Dataset Information

Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.

ABSTRACT: Congenital heart defects (CHDs) are the most common fetal defects and the most important cause of child mortality and morbidity.To investigate the association between growth/differentiation factor 1 (GDF1) polymorphisms and fetal CHDs, by evaluating the association of GDF1 rs4808863 with fetal CHDs.A case-control study.Beijing, China.We selected 124 fetuses with a CHD and a normal karyotype and normal array-based comparative genomic hybridisation analysis and compared them with 124 normal fetuses matched for gestational age and sex. Fetuses with a CHD, from 20 to 32 weeks of gestation were included. Fetuses with any chromosomal abnormalities, and fetuses from multiple pregnancies and those carried by pregnant women with chronic diseases, were excluded from this research. DNA extraction and genotyping were carried out for all cases to investigate the genotype distributions of GDF1 rs4808863.A significant difference was noted for the CT phenotype of GDF1 rs4808863 between the controls and the fetuses with CHDs using homozygote and heterozygote comparisons. The minor allele (T allele) of GDF1 rs4808863 was associated with an increased risk of CHD (p<0.05). A statistically significant difference between controls and fetuses with CHDs was noted in a comparison with the mutation genotype CT+TT and wild-type genotype CC (p<0.05) using dominant modal analysis. After stratification analysis, the CT phenotype, the minor allele (T allele) and the mutation genotype CT+TT of the rs4808863 polymorphism were associated with atrioventricular septal defect (AVSD), left ventricular outflow tract obstruction (LVOTO) and left-right laterality defects (p<0.05).Our results suggest that the GDF1 rs4808863 polymorphism contributes to an increased risk of fetal CHDs, especially the subtypes of AVSD, LVOTO and left-right laterality defects.

SUBMITTER: Zhang J

PROVIDER: S-EPMC4679941 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.

Zhang Juan J Wu Qingqing Q Wang Li L Li Xiaofei X Ma Yuqing Y Yao Ling L

BMJ open 20151211 12

<h4>Background</h4>Congenital heart defects (CHDs) are the most common fetal defects and the most important cause of child mortality and morbidity.<h4>Objective</h4>To investigate the association between growth/differentiation factor 1 (GDF1) polymorphisms and fetal CHDs, by evaluating the association of GDF1 rs4808863 with fetal CHDs.<h4>Design</h4>A case-control study.<h4>Setting</h4>Beijing, China.<h4>Participants</h4>We selected 124 fetuses with a CHD and a normal karyotype and normal array- ...[more]

PMID: 26656983

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Project description:BackgroundCongenital Heart diseases (CHDs) account for 1/3rd of all congenital birth defects. Etiopathogenesis of CHDs remain elusive despite extensive investigations globally. Phenotypic heterogeneity witnessed in this developmental disorder reiterate gene-environment interactions with periconceptional factors as risk conferring; and genetic analysis of both sporadic and familial forms of CHD suggest its multigenic basis. Significant association of de novo and inherited variants have been observed. Approximately 1/5th of CHDs are documented in the ethnically distinct Indian population but genetic insights have been very limited. This pilot case-control based association study was undertaken to investigate the status of Caucasian SNPs in a north Indian cohort.MethodA total of 306 CHD cases sub-classified into n = 198 acyanotic and n = 108 cyanotic types were recruited from a dedicated tertiary paediatric cardiac centre in Palwal, Haryana. 23 SNPs primarily prioritized from Genome-wide association studies (GWAS) on Caucasians were genotyped using Agena MassARRAY Technology and test of association was performed with adequately numbered controls.ResultsFifty percent of the studied SNPs were substantially associated in either allelic, genotypic or sub-phenotype categories validating their strong correlation with disease manifestation. Of note, strongest allelic association was observed for rs73118372 in CRELD1 (p < 0.0001) on Chr3, rs28711516 in MYH6 (p = 0.00083) and rs735712 in MYH7 (p = 0.0009) both on Chr 14 and were also significantly associated with acyanotic, and cyanotic categories separately. rs28711516 (p = 0.003) and rs735712 (p = 0.002) also showed genotypic association. Strongest association was observed with rs735712(p = 0.003) in VSD and maximum association was observed for ASD sub-phenotypes.ConclusionsCaucasian findings were partly replicated in the north Indian population. The findings suggest the contribution of genetic, environmental and sociodemographic factors, warranting continued investigations in this study population.

Project description:BackgroundThorium is ubiquitous in the environment and its relationship with birth defects is still under discussion. This study aimed to investigate the associations of maternal exposure to thorium with risk of neural tube defects (NTDs) by using a case-control study, as well as the relationship between thorium exposure and the indoor air pollution from coal combustion.MethodsThis study was conducted in 11 local healthcare hospitals during 2003-2007 in Shanxi and Hebei provinces, China. A total of 774 mothers were included as participants who delivering 263 fetuses with NTDs including 123 with anencephaly, 115 with spina bifida, 18 with encephalocele, and 7 other NTD subtypes (cases), and 511 health fetuses without NTDs (controls). Their hair samples were collected as close as to the occipital posterior scalp, of which those grew from 3 months before to 3 months after conception was cut to measure the thorium concentration by inductively coupled plasma-mass spectrometry.ResultsWe found a higher hair thorium concentration in the total NTD cases with 0.901 (0.588-1.382) ng/g hair [median (inter-quartile range)] than that in the controls with a value of 0.621 (0.334-1.058) ng/g hair. Similar results were found for the three concerned NTD subtypes. Maternal hair thorium concentration above its median of the controls was associated with an increased risk of the total NTDs with an adjusted odds ratio of 1.80 [95% confidence interval (CI), 1.23-2.63)] by adjusting for all confounders. There was obvious dose-response relationship between maternal hair thorium concentration and the risk of total NTDs, as well as their two subtypes (i.e. anencephaly and spina bifida). Maternal hair thorium concentration was positive associated with their exposure level to indoor air pollution from coal combustion during cooking.ConclusionsOverall, our findings revealed that maternal periconceptional thorium exposure was associated with the risk of NTDs in North China. Reducing the coal usage in the household cooking activities may decrease maternal thorium exposure level.

Dataset Information

Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.

Publications

Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.

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