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Published on: August 20, 2019
Characterization of human bone morphogenetic protein gene variants for possible roles in congenital heart disease
Fei-Feng Li1, Xia Deng1, Jing Zhou2
1Genomics Research Center (one of the State‑Key Laboratory of Biopharmaceutical Engineering), Harbin Medical University, Harbin, Heilongjiang 150081, P.R. China.
Insights
Genetic variations in Bone Morphogenetic Protein (BMP)-2 and -4 were not associated with congenital heart disease (CHD) risk in the Chinese Han population. This study found no significant link between specific BMP gene polymorphisms and CHD development.
Area of Science:
- Cardiovascular Genetics
- Developmental Biology
- Molecular Medicine
Background:
- Congenital heart disease (CHD) is a significant cause of morbidity and mortality, originating from complex gene regulatory networks during embryonic development.
- Bone morphogenetic proteins (BMPs), specifically BMP-2 and BMP-4, play crucial roles in cardiogenesis by inducing key transcription factors like NKX2-5 and GATA4.
- Disruptions in BMP signaling can affect cardiac differentiation and are implicated in heart development abnormalities.
Purpose of the Study:
- To investigate the potential association between specific single nucleotide polymorphisms (SNPs) in the BMP-2 and BMP-4 genes and the risk of congenital heart disease (CHD).
- To evaluate three specific SNPs (rs1049007, rs235768, and rs17563) within the translated regions of BMP-2 and BMP-4 in a Chinese Han population.
Main Methods:
- Genotyping of three selected SNPs (rs1049007, rs235768, rs17563) in BMP-2 and BMP-4 genes.
- Case-control study design involving 230 CHD patients and 160 healthy controls from the Chinese Han population.
- Statistical analysis using the chi-squared (χ2) test and Hardy-Weinberg equilibrium assessment.
Main Results:
- No statistically significant association was found between the rs1049007, rs235768, or rs17563 genetic variations and the risk of congenital heart disease (CHD).
- P-values for the evaluated SNPs were rs1049007 (P=0.560), rs235768 (P=0.972), and rs17563 (P=0.787), indicating no significant genetic correlation.
- The study found no correlation between these BMP gene variations and CHD in the studied Chinese Han population.
Conclusions:
- The specific genetic variations rs1049007, rs235768, and rs17563 in BMP-2 are not associated with congenital heart disease (CHD) in the Chinese Han population.
- These findings suggest that common variations in these BMP-2 gene regions do not contribute to CHD susceptibility in this demographic group.
- Further research may be needed to explore other genetic or environmental factors influencing CHD development in diverse populations.
Abstract:
Congenital heart disease (CHD) is a complex illness with high rates of morbidity and mortality. In embryonic development, the heart is the first formed organ, which is strictly controlled by gene regulatory networks, including transcription factors, signaling pathways, epigenetic factors and microRNAs. Bone morphogenetic protein (BMP)-2 and -4 are essential in cardiogenesis as they can induce the expression of transcription factors, NKX2‑5 and GATA binding protein 4, which are important in the development of the heart. The inhibition of BMP‑2 and ‑4 inhibits the late expression of NKX2-5 and affects cardiac differentiation. The aim of the present study was to investigate whether BMP-2 and ‑4 variations may be associated with CHD in Chinese Han populations. The rs1049007, rs235768 and rs17563 single nucleotide polymorphisms (SNPs), which are genetic variations located within the translated region of the BMP-2 and -4, were evaluated in 230 patients with CHD from the Chinese Han population and 160 non-CHD control individuals. Statistical analyses were performed using the χ2 test, implemented using SPSS software (version 13.0). The Hardy-Weinberg equilibrium test was performed on the population using online Online Encyclopedia for Genetic Epidemiology studies software, and multiple-sequence alignments of the BMP proteins were performed using Vector NTI software. No statistically significant associations were identified between these genetic variations and the risk of CHD (rs1049007, P‑value=0.560; rs235768, P‑value=0.972; rs17563, P‑value=0.787). In addition, no correlation was found between the patients with CHD and the non‑CHD control individuals. Therefore, the rs1049007, rs235768 and rs17563 genetic variations of BMP-2 were not associated with CHD in the Chinese Han population.
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