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Association studies are a potentially powerful approach to identifying susceptibility variants for common multifactorial diseases such as type 1 diabetes, but the results are not always consistently reproducible. The IDDM5 locus has recently been narrowed to an approximately 200-kb interval on chromosome 6q25 by two independent groups. These studies demonstrated that alleles at markers in the mitogen-activating protein kinase 7 interacting protein 2 (MAP3K7IP2)/SUMO4 region were associated with susceptibility to type 1 diabetes. Subsequent studies, however, showed inconsistency in the association of the SUMO4 gene with type 1 diabetes. To clarify the contribution of the M55V polymorphism of the SUMO4 gene to type 1 diabetes susceptibility, 541 type 1 diabetic patients and 768 control subjects were studied in Asian populations. The M55V polymorphism was significantly associated with type 1 diabetes in Asian populations (summary odds ratio [OR] 1.46, P = 0.00083, Mantel-Haenszel test). Meta-analysis of published studies and the present data confirmed a highly significant association in Asian populations (summary OR 1.29, P = 7.0 x 10(-6)) but indicated heterogeneity in the genetic effect of the SUMO4/MAP3K7IP2 locus on type 1 diabetes among diverse ethnic groups. These data indicate that the MAP3K7IP2/SUMO4 locus in the IDDM5 interval is associated with type 1 diabetes in Asian populations. [ABSTRACT FROM AUTHOR]

Purpose: To identify the prevalence of RET/PTC oncogene expression in Korea, and to investigate the correlation between RET/PTC oncogene expression and the known prognostic factors of papillary thyroid carcinoma (PTC) in 22 patients., Methods: We performed reverse transcription-polymerase chain reaction (RT-PCR) for RET/PTC1, RET/PTC2, and RET/PTC3 rearrangements and immunohistochemical staining for the RET gene. Patient information was obtained from medical records. The chi(2) test, independent sample t-test, and logistic regression were used for statistical analysis., Results: The mean age of the patients was 44.4 years. RET/PTC rearrangement by RT-PCR was positive in only 2 (9.1%) of the 22 patients, and RET/PTC1 and RET/PTC3 were positive in 1 patient each (4.5%). Immunohistochemical staining revealed positive RET oncogene expression in 8 patients (36.3%). RET oncogene expression was marginally related to recurrence ( P = 0.05), but without significance by multivariate analysis., Conclusion: It is possible that a rare form of rearrangement exists in Korean papillary thyroid carcinoma, but this study failed to prove that RET oncogene expression is associated with alleged prognostic factors.