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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

DNA sequence chromatograms of the rs1049007, rs235768 and rs17563 single nucleotide polymorphisms. (A) rs1049007; (B) rs235768; (C) rs17563. Arrows indicate the sites of variation.
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f2-mmr-14-02-1459: DNA sequence chromatograms of the rs1049007, rs235768 and rs17563 single nucleotide polymorphisms. (A) rs1049007; (B) rs235768; (C) rs17563. Arrows indicate the sites of variation.

Mentions: Whole genomic DNA was extracted from peripheral blood leukocytes using a QIAamp DNA Blood Mini Kit (cat. no. 51104; Qiagen, Hilden, Germany) (28). The genotypes for the rs1049007, rs235768 and rs17563 SNPs associated with the BMP-2 and -4 genes, respectively (Fig. 1), were determined using a two stage method. First, rs1049007, rs235768 and rs17563 (Table II) were amplified using standard procedures (2,6,29), following which the PCR products were sequenced (Genewiz, Inc., South Plainfield, NJ, USA) to determine the genotype (Fig. 2). The statistical analyses were performed using χ2 tests (descriptive statistic crosstalk) to calculate the odds ratios and P values, implemented using SPSS software (version 13.0; SPSS, Inc., Chicago, IL, USA). In addition, Online Encyclopedia for Genetic Epidemiology studies (OEGE; http://www.oege.org/software) online software was used to perform the Hardy Weinberg equilibrium test for the CHD and control populations.


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)

DNA sequence chromatograms of the rs1049007, rs235768 and rs17563 single nucleotide polymorphisms. (A) rs1049007; (B) rs235768; (C) rs17563. Arrows indicate the sites of variation.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f2-mmr-14-02-1459: DNA sequence chromatograms of the rs1049007, rs235768 and rs17563 single nucleotide polymorphisms. (A) rs1049007; (B) rs235768; (C) rs17563. Arrows indicate the sites of variation.
Mentions: Whole genomic DNA was extracted from peripheral blood leukocytes using a QIAamp DNA Blood Mini Kit (cat. no. 51104; Qiagen, Hilden, Germany) (28). The genotypes for the rs1049007, rs235768 and rs17563 SNPs associated with the BMP-2 and -4 genes, respectively (Fig. 1), were determined using a two stage method. First, rs1049007, rs235768 and rs17563 (Table II) were amplified using standard procedures (2,6,29), following which the PCR products were sequenced (Genewiz, Inc., South Plainfield, NJ, USA) to determine the genotype (Fig. 2). The statistical analyses were performed using χ2 tests (descriptive statistic crosstalk) to calculate the odds ratios and P values, implemented using SPSS software (version 13.0; SPSS, Inc., Chicago, IL, USA). In addition, Online Encyclopedia for Genetic Epidemiology studies (OEGE; http://www.oege.org/software) online software was used to perform the Hardy Weinberg equilibrium test for the CHD and control populations.

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