Chen Chia-Ching, Huang Chi-Yu, Huang Fu-Yuan, Dang Ching-Wen, Lin Chiung-Ling, Lo Fu-Sung, Lin Chao-Hsu, Tsang Ching-Cheng, Li Hsin-Jung, Liu Hsin-Fu, Chu Chen-Chung, Lin Marie, Lee Yann-Jinn
Department of Pediatrics, Chiayi Christian Hospital, Chiayi, Taiwan.
J Pediatr Endocrinol Metab. 2005 Nov;18(11):1119-26. doi: 10.1515/jpem.2005.18.11.1119.
The CBLB gene functions as a negative regulator of autoimmunity. Impairment of the Cbl-b signaling pathway may contribute to human autoimmune disease. dbSNP rs2305035 is a C/T polymorphism located in exon 10 of the CBLB gene. We report an association study of this polymorphism in children with Graves' disease. The patients were 158 unrelated children (125 girls) with Graves' disease, aged 9.8 +/- 3.3 years. The controls consisted of 237 adults without a history of autoimmune disease. The C allele and phenotype frequencies of patients and controls were 247 (78.2%) vs 356 (75.1%) (OR = 1.19, p >0.05) and 151 (95.6%) vs 221 (93.2%) (OR = 1.56, p >0.05), respectively. The allelic polymorphism in patients and controls with and without DRB1*09012 were also not significantly different. This study demonstrates that the C/T polymorphism in exon 10 of the CBLB gene is not associated with Graves' disease in children.
CBLB基因作为自身免疫的负调节因子发挥作用。Cbl-b信号通路的损伤可能导致人类自身免疫性疾病。dbSNP rs2305035是位于CBLB基因第10外显子的C/T多态性。我们报告了这项多态性与格雷夫斯病患儿的关联研究。患者为158名无亲缘关系的格雷夫斯病患儿（125名女孩），年龄9.8±3.3岁。对照组由237名无自身免疫病史的成年人组成。患者和对照组的C等位基因频率和表型频率分别为247（78.2%）对356（75.1%）（比值比=1.19，p>0.05）和151（95.6%）对221（93.2%）（比值比=1.56，p>0.05）。携带和不携带DRB1*09012的患者与对照组之间的等位基因多态性也无显著差异。本研究表明，CBLB基因第10外显子的C/T多态性与儿童格雷夫斯病无关。
