PMID- 14588097 OWN - NLM STAT- MEDLINE DCOM- 20040603 LR - 20061115 IS - 1050-7256 (Print) IS - 1050-7256 (Linking) VI - 13 IP - 9 DP - 2003 Sep TI - Polymorphism in the transmembrane region of the major histocompatibility complex class I chain-related gene A: association of five GCT repetitions with Graves' disease in children. PG - 839-43 AB - Graves' disease is an autoimmune disease involving a complex interplay of multiple genetic and environmental influences. An association between the disorder and the major histocompatibility complex (MHC; human leukocyte antigen [HLA]) region has long been reported. The major histocompatibility complex class I chain-related gene A (MICA) has a triplet repeat polymorphism in the transmembrane region consisting of six alleles. For this study, the polymorphism in question was analyzed for 129 unrelated children with Graves' disease (97 girls and 32 boys, 10.0 +/- 3.0 years of age) and 396 randomly selected, unrelated subjects (205 females, 191 males, 8.4 +/- 13.5 years of age). The frequencies of genotype A5/A5 and A5/A5.1 were significantly higher in patients than in controls (relative risk [RR] = 2.49, 95% confidence interval [CI] 1.52-4.10, p = 0.00024, pc = 0.0035 and RR = 2.13, 95% CI 1.31-3.47, p = 0.0020, pc = 0.030; respectively). The frequency of genotype A5.1/A5.1 was significantly lower in patients than in controls (RR = 0.09, 95% CI 0.01-0.66, p = 0.0030, pc = 0.044). Allele frequency for allele A5 was significantly higher for children with Graves' disease compared to controls (RR = 2.12; 95% CI = 1.59-2.82; p = 1.9 x 10(-7); pc = 9.5 x 10(-7)). This study demonstrates that MICA allele A5 confers the risk for Graves' disease. FAU - Lo, Fu-Sung AU - Lo FS AD - Department of Pediatrics, Chang Gung Children's Hospital, Tao-Yuang, Taiwan. FAU - Lee, Yann-Jinn AU - Lee YJ FAU - Huang, Chi-Yu AU - Huang CY FAU - Lin, Chao-Hsu AU - Lin CH FAU - Chang, Shih-Chuan AU - Chang SC FAU - Dang, Ching-Wen AU - Dang CW FAU - Liu, Hsin-Fu AU - Liu HF LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Thyroid JT - Thyroid : official journal of the American Thyroid Association JID - 9104317 RN - 0 (Membrane Proteins) SB - IM MH - Adolescent MH - Case-Control Studies MH - Child MH - Child, Preschool MH - Female MH - Gene Frequency MH - Genes, MHC Class I/*genetics MH - Genetic Predisposition to Disease MH - Genotype MH - Graves Disease/*genetics/immunology MH - Humans MH - Male MH - Membrane Proteins/*genetics MH - Polymorphism, Genetic/genetics MH - Trinucleotide Repeats/*genetics EDAT- 2003/11/01 05:00 MHDA- 2004/06/04 05:00 CRDT- 2003/11/01 05:00 PHST- 2003/11/01 05:00 [pubmed] PHST- 2004/06/04 05:00 [medline] PHST- 2003/11/01 05:00 [entrez] AID - 10.1089/105072503322401023 [doi] PST - ppublish SO - Thyroid. 2003 Sep;13(9):839-43. doi: 10.1089/105072503322401023.