin D 3 precursor into its most active metabolite, involved in the immune function. Its promoter C(-1260) A polymorphism might affect 1alpha-hydroxylase expression and therefore contribute to autoimmunity. PDCD1 gene encodes an inhibitory cell-surface receptor, expressed on activated lymphocytes, which plays a role in maintaining immune tolerance. PDCD1 G7146A variant with putative regulatory function, has previously been associated with various autoimmune disorders. Autoimmune destruction of glandular cells is the main reason of type 1 diabetes (T1D). The aim of this study was to investigate the associations of the CYP27B1 C(-1260)A and PDCD1 G7146A polymorphisms with T1D in Polish children. The study comprised 215 T1D patients with mean age 8.3 (±4.3) years compared to 251 healthy controls. Genotyping was performed by PCR-RFLP method, using TfiI and PstI restriction enzymes, respectively. No association with CYP27B1 polymorphism was found for T1D (p=0.594 and p=0.989 for alleles and genotypes, respectively). The frequencies of alleles and genotypes at the PDCD1 G7146A polymorphism did not present significant differences between affected subjects and controls (p>0.05). In conclusion, this study presents no association of the CYP27B1 C(-1260)A and PDCD1 G7146A polymorphism with T1D risk in Polish children.