The common variants of E-selectin gene in Graves’ disease

Abstract

Adhesion molecules are involved in cell invasion in autoimmune thyroid disease. It was also reported that patients with untreated Graves' disease (GD) had high serum level of soluble form of E-selectin (sE-selectin), the concentration of which correlated with the activity of the disease. The aim of the present study was to elucidate whether the common variants in Eselectin gene (SELE) were associated with the development of GD. Six tagSNPs within SELE were studied in 297 patients with GD and 208 healthy subjects in Chinese population. Our data showed that common SELE variants were associated with GD (P ¼ 0.012-0.036). Haplotype analysis of the single nucleotide polymorphisms revealed an association of a haplotype ATAACC with GD (P ¼ 0.005). Furthermore, quantitative trait analysis showed a significant association of SELE haplotype with sEselectin levels (P ¼ 0.0438). This study therefore could provide us to a certain degree the insight that common SELE variants may be associated with susceptibility to GD in Chinese population, though the limitation of sample size and multiple test problems exists.

Association of SELE genotypes/haplotypes with sE-selectin levels in Taiwanese individuals: interactive effect of MMP9 level

“…The Ser128Arg gene variant, the most commonly reported SELE-gene polymorphism, is associated with a wide variety of disorders, including coronary artery disease, venous thrombosis, ischemic cerebral vascular disease, postoperative myocardial infarction, prognosis of colorectal cancer, restenosis after successful coronary angioplasty, severity of atherosclerotic arterial disease, peripheral arterial occlusive disease, and coronary calcification [8-12]. Common variants of the SELE gene have also been found associated with the susceptibility to either Graves’ disease or hypertension [13-15]. However, the association between SELE SNPs and E-selectin levels has been controversial [15-17], and the association between SELE SNPs and other inflammatory marker levels has not been reported.…”

“…Common variants of the SELE gene have also been found associated with the susceptibility to either Graves’ disease or hypertension [13-15]. However, the association between SELE SNPs and E-selectin levels has been controversial [15-17], and the association between SELE SNPs and other inflammatory marker levels has not been reported. This investigation aimed to elucidate the association between SELE SNPs and the plasma levels of sE-selectin and MMP9, in Taiwanese individuals.…”

Low frequency haplotypes of E-selectin polymorphisms G2692A and C1901T give increased protection from coronary artery disease

“…To our knowledge only 1 previous study has used similar techniques to identify 6 tagging SNPs [21] and also did not identify A561C as a tagging SNP. Two tagging SNPs identified by HapMap analysis were selected for further study (rs3917417 G2692A and rs3917454 C1901T).…”

The New Perspectives on Genetic Studies of Type 2 Diabetes and Thyroid Diseases

“…[112,113]. Chen H, et al [114,115] reported common L-selectin or E-selectin variants may be associated with susceptibility to Graves' disease in Chinese population. Cytokines, a large group of non-enzymatic proteins, participate in the induction and effector phases of all inflammatory and immune responses, and are therefore likely to play a critical role in the development of autoimmune diseases [116].…”