Our genome-wide association study (GWAS) indicated that several SNPs, including rs1883832 located within the vicinity of CD40 were associated with GD in the Han Chinese population. Rs1883832, located at the -1 position of the Kozak sequence, is the most well-studied single nucleotide polymorphism (SNP) of CD40, and has been confirmed to predispose those with the alteration to GD, regardless of ethnicity. The gene, along with its cognate ligand CD40L, may regulate pro-inflammatory and immune responses. Mutations in CD40 have been widely reported to be risk factors for Graves’ disease (GD). 3Department of Endocrinology, The Ninth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.2Department of Molecular Diagnostic and Endocrinology, The Core Laboratory in Medical Center of Clinical Research, The Ninth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
0 kommentar(er)
