A complex insertion/deletion polymorphism in the compositionally biased region of the ZFHX3 gene in patients with coronary heart disease in a Chinese population.

Coronary heart disease (CHD) is a leading cause of morbidity and mortality around the world and has both genetic and environmental precipitants. Genetic factors are significant in determining the level of risk factors in individuals. Variants in ZFHX3 gene are associated with atrial fibrillation in individuals of European ancestry. The aim of this study was to analyze the polymorphisms in the compositionally biased region of the ZFHX3 gene in patients with coronary heart disease in a Chinese population, and to explore their associations with coronary heart disease. We recruited 278 CHD patients and 358 age and sex matched healthy controls in a Chinese Han population, polymorphisms in the compositionally biased region of the ZFHX3 gene were determined by polymerase chain reaction followed by DNA sequencing. The genotype frequencies were calculated, and statistical analysis was performed using the non-parametric mood median test. A complex insertion/deletion polymorphism was identified in the compositionally biased region of the ZFHX3 gene in a Chinese population. Six common genotypes (GGC)4GGTGGCAGT(GGC)4GGT(GGC)8, (GGC)4GGTGGCAGT(GGC)5GGT(GGC)8, (GGC)4GGTGGCAGT(GGC)5GGT(GGC)7, (GGC)2GGTGGCAGT(GGC)5GGT(GGC)10, (GGC)4GGTGGCAGT(GGC)5GGT(GGC)5, and (GGC)4GGT(GGC)8 were found in both CHD patients and healthy controls, there was no significant difference in the six genotype frequencies between CHD patients and healthy controls. Rare genotypes (GGC)4GGTGGCAGT(GGC)2GGT(GGC)2GGT(GGC)6, (GGC)4GGTGGCAGT (GGC)8, (GGC)4GGTGGCAGT(GGC)(3)GGT(GGC)8, and (GGC)6GGT(GGC)8 were only identified in healthy controls. Rare genotypes (GGC)4GGTGGCAGT(GGC)4GGT(GGC)5, (GGC)4GGTGGCAGT(GGC)4GGT(GGC)4, and (GGC)4GGTGGCGGT(GGC)6 were only found in CHD patients. The compositionally biased region of the ZFHX3 gene contains a poly-Gly sequence. A complex insertion/deletion polymorphism exists in this region in a Chinese population, clinical significance of some rare genotypes should be explored for CHD in the future.