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Characterization of human bone morphogenetic protein gene variants for possible roles in congenital heart disease.

Li FF, Deng X, Zhou J, Yan P, Zhao EY, Liu SL - Mol Med Rep (2016)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Genomics Research Center (one of the State‑Key Laboratory of Biopharmaceutical Engineering), Harbin Medical University, Harbin, Heilongjiang 150081, P.R. China.

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.

No MeSH data available.


Related in: MedlinePlus

Multiple-sequence alignment of BMP-2 and -4 from birds, fish and mammals, including Homo sapiens, Pan troglodytes and Macaca mulatta. Conservation of 190Ser and 152Val residues in BMP 2 and 4, respectively, were high and in a highly conserved regions. BMP, bone morphogenetic protein.
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f3-mmr-14-02-1459: Multiple-sequence alignment of BMP-2 and -4 from birds, fish and mammals, including Homo sapiens, Pan troglodytes and Macaca mulatta. Conservation of 190Ser and 152Val residues in BMP 2 and 4, respectively, were high and in a highly conserved regions. BMP, bone morphogenetic protein.

Mentions: The comparison of the BMP-2 and -4 protein sequences between different species included birds, fishes, rodents and mammals, including Homo sapiens, Pan troglodytes and Macaca mulatta. The results of the multiple sequence alignment analysis showed that the conservation of the rs235768 and rs17563 variations were high; the rs1049007 variation did not alter the protein sequence. The conservation of the 190Ser and 152Val residues in BMP-2 and -4, respectively, were high and were located in highly conserved regions of the proteins (Fig. 3).


Characterization of human bone morphogenetic protein gene variants for possible roles in congenital heart disease.

Li FF, Deng X, Zhou J, Yan P, Zhao EY, Liu SL - Mol Med Rep (2016)

Multiple-sequence alignment of BMP-2 and -4 from birds, fish and mammals, including Homo sapiens, Pan troglodytes and Macaca mulatta. Conservation of 190Ser and 152Val residues in BMP 2 and 4, respectively, were high and in a highly conserved regions. BMP, bone morphogenetic protein.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4940093&req=5

f3-mmr-14-02-1459: Multiple-sequence alignment of BMP-2 and -4 from birds, fish and mammals, including Homo sapiens, Pan troglodytes and Macaca mulatta. Conservation of 190Ser and 152Val residues in BMP 2 and 4, respectively, were high and in a highly conserved regions. BMP, bone morphogenetic protein.
Mentions: The comparison of the BMP-2 and -4 protein sequences between different species included birds, fishes, rodents and mammals, including Homo sapiens, Pan troglodytes and Macaca mulatta. The results of the multiple sequence alignment analysis showed that the conservation of the rs235768 and rs17563 variations were high; the rs1049007 variation did not alter the protein sequence. The conservation of the 190Ser and 152Val residues in BMP-2 and -4, respectively, were high and were located in highly conserved regions of the proteins (Fig. 3).

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Genomics Research Center (one of the State‑Key Laboratory of Biopharmaceutical Engineering), Harbin Medical University, Harbin, Heilongjiang 150081, P.R. China.

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.

No MeSH data available.


Related in: MedlinePlus