CDC27 rs11570579 polymorphism was associated with decreased CHD susceptibility in Uyghur patients (aOR 0.66), and rs11570488 GA genotype was linked to significantly higher pulmonary artery pressure, more cardiac remodeling, and increased 8-year mortality compared to GG genotype in CHD patients with pulmonary hypertension.
Case-Control (n=1,264)
No
Are CDC27 gene polymorphisms associated with susceptibility to and outcomes of non-syndromic congenital heart disease in Chinese populations?
CDC27 gene polymorphisms are associated with susceptibility to non-syndromic congenital heart disease in the Uyghur population and correlate with adverse cardiac remodeling and long-term mortality across both Han and Uyghur patients.
Effect estimate: For Uyghur CHD patients: GA genotype mortality 9 deaths (32.1%) vs GG genotype 7 deaths (2.8%); For Han CHD patients: GA genotype mortality 14 deaths (26.9%) vs GG genotype 12 deaths (4.7%)
Absolute Event Rate: 26% vs 12%
p-value: p=<0.001
Background 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. Methods 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. Results 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. Conclusion 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.
Yuan et al. (Wed,) conducted a case-control in Patients with non-syndromic congenital heart disease (CHD) including ASD, VSD, PDA, ToF, and TGA and control healthy subjects without genetic disorders from Han and Uyghur ethnicities in Xinjiang, China (n=1,264). CDC27 gene polymorphisms (genetic variants rs11570579 and rs11570488) vs. Wild-type or other genotypes of CDC27 gene SNPs was evaluated on All-cause mortality during 8-year follow-up in patients with CHD, stratified by CDC27 rs11570488 genotypes and presence of pulmonary hypertension (For Uyghur CHD patients: GA genotype mortality 9 deaths (32.1%) vs GG genotype 7 deaths (2.8%); For Han CHD patients: GA genotype mortality 14 deaths (26.9%) vs GG genotype 12 deaths (4.7%), p=<0.001). CDC27 rs11570579 polymorphism was associated with decreased CHD susceptibility in Uyghur patients (aOR 0.66), and rs11570488 GA genotype was linked to significantly higher pulmonary artery pressure, more cardiac remodeling, and increased 8-year mortality compared to GG genotype in CHD patients with pulmonary hypertension.