title: The CBLB gene and Graves' disease in children.
abstract: 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.
authors.affiliation: Department of Pediatrics, Chiayi Christian Hospital, Chiayi, Taiwan.
authors.forename: Chia-Ching
authors.initials: CC
authors.lastname: Chen
authors.forename: Chi-Yu
authors.initials: CY
authors.lastname: Huang
authors.forename: Fu-Yuan
authors.initials: FY
authors.lastname: Huang
authors.forename: Ching-Wen
authors.initials: CW
authors.lastname: Dang
authors.forename: Chiung-Ling
authors.initials: CL
authors.lastname: Lin
authors.forename: Fu-Sung
authors.initials: FS
authors.lastname: Lo
authors.forename: Chao-Hsu
authors.initials: CH
authors.lastname: Lin
authors.forename: Ching-Cheng
authors.initials: CC
authors.lastname: Tsang
authors.forename: Hsin-Jung
authors.initials: HJ
authors.lastname: Li
authors.forename: Hsin-Fu
authors.initials: HF
authors.lastname: Liu
authors.forename: Chen-Chung
authors.initials: CC
authors.lastname: Chu
authors.forename: Marie
authors.initials: M
authors.lastname: Lin
authors.forename: Yann-Jinn
authors.initials: YJ
authors.lastname: Lee
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers; D005260:Female; D006111:Graves Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D050721:Proto-Oncogene Proteins c-cbl / Q000235:genetics*; D013624:Taiwan
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D017931:DNA Primers; C492211:CBLB protein, human; D050721:Proto-Oncogene Proteins c-cbl