title: The NFKB1 -94 ATTG insertion/deletion polymorphism (rs28362491) contributes to the susceptibility of congenital heart disease in a Chinese population.
abstract: Congenital heart disease (CHD) is the most frequently occurring congenital disorder in newborns and is the most frequent cause of infant death from birth defects. Human genetic studies have identified that numerous genes encoding transcription factors that regulate specific events in heart development are responsible for inherited and sporadic CHD. Nuclear factor-kappa B (NF-κB) is a major transcription regulator of immune response, apoptosis and cell-growth control genes. The aim of this study was to investigate whether the functional -94 insertion/deletion ATTG polymorphism (rs28362491) in the promoter of nuclear factor κB gene (NFKB1) is associated with susceptibility to CHD. Polymerase chain reaction (PCR)-polyacrylamide gel electrophoresis (PAGE) method was used to genotype rs28362491 in 122 atrial septal defect (ASD) patients, 114 ventricular septal defect (VSD) patients, and 412 controls. The frequencies of II (Insertion/Insertion) genotype in the ASD and VSD patients were significantly higher than that of controls (p=0.004 for ASD Vs. controls, and p=0.009 for VSD Vs. controls, respectively), and the frequencies for I allele in CHD patients were also significantly higher than that in controls (p=0.01 for ASD Vs. controls, and p=0.009 for VSD Vs. controls, respectively). This study suggests that the functional -94 insertion/deletion ATTG polymorphism in the promoter of NFKB1 is associated with CHD.
authors.affiliation: Key Laboratory of Birth Defects and Reproductive Health, Chongqing, 400020, PR China.
authors.forename: Danyan
authors.initials: D
authors.lastname: Zhang
authors.forename: Lianbing
authors.initials: L
authors.lastname: Li
authors.forename: Yijian
authors.initials: Y
authors.lastname: Zhu
authors.forename: Letian
authors.initials: L
authors.lastname: Zhao
authors.forename: Ling
authors.initials: L
authors.lastname: Wan
authors.forename: Jing
authors.initials: J
authors.lastname: Lv
authors.forename: Xinsheng
authors.initials: X
authors.lastname: Li
authors.forename: Pei
authors.initials: P
authors.lastname: Huang
authors.forename: Li
authors.initials: L
authors.lastname: Wei
authors.forename: Mingfu
authors.initials: M
authors.lastname: Ma
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005838:Genotype; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D054643:INDEL Mutation / Q000502:physiology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D052002:NF-kappa B p50 Subunit / Q000235:genetics*
chemical_list: D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human