Significant associations between hemostatic/fibrinolytic systems and accumulation of cardiovascular risk factors in Japanese elementary schoolchildren.

The aim of this study was to establish the reference values of hemostatic/fibrinolytic markers and investigate their relationship with physical constitution and cardiovascular risk factors in a normal schoolchildren population. This study comprised 148 healthy Japanese children aged 9-10 years (males 73; females 75). We performed laboratory tests including blood levels of leptin, high-sensitive C-reactive protein (hs-CRP), hemostatic and fibrinolytic markers [plasminogen activator inhibitor 1 (PAI-1), coagulation factor VII (FVII), coagulation factor X (FX), fibrinogen (Fbg), protein C, protein S], as well as common biochemical markers in the morning after an overnight fast.

Failure to find causal mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene in Japanese febrile seizure patients.

Recently, mutations in the GABA(A)-receptor gamma2 subunit (GABRG2) gene were identified in two families with generalized epilepsy with febrile seizures plus (GEFS+) and two families with childhood absence epilepsy (CAE) and febrile seizures (FS). We tested the hypothesis that genetic variations in the GABRG2 gene confer susceptibility to FS in the Japanese population. We performed a systematic search for mutations in 94 unrelated Japanese patients with FS and detected six variants (-158C>T, 315C>T, 588T>C, IVS5-55C>T, IVS7+20G>A, and IVS7-141T>A).

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.

A naturally occurring mutation of the mass1 (monogenic audiogenic seizure-susceptible) gene recently has been reported in the Frings mouse strain, which is prone to audiogenic seizures. The human orthologous gene, MASS1, was mapped to chromosome 5q14, for which we previously have reported significant evidence of linkage to febrile seizures (FEB4). We screened for MASS1 mutations in individuals from 48 families with familial febrile seizures and found 25 DNA alterations.

Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans.

The voltage-gated sodium channel type II alpha polypeptide gene (SCN2A) R188W mutation with channel dysfunction was recently identified in a patient with febrile and afebrile seizures. A possible association between SCN2A R19K polymorphism and febrile seizures (FS) associated with afebrile seizures including generalized epilepsy with febrile seizures plus (GEFS+) was also noted. We attempted to identify the R188W mutation and confirm association of the R19K polymorphism in 93 Japanese patients with FS, 35 Japanese patients with FS associated with afebrile seizures including GEFS+, and 100 control subjects.

Association between TNFA polymorphism and the development of asthma in the Japanese population.

Tumor necrosis factor (TNF) is a proinflammatory cytokine that participates in the inflammatory reaction in patients with asthma. The TNFA and TNFB genes, which encode TNF-alpha and TNF-beta, respectively, are located within the region encoding the human major histocompatibility complex on chromosome 6p21.3, which showed linkage to atopic asthma in our genome-wide search.