Kaur G, Rapthap C C, Kumar S, Bhatnagar S, Bhan M K, Mehra N K
Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Hum Immunol. 2006 Aug;67(8):634-8. doi: 10.1016/j.humimm.2006.05.001. Epub 2006 Jun 5.
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.
乳糜泻(CD)遵循自身免疫过程,其中遗传和环境因素均对其发展起作用。在大多数患有CD的种族群体中,均报道了与II类人类白细胞抗原(HLA)分子,主要是HLA - DQ2,存在强关联。本研究的目的是确定L - 选择素、E - 选择素和细胞间黏附分子 - 1(ICAM - 1)中的基因多态性是否与CD存在任何关联。我们调查了37名患有CD的北印度儿科患者中的5种突变,即L - 选择素中的F206L、E - 选择素中的S128R和L554F,以及ICAM - 1中的G241R和K469E。在患者中观察到E - 选择素128R的等位基因频率及相关基因型SR显著增加。在CD患者中,未观察到L - 选择素的F206L多态性或ICAM - 1基因中的G241R和E469K多态性存在显著差异。本研究表明选择素基因多态性可能有助于CD的遗传背景,并促使开展进一步研究以了解这种自身免疫性疾病免疫发病机制的潜在机制。