# Genetic polymorphisms of the CDC27 gene are associated with susceptibility and outcomes of non-syndromic congenital heart disease: a bi-ethnic case–control study in Chinese populations

## TL;DR

This study found that genetic variations in the CDC27 gene are linked to heart disease risk and outcomes in a Chinese population.

## Contribution

Identified ethnic-specific CDC27 gene polymorphisms associated with congenital heart disease and cardiac outcomes in Xinjiang.

## Key findings

- CDC27 rs11570579 is linked to CHD risk in Uyghur people but not in Han people.
- CDC27 rs11570488 is associated with higher pulmonary artery pressure and worse outcomes in CHD patients.
- Ethnic-specific haplotypes in CDC27 influence CHD susceptibility and cardiac remodeling.

## Abstract

Cell division cycle 27 (CDC27) gene expression is closely associated with the cell cycle and has been implicated in the pathogenesis of congenital heart disease (CHD) in animal models. This study focuses on investigating whether single-nucleotide polymorphisms (SNPs) in the CDC27 gene are associated with CHD and the cardiac remodeling process in the population of Xinjiang, China.

This study conducted a case–control study including 689 controls and 575 patients with CHD. SNPs of the CDC27 gene were genotyped using an improved multiple ligase detection reaction.

Our study found that the CDC27 rs11570579 polymorphism was significantly associated with CHD susceptibility in the Uyghur population (additive model: aOR = 0.66, p = 0.029; dominant model: aOR = 0.80, p = 0.038), but not in the Han population. The rs11570488 GA genotype was associated with higher pulmonary artery systolic pressure (PASP), more severe cardiac remodeling, and increased long-term mortality in both ethnic groups (all p < 0.001), with the mortality difference being significant only in patients with pulmonary hypertension. Haplotype analysis identified ethnic-specific haplotypes associated with CHD susceptibility and elevated PASP.

The CDC27 rs11570579 polymorphism is associated with susceptibility to CHD in the Uyghur population of Xinjiang. The rs11570488 polymorphism is associated with PASP, cardiac remodeling, and long-term mortality in patients with CHD.