title: Characterization of human bone morphogenetic protein gene variants for possible roles in congenital heart disease.
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.
authors.affiliation: Genomics Research Center (one of the State‑Key Laboratory of Biopharmaceutical Engineering), Harbin Medical University, Harbin, Heilongjiang 150081, P.R. China.
authors.forename: Fei-Feng
authors.initials: FF
authors.lastname: Li
authors.affiliation: Genomics Research Center (one of the State‑Key Laboratory of Biopharmaceutical Engineering), Harbin Medical University, Harbin, Heilongjiang 150081, P.R. China.
authors.forename: Xia
authors.initials: X
authors.lastname: Deng
authors.affiliation: Intensive Care Unit, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150086, P.R. China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Department of Colorectal Surgery, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150086, P.R. China.
authors.forename: Peng
authors.initials: P
authors.lastname: Yan
authors.affiliation: Genomics Research Center (one of the State‑Key Laboratory of Biopharmaceutical Engineering), Harbin Medical University, Harbin, Heilongjiang 150081, P.R. China.
authors.forename: Er-Ying
authors.initials: EY
authors.lastname: Zhao
authors.affiliation: Genomics Research Center (one of the State‑Key Laboratory of Biopharmaceutical Engineering), Harbin Medical University, Harbin, Heilongjiang 150081, P.R. China.
authors.forename: Shu-Lin
authors.initials: SL
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D055396:Bone Morphogenetic Protein 2 / Q000737:chemistry / Q000235:genetics; D055415:Bone Morphogenetic Protein 4 / Q000737:chemistry / Q000235:genetics; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D017124:Conserved Sequence; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D014644:Genetic Variation; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D055396:Bone Morphogenetic Protein 2; D055415:Bone Morphogenetic Protein 4; D019485:Bone Morphogenetic Proteins