Association of CDC42 gene polymorphisms with Pulmonary arterial pressure among patients with Congenital heart disease.
10.3760/cma.j.cn511374-20250117-00037
- Author:
Teng YUAN
1
;
Feng ZHU
;
Ren TIAN
;
Yunxia LI
;
Aikebai AISAN
;
Tunike MAHESHATI
;
You CHEN
Author Information
1. Department of Cardiology, the First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, China. donny666@sina.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Male;
Female;
Heart Defects, Congenital/physiopathology*;
Polymorphism, Single Nucleotide;
cdc42 GTP-Binding Protein/genetics*;
Adult;
Child;
Genotype;
Adolescent;
Child, Preschool;
Genetic Predisposition to Disease;
Pulmonary Artery/physiopathology*
- From:
Chinese Journal of Medical Genetics
2025;42(9):1053-1060
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the association of single nucleotide polymorphisms (SNP) of the cell division cycle 42 (CDC42) gene with Pulmonary artery systolic pressure (PASP) among patients with Congenital heart disease (CHD).
METHODS:In this observational study, clinical data and blood samples were collected from 579 CHD patients with left-to-right shunt who presented to our hospital between January 2012 and January 2017. SNPs of the CDC42 gene were genotyped using an improved multiple ligase detection reaction. Multiple linear regression was applied to evaluate the association of CDC42 gene variants with PASP. This study was approved by the Medical Ethics Committee of the First Affiliated Hospital of Xinjiang Medical University (Ethics No.: 20180222-102).
RESULTS:Polymorphisms at rs2501256 and rs34896897 of the CDC42 gene were significantly associated with PASP. Compared with the CC genotype at rs2501256, TT and CT carriers displayed higher PASP [TT vs. CC: B (95%CI) = 4.01 (1.95, 6.07), P < 0.001; CT vs. CC: B (95%CI) = 2.91 (0.63, 5.19), P < 0.001]. Similarly, GG and GA genotypes at rs34896897 were associated with higher PASP compared to the AA genotype [GG vs. AA: B (95%CI) = 26.15 (20.45, 31.84), P < 0.001; GA vs. AA: B (95%CI) = 7.19 (4.31, 10.08), P < 0.001]. Genetic model analyses demonstrated significant differences for both rs2501256 and rs34896897 under dominant, additive, and recessive models (P < 0.05). TT carriers at rs2501256 exhibited larger left-and right-atrial diameters, whereas GG carriers at rs34896897 showed greater right-atrial and right-ventricular end-diastolic dimensions. Subgroup analyses revealed no association between rs2501256 and PASP in males, individuals younger than 18 years, Uyghur ethnicity, or those with ventricular septal defects.
CONCLUSION:CHD patients carrying the minor alleles of rs2501256 and rs34896897 in the CDC42 gene present higher incidence of PASP compared to those carrying the common alleles.
