Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population.

Coronary artery disease (CAD) causes more than 700,000 deaths each year in China. Previous genome-wide association studies (GWAS) in populations of European ancestry identified several genetic loci for CAD, but no such study has yet been reported in the Chinese population. Here we report a three-stage GWAS in the Chinese Han population.

[A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia].

Objective: To identify mutations and variants in CASQ2 gene in 27 CPVT patients/family members.

Methods: Mutational analysis was performed with direct DNA sequence analysis. The frequency of an identified CASQ2 variant was determined using the Taqman genotyping assay.

Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. In this study, we identified a Chinese family with CFEOMI for four generations. Linkage analysis mapped the causative gene of the family to 12q with a Lod score 2.