title: Polymorphism in L-selectin, E-selectin and ICAM-1 genes in Asian Indian pediatric patients with celiac disease.
abstract: Celiac disease (CD) follows an autoimmune course in which both genetic and environmental factors contribute to its development. A strong association with HLA class II molecules, predominantly HLA-DQ2, has been reported in most ethnic groups with CD. The aim of this study was to determine if genetic polymorphisms in L-selectin, E-selectin, and intercellular adhesion molecule-1 (ICAM-1) have any correlation with CD. We investigated 5 mutations, namely F206L in L-selectin, S128R and L554F in E-selectin, and G241R and K469E in ICAM-1, in 37 North Indian pediatric patients with CD. A significant increase in allele frequencies of 128R of E-selectin and the associated genotype SR was observed in patients. No significant differences were observed in the F206L polymorphism of L-selectin, or the G241R and E469K polymorphisms in the ICAM-1 gene in CD. This study illustrates that selectin gene polymorphism might contribute to the genetic background of CD and invites further investigation relevant to understanding the mechanisms underlying the immunopathogenesis of this autoimmune disease.
authors.affiliation: Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
authors.forename: G
authors.initials: G
authors.lastname: Kaur
authors.forename: C C
authors.initials: CC
authors.lastname: Rapthap
authors.forename: S
authors.initials: S
authors.lastname: Kumar
authors.forename: S
authors.initials: S
authors.lastname: Bhatnagar
authors.forename: M K
authors.initials: MK
authors.lastname: Bhan
authors.forename: N K
authors.initials: NK
authors.lastname: Mehra
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D002446:Celiac Disease / Q000235:genetics*; D002648:Child; D019040:E-Selectin / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D018799:Intercellular Adhesion Molecule-1 / Q000235:genetics*; D019041:L-Selectin / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D019040:E-Selectin; D018799:Intercellular Adhesion Molecule-1; D019041:L-Selectin