title: Association Between Sequence Variations in RCAN1 Promoter and the Risk of Sporadic Congenital Heart Disease in a Chinese Population.
abstract: The pathogenesis of congenital heart disease (CHD) is unclear. There is a high incidence of CHD in Down syndrome, in which RCAN1 (regulator of calcineurin 1) overexpression is observed. However, whether RCAN1 plays an important role in non-syndromic CHD is unknown. This study investigates the relationship between sequence variations in the RCAN1 promoter and sporadic CHD. This was a case-control study in which the RCAN1 promoter was cloned and sequenced in 128 CHD patients (median age 1.1 year) and 150 normal controls (median age 3.0 year). No mutation sites had been identified in this research. Three single-nucleotide (C to T) polymorphisms were detected: rs193289374, rs149048873 and rs143081213. The polymorphisms were not associated with CHD risk according to a logistic regression analysis. Functional assays in vitro showed that compared with the wild-type genotype, the rs149048873 polymorphism decreased, and the rs143081213 increased, the RCAN1 promoter activity, though the rs193289374 polymorphism had no effect. In conclusion, the sequence variations in RCAN1 promoter are not major genetic factors involved in sporadic CHD, at least in the current research population.
authors: Department of Thoracic and Cardiovascular Surgery, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors: Xiaoyong
authors: X
authors: Li
authors: Department of Thoracic and Cardiovascular Surgery, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors: Gang
authors: G
authors: Wang
authors: Department of Thoracic and Cardiovascular Surgery, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors: Yong
authors: Y
authors: An
authors: Department of Thoracic and Cardiovascular Surgery, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors: Hongbo
authors: H
authors: Li
authors: Department of Thoracic and Cardiovascular Surgery, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
authors: Yonggang
authors: Y
authors: Li
authors: Department of Thoracic and Cardiovascular Surgery, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China. sinohenry@sina.cn.
authors: Chun
authors: C
authors: Wu
mesh_terms: D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D004268:DNA-Binding Proteins; D005260:Female; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012307:Risk Factors
chemical_list: D004268:DNA-Binding Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009124:Muscle Proteins; C108612:RCAN1 protein, human
keywords: Congenital heart disease; Down syndrome; Mutation; Polymorphism; Promoter; RCAN1