Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population

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• 作者：Xiang-Ting Li ; Chang-Qing Shen ; Rui Zhang ; Ji-Kui Shi ; Zong-Hong Li…
• 关键词：Transforming growth factor beta receptor 2 ; Polymorphism ; Congenital heart disease ; Congenital ventricular septal defect ; Endothelial–mesenchymal transformation
• 刊名：Pediatric Cardiology
• 出版年：2015
• 出版时间：October 2015
• 年：2015
• 卷：36
• 期：7
• 页码：1476-1482
• 全文大小：438 KB
• 参考文献：1.Alverson CJ, Strickland MJ, Gilboa SM, Correa A (2011) Maternal smoking and congenital heart defects in the Baltimore-Washington Infant Study. Pediatrics 127(3):e647–e653CrossRef PubMed
  2.Azhar M, Runyan RB, Gard C, Sanford LP, Miller ML, Andringa A et al (2009) Ligand-specific function of transforming growth factor beta in epithelial-mesenchymal transition in heart development. Dev Dyn 238(2):431-42PubMed Central CrossRef PubMed
  3.Azhar M, Brown K, Gard C, Chen H, Rajan S, Elliott DA et al (2011) Transforming growth factor Beta2 is required for valve remodeling during heart development. Dev Dyn 240(9):2127-141PubMed Central CrossRef PubMed
  4.Barnett JV, Desgrosellier JS (2003) Early events in valvulogenesis: a signaling perspective. Birth Defects Res C Embryo Today 69(1):58-2CrossRef PubMed
  5.Bettinelli AL, Mulder TJ, Funke BH, Lafferty KA, Longo SA, Niyazov DM (2013) Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. Am J Med Genet A 161A(12):3187-190CrossRef PubMed
  6.Bhowmick NA, Chytil A, Plieth D, Gorska AE, Dumont N, Shappell S et al (2004) TGF-beta signaling in fibroblasts modulates the oncogenic potential of adjacent epithelia. Science 303(5659):848-51CrossRef PubMed
  7.Boyer AS, Runyan RB (2001) TGFbeta Type III and TGFbeta Type II receptors have distinct activities during epithelial-mesenchymal cell transformation in the embryonic heart. Dev Dyn 221(4):454-59CrossRef PubMed
  8.Boyer AS, Ayerinskas II, Vincent EB, McKinney LA, Weeks DL, Runyan RB (1999) TGFbeta2 and TGFbeta3 have separate and sequential activities during epithelial-mesenchymal cell transformation in the embryonic heart. Dev Biol 208(2):530-45CrossRef PubMed
  9.Buskohl PR, Sun MJ, Thompson RP, Butcher JT (2012) Serotonin potentiates transforming growth factor-beta3 induced biomechanical remodeling in avian embryonic atrioventricular valves. PLoS One 7(8):e42527PubMed Central CrossRef PubMed
  10.Butcher JT, Markwald RR (2007) Valvulogenesis: the moving target. Philos Trans R Soc Lond B Biol Sci 362(1484):1489-503PubMed Central CrossRef PubMed
  11.Cheifetz S, Andres JL, Massague J (1988) The transforming growth factor-beta receptor type III is a membrane proteoglycan. Domain structure of the receptor. J Biol Chem 263(32):16984-6991PubMed
  12.Chiu YN, Norris RA, Mahler G, Recknagel A, Butcher JT (2010) Transforming growth factor beta, bone morphogenetic protein, and vascular endothelial growth factor mediate phenotype maturation and tissue remodeling by embryonic valve progenitor cells: relevance for heart valve tissue engineering. Tissue Eng Part A 16(11):3375-383PubMed Central CrossRef PubMed
  13.Chua KN, Poon KL, Lim J, Sim WJ, Huang RY, Thiery JP (2011) Target cell movement in tumor and cardiovascular diseases based on the epithelial-mesenchymal transition concept. Adv Drug Deliv Rev 63(8):558-67CrossRef PubMed
  14.Correa A, Marcinkevage J (2013) Prepregnancy obesity and the risk of birth defects: an update. Nutr Rev 71(Suppl 1):S68–S77CrossRef PubMed
  15.de Caestecker M (2004) The transforming growth factor-beta superfamily of receptors. Cytokine Growth Factor Rev 15(1):1-1CrossRef PubMed
  16.Dolk H, Loane M, Garne E, European Surveillance of Congenital Anomalies Working G (2011) Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005. Circulation 123(8):841-49CrossRef PubMed
  17.Fahed AC, Gelb BD, Seidman JG, Seidman CE (2013) Genetics of congenital heart disease: the glass half empty. Circ Res 112(4):707-20CrossRef PubMed
  18.Girdauskas E, Schulz S, Borger MA, Mierzwa M, Kuntze T (2011) Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection. Ann Thorac Surg 91(5):e70–e71CrossRef PubMed
  19.Glas J, Seiderer J, Bues S, Stallhofer J, Fries C, Olszak T et al (2013) IRGM variants and susceptibility to inflammatory bowel disease in the German population. PLoS One 8(1):e54338PubMed Central CrossRef PubMed
  20.Greutmann M, Tobler D (2012) Changing epidemiology and mortality in adult congenital heart disease: looking into the future. Future Cardiol 8(2):171-77CrossRef PubMed
  21.Gutcher I, Donkor MK, Ma Q, Rudensky AY, Flavell RA, Li MO (2011) Autocrine transforming growth factor-beta1 promotes in vivo Th17 cell differentiation. Immunity 34(3):396-08PubMed Central CrossRef PubMed
  22.Heldin CH, Miyazono K, ten Dijke P (1997) TGF-beta signalling from cell membrane to nucleus through SMAD proteins. Nature 390(6659):465-71CrossRef PubMed
  23.Hoffman J (2013) The global burden of congenital heart disease. Cardiovasc J Afr 24(4):141-45PubMed Central CrossRef PubMed
  24.Hu Z, Shi Y, Mo X, Xu J, Zhao B, Lin Y et al (2013) A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. Nat Genet 45(7):818-21C
• 作者单位：Xiang-Ting Li (1)
  Chang-Qing Shen (2)
  Rui Zhang (1)
  Ji-Kui Shi (3)
  Zong-Hong Li (4)
  Hong-Yu Liu (4)
  Bo Sun (4)
  Kai Wang (4)
  Li-Ru Yan (4)
  
  1. Department of Cardiology, Affiliated Hospital of Jining Medical College, Jining, 272100, People’s Republic of China
  2. Department of Pediatrics, Affiliated Hospital of Jining Medical College, Jining, 272100, People’s Republic of China
  3. Department of Critical Care Medicine, Jining NO.1 People’s Hospital, No. 6 Jiankang Road, Jining, 272011, People’s Republic of China
  4. Department of Cardiac Surgery, The First Affiliated Hospital of Harbin Medical University, Harbin, 150001, People’s Republic of China
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Cardiology
  Cardiac Surgery
  Vascular Surgery
  
• 出版者：Springer New York
• ISSN：1432-1971

文摘

Transforming growth factor beta receptor 2 (TGFBR2) plays a central role in normal heart development, and we investigated whether TGFBR2 polymorphism confers the risk of congenital ventricular septal defect (CVSD). The case–control study included 115 CVSD children and 188 healthy children in a Chinese population. TGFBR2 rs6785358 polymorphism was genotyped with polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP). Enzyme-linked immunoassay (ELISA) was used to detect serum TGFBR2 levels. The genotype and allele frequency of TGFBR2 rs6785358 were significantly higher in the CVSD group than in the controls (all P < 0.05). The G allele carriers were associated with increased CVSD risk compared with the A allele carriers in CVSD group (OR 3.503, 95 % CI 2.670-.596). Stratified analysis by gender revealed that the TGFBR2 rs6785358 genotype and allele frequency were significantly different between the CVSD case and controls, in both the male subgroup and the female subgroup (all P < 0.001). The G allele carriers were more susceptible to CVSD risk than the A allele carriers in both the male subgroup (OR 9.096, 95 % CI 5.398-5.33) and the female subgroup (OR 3.148, 95 % CI 1.764-.618). Logistic regression analysis revealed that age, gender and genotype were associated with the risk of CVSD (all P < 0.05). The study findings revealed that TGFBR2 rs6785358 polymorphism contributes to CVSD susceptibility, and the G allele may increase the risk of CVSD. Keywords Transforming growth factor beta receptor 2 Polymorphism Congenital heart disease Congenital ventricular septal defect Endothelial–mesenchymal transformation