![]() ![]() ![]() Furthermore, we demonstrated that rs1883832 is a susceptibility locus for pTRAb+ GD patients. Through searching the cis-expression quantitative trait locus database and using quantitative RT-PCR, we further discovered that the rs1883832 genotype can influence CD40 gene transcription. ![]() Aiming at identifying the most consequential SNP and its underlying pathogenic mechanism, we performed a two-stage refined study on 8,171 patients with GD and 7,906 controls, and found rs1883832 was the most significantly GD-associated SNP in the CD40 gene region ( P Combined = 9.17×10 -11, OR = 1.18). ![]() 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.1Liver Cancer Institute, Zhongshan Hospital, Fudan University, Shanghai, China.He Jiang 1†, Fei-Fei Yuan 1†, Hai-Ning Wang 2†, Wei Liu 2,3†, Xiao-Ping Ye 2, Shao-Ying Yang 2, Hui-Jun Xie 2, Sha-Sha Yu 2, Yu-Ru Ma 2, Le-Le Zhang 2, Shuang-Xia Zhao 2*, Huai-Dong Song 2* and The China Consortium for the Genetics of Autoimmune Thyroid Disease ![]()
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