Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.

Background: The gene on chromosome 20q13.3 is a complex, imprinted locus regulated in a tissue-specific manner. inactivation disorders are a heterogeneous group of rare disorders caused by mutations and methylation defects.

Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans.

Background: Considerable amount of evidences in the Caucasians have suggested the association of a missense single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene (rs2476601) with several autoimmune diseases including autoimmune thyroid diseases (AITD) and type 1 diabetes (T1D). As the SNP was reported to be non-polymorphic in Asians, we attempt to explore an association of PTPN22 without restricting to the rs2476601 with AITD or T1D in Korean population.

Methods: We studied 389 T1D, 212 AITD (84 Graves' disease and 128 Hashimoto's thyroiditis) patients and 225 controls.

Evidence for the role of STAT4 as a general autoimmunity locus in the Korean population.

Background: Recently, the association of a common STAT4 haplotype with type 1 diabetes (T1D) as well as rheumatoid arthritis has been documented in Caucasians and Koreans. STAT4 is involved in the signalling of interleukin-12 and γIFN, as well as interleukin-23. To discover genes affecting the susceptibility of common autoimmune diseases, we studied the association of polymorphisms in STAT4 with autoimmune thyroid disease (AITD) as well as T1D in the Korean population.

Determination of the BMI threshold that predicts cardiovascular risk and insulin resistance in late childhood.

Aims: Body mass index (BMI, kg/m(2)) thresholds of children predicting cardiovascular risk, reported in previous studies were inconsistent and that predicting increased insulin resistance is lacking. We determined the BMI threshold that predicts increased cardiovascular risk and insulin resistance in children.

Methods: The entire 4th grade students (187 boys and 218 girls) from 5 schools were included.

STAT4 polymorphism is associated with early-onset type 1 diabetes, but not with late-onset type 1 diabetes.

In an effort to discover non-HLA genes affecting susceptibility to type 1 diabetes (T1D), we have investigated the association of polymorphisms in STAT4, an important signaling molecule of IL-12, gammaIFN, and IL-23, in a sample of 389 T1D patients and 152 nondiabetic controls in Korea. Four SNPs on chromosome 2q, which were recently found to be associated with rheumatoid arthritis, were examined for association and linkage disequilibrium. We found that neither alleles or genotypes among all four SNPs nor reconstructed haplotypes of the three SNPs within the same LD block (rs7574865, rs8179673, and rs10181656) were associated with susceptibility to T1D.