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Association and interaction effect of UCP2 gene polymorphisms and dietary factors with congenital heart diseases in Chinese Han population.

ABSTRACT: Congenital heart diseases (CHDs) are the most common birth defects and the leading cause of non-infectious deaths in infants, with an unknown etiology. We aimed to assess the association of genetic variations in UCP2 gene, dietary factors, and their interactions with the risk of CHDs in offspring. The hospital-based case-control study included 464 mothers of children with CHDs and 504 mothers of healthy children. The exposures of interest were maternal dietary factors in early pregnancy and UCP2 genetic variants. Logistic regression analyses were used to assess the association and interaction of UCP2 gene and dietary factors with CHDs. Our results found that the polymorphisms of UCP2 gene at rs659366 and rs660339, together with maternal dietary factors including excessive intake of pickled vegetables and smoked foods were associated with increased risks of CHDs in offspring. Regular intake of fresh meat, fish and shrimp, and milk products were associated with lower risks of CHDs in offspring. Besides, positive interaction between the dominant model of rs659366 and excessive intake of pickled vegetables was found in the additive interaction model (RERI = 1.19, P = 0.044). These findings provide the theoretical basis for gene screening and a new clue for the prevention of CHDs in offspring.

SUBMITTER: Zhang S

PROVIDER: S-EPMC8062668 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Rs2459976 in <i>ZW10</i> gene associated with congenital heart diseases in Chinese Han population.

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[Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis].

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Project description:Congenital heart disease (CHD) is the most common form of congenital human birth anomalies and a leading cause of perinatal and infant mortality. Some studies including our published genome-wide association study (GWAS) of CHD have indicated that genetic variants may contribute to the risk of CHD. Recently, Cordell et al. published a GWAS of multiple CHD phenotypes in European Caucasians and identified 3 susceptibility loci (rs870142, rs16835979 and rs6824295) for ostium secundum atrial septal defect (ASD) at chromosome 4p16. However, whether these loci at 4p16 confer the predisposition to CHD in Chinese population is unclear. In the current study, we first analyzed the associations between these 3 single nucleotide polymorphisms (SNPs) at 4p16 and CHD risk by using our existing genome-wide scan data and found all of the 3 SNPs showed significant associations with ASD in the same direction as that observed in Cordell's study, but not with other subtypes- ventricular septal defect (VSD) and ASD combined VSD. As these 3 SNPs were in high linkage disequilibrium (LD) in Chinese population, we selected one SNP with the lowest P value in our GWAS scan (rs16835979) to perform a replication study with additional 1,709 CHD cases with multiple phenotypes and 1,962 controls. The significant association was also observed only within the ASD subgroup, which was heterogeneous from other disease groups. In combined GWAS and replication samples, the minor allele of rs16835979 remained significant association with the risk of ASD (OR = 1.22, 95% CI = 1.08-1.38, P = 0.001). Our findings suggest that susceptibility loci of ASD identified from Cordell's European GWAS are generalizable to Chinese population, and such investigation may provide new insights into the roles of genetic variants in the etiology of different CHD phenotypes.

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Associations between IL-6 Variations and Congenital Heart Disease Incidence among Chinese Han People.

Project description:BACKGROUND Our research explored if Interleukin-6 (IL-6) variants held substantial connection to congenital heart disease (CHD) susceptibility among Chinese Han children. MATERIAL AND METHODS A total of 102 CHD children were recruited as the case group while 98 healthy persons were recruited as the control group. We used polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) completed genotyping for IL-6 variants rs1800795 and rs1800796. The Hardy-Weinberg equilibrium (HWE) among controls was tested using χ² analysis. Genotype and allele frequencies for variants were compared between groups. Odds ratio (OR) accompanied by 95% confidence interval (CI) reflected the potential link of IL-6 variants to CHD occurrence. RESULTS A remarkable increased trend of rs1800795 CC genotype and C allele was detected in the CHD patient group (P<0.05). Individuals carrying rs1800795 CC genotype showed higher risk for CHD (OR=3.763, 95% CI=1.162 - 12.190). In addition, rs1800795 C allele could increase CHD incidence (OR=1.766, 95% CI=1.101 - 2.832). No significant differences were detected in IL-6 gene rs1800796 polymorphism in both genotype and allele distributions between the case group and the control group (P>0.05). These associations had no significant alteration after the adjustment of age, gender, maternal smoking history, and maternal history of diabetes. CONCLUSIONS IL-6 variant rs1800795 exhibited a close relation to CHD susceptibility among Chinese Han people while the mutant C allele promoted CHD incidence. But rs1800796 variant showed no such influence.

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