The CBLB gene and Graves' disease in children.
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.
Chen
Chia-Ching
CC
Department of Pediatrics, Chiayi Christian Hospital, Chiayi, Taiwan.
Huang
Chi-Yu
CY
Huang
Fu-Yuan
FY
Dang
Ching-Wen
CW
Lin
Chiung-Ling
CL
Lo
Fu-Sung
FS
Lin
Chao-Hsu
CH
Tsang
Ching-Cheng
CC
Li
Hsin-Jung
HJ
Liu
Hsin-Fu
HF
Chu
Chen-Chung
CC
Lin
Marie
M
Lee
Yann-Jinn
YJ
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
D048868:Adaptor Proteins, Signal Transducing; D017931:DNA Primers; C492211:CBLB protein, human; D050721:Proto-Oncogene Proteins c-cbl