title: Characterization of Transcriptional Repressor Gene MSX1 Variations for Possible Associations with Congenital Heart Diseases.
abstract: BACKGROUND
  The human heart consists of several cell types with distinct lineage origins. Interactions between these cardiac progenitors are very important for heart formation. The muscle segment homeobox gene family plays a key role in the cell morphogenesis and growth, controlled cellular proliferation, differentiation, and apoptosis, but the relationships between the genetic abnormalities and CHD phenotypes still remain largely unknown. The aim of this work was to evaluate variations in MSX1 and MSX2 for their possible associations with CHD.
  
  
  METHODS
  We sequenced the MSX1 and MSX2 genes for 300 Chinese Han CHD patients and 400 normal controls and identified the variations. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 19.0). The Hardy-Weinberg equilibrium test of the population was carried out using the online software OEGE.
  
  
  RESULTS
  Six variations rs4647952, rs2048152, rs4242182, rs61739543, rs111542301 and rs3087539 were identified in the MSX2 gene, but the genetic heterozygosity of those SNPs was very low. In contrast, the genetic heterozygosity of two variations rs3821949 near the 5'UTR and rs12532 within 3'UTR of the MSX1 gene was considerably high. Statistical analyses showed that rs3821949 and rs12532 were associated with the risk of CHD (specifically VSD).
  
  
  CONCLUSIONS
  The SNPs rs3821949 and rs12532 in the MSX1 gene were associated with CHD in Chinese Han populations.
authors.affiliation: Genomics Research Center (one of the State-Province Key Laboratory of Biopharmaceutical Engineering, China), Harbin Medical University, Harbin, China.|Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Heilongjiang, China.
authors.forename: Fei-Feng
authors.initials: FF
authors.lastname: Li
authors.affiliation: Department of Cardiology, the Fourth Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Han
authors.affiliation: Department of Cardiology, the Fourth Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Shuai
authors.initials: S
authors.lastname: Shi
authors.affiliation: Genomics Research Center (one of the State-Province Key Laboratory of Biopharmaceutical Engineering, China), Harbin Medical University, Harbin, China.
authors.forename: Xia
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Neurology, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Xi-Dong
authors.initials: XD
authors.lastname: Zhu
authors.affiliation: Intensive care unit, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Department of Neonatalogy, the Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Qing-Liang
authors.initials: QL
authors.lastname: Shao
authors.affiliation: Department of Cardiology, the Fourth Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Xue-Qi
authors.initials: XQ
authors.lastname: Li
authors.affiliation: Genomics Research Center (one of the State-Province Key Laboratory of Biopharmaceutical Engineering, China), Harbin Medical University, Harbin, China.|Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Heilongjiang, China.|Department of Microbiology, Immunology and Infectious Diseases, University of Calgary, Calgary, Canada.
authors.forename: Shu-Lin
authors.initials: SL
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D002454:Cell Differentiation / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006330:Heart Defects, Congenital / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D018398:Homeodomain Proteins; D051957:MSX1 Transcription Factor; C484083:MSX1 protein, human; C084119:MSX2 protein