title: Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population.
abstract: BACKGROUND
  Congenital heart disease (CHD) is the most common birth abnormality, especially for sporadic CHD. However, the etiology of sporadic CHD is largely unknown. NKX2-5, the earliest sign of cardiac progenitor cell differentiation, plays a key role in cardiac morphogenesis, and the mutation of this gene can cause sporadic CHD.
  
  
  OBJECTIVE
  To investigate the association of genetic variations of NKX2-5 with sporadic CHD in Chinese Bai people.
  
  
  METHODS
  The whole 2 coding exons and flanking intron sequences of NKX2-5 gene were screened using DNA sequencing in 70 Chinese Bai patients with sporadic CHD and 136 healthy controls.
  
  
  RESULTS
  A novel heterozygous DNA sequence variant (DSV), 1433A>G, was identified in one tetralogy of Fallot (TOF) patient and one persistent left superior vena cava (PLSVC) patient, but none in controls. The frequency of single nucleotide polymorphism (SNP) rs2277923 in CHD group was significantly higher than that in control group. The allele and genotype were associated with the occurrence of CHD.
  
  
  CONCLUSIONS
  The novel DSV (1433A>G) may be relevant with TOF and PLSVC, and the SNP rs2277923 of NKX2-5 gene contributes to the risk of sporadic CHD in Chinese Bai people.
authors.affiliation: Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Cao
authors.affiliation: Liuzhou Municipal Liutie Central Hospital Liuzhou 545007, China.
authors.forename: Weixing
authors.initials: W
authors.lastname: Lan
authors.affiliation: Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China.
authors.forename: Yaxiong
authors.initials: Y
authors.lastname: Li
authors.affiliation: Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China.
authors.forename: Chuanyu
authors.initials: C
authors.lastname: Wei
authors.affiliation: Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China.
authors.forename: Honglin
authors.initials: H
authors.lastname: Zou
authors.affiliation: Yan'an Affiliated Hospital of Kunming Medical University, Kunming Medical University, Kunming Yan'an Hospital Kunming 650051, China.
authors.forename: Lihong
authors.initials: L
authors.lastname: Jiang
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006330:Heart Defects, Congenital / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors
keywords: Chinese Bai people; Congenital heart disease; NKX2-5; single nucleotide polymorphism
references.citation: J Biol Chem. 2002 Jul 5;277(27):24735-43
references.pmid: 11889119
references.citation: Annu Rev Physiol. 2006;68:97-121
references.pmid: 16460268
references.citation: BMC Med Genet. 2007 Jun 25;8:38
references.pmid: 17592645
references.citation: Int J Cardiol. 2011 Feb 3;146(3):415-6
references.pmid: 20181399
references.citation: Genes Dev. 2002 May 15;16(10):1234-46
references.pmid: 12023302
references.citation: Science. 1998 Jul 3;281(5373):108-11
references.pmid: 9651244
references.citation: Cardiovasc Pathol. 2013 Mar-Apr;22(2):141-5
references.pmid: 22959235
references.citation: Br J Nutr. 2012 Apr;107(7):1070-6
references.pmid: 21816117
references.citation: Cell. 2004 Apr 30;117(3):373-86
references.pmid: 15109497
references.citation: Gene. 2013 Jan 10;512(2):185-8
references.pmid: 23116943
references.citation: Cell Reprogram. 2011 Dec;13(6):527-37
references.pmid: 22029419
references.citation: Dev Biol. 2005 Aug 1;284(1):72-83
references.pmid: 15950213
references.citation: Balkan Med J. 2014 Mar;31(1):50-4
references.pmid: 25207167
references.citation: Cell. 2007 Mar 9;128(5):947-59
references.pmid: 17350578
references.citation: Hum Mol Genet. 2012 Jul 15;21(14):3255-63
references.pmid: 22543974
references.citation: Nat Commun. 2011 Feb 08;2:187
references.pmid: 21304516
references.citation: PLoS One. 2013 Aug 02;8(8):e70979
references.pmid: 23936479
references.citation: Circulation. 2013 Jan 1;127(1):e6-e245
references.pmid: 23239837
references.citation: Am J Prev Med. 2007 Feb;32(2):97-106
references.pmid: 17234484
references.citation: Genet Test Mol Biomarkers. 2009 Apr;13(2):159-62
references.pmid: 19371212
references.citation: Heart Lung Circ. 2013 Mar;22(3):204-10
references.pmid: 23098893
references.citation: Cell. 2012 Mar 16;148(6):1242-57
references.pmid: 22424232
references.citation: Zhonghua Liu Xing Bing Xue Za Zhi. 2005 Mar;26(3):182-6
references.pmid: 15941503
references.citation: Cell Res. 2005 Feb;15(2):97-8
references.pmid: 15740637
references.citation: Public Health Nutr. 2012 Dec;15(12):2280-6
references.pmid: 22443916
references.citation: Dev Biol. 2007 Mar 15;303(2):740-53
references.pmid: 17250822
references.citation: Circulation. 2012 Jan 24;125(3):482-90
references.pmid: 22179537
references.citation: Cell. 2007 Jun 29;129(7):1365-76
references.pmid: 17604724
references.citation: Cardiovasc Pathol. 2008 Jan-Feb;17(1):48-54
references.pmid: 18160060
references.citation: Genetica. 2010 Dec;138(11-12):1231-40
references.pmid: 21110066
references.citation: Cardiovasc Res. 2011 Jul 15;91(2):289-99
references.pmid: 21285290
references.citation: Genet Test Mol Biomarkers. 2010 Dec;14(6):873-9
references.pmid: 21091212
references.citation: Cell Res. 2012 Sep 18;23:242-253
references.pmid: 22986502
references.citation: J Clin Invest. 2004 Apr;113(8):1130-7
references.pmid: 15085192
references.citation: PLoS Genet. 2012;8(5):e1002690
references.pmid: 22589735