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Updated: Jul 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The common variants of E-selectin gene in Graves' disease
1Shanghai Institute of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, Ruijin Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, PR China.
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 E-selectin 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=0.012-0.036). Haplotype analysis of the single nucleotide polymorphisms revealed an association of a haplotype ATAACC with GD (P=0.005). Furthermore, quantitative trait analysis showed a significant association of SELE haplotype with sE-selectin levels (P=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.
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