title: No association of functional variant in pri-miR-218 and risk of congenital heart disease in a Chinese population.
abstract: BACKGROUND
  MiR-218 plays an important role in heart development in zebrafish. pri-miR-218 rs11134527 variant is associated with cervical cancer carcinogenesis. Therefore, we hypothesized that single nucleotide polymorphism (SNPs) in pri-miR-218 might influence susceptibility to sporadic congenital heart disease (CHD).
  
  
  RESULTS
  We conducted a case-control study of CHD in a Chinese population to test our hypothesis by sequencing and genotyping pri-miR-218 in 1116 CHD cases and 1219 non-CHD controls. We identified one SNP rs11134527 located in pri-miR-218 sequence. Logistic regression analyses showed that there was no significant association in genotype and allele frequencies of pri-miR-218 rs11134527 A/G polymorphism between CHD cases in overall or various subtypes and the control group. However, real-time PCR analysis showed that rs11134527 allele G significantly increased mature miR-218 expression. In vitro binding assays further revealed that the rs11134527 variant affects miR-218-mediated regulation of Robo1.
  
  
  CONCLUSIONS
  This is the first study to investigate the relationship between miR-218 and CHD cases. Our results demonstrate that the functional variant rs11134527 in pri-miR-218 has no major role in genetic susceptibility to sporadic CHD, at least in the population studied here.
authors.affiliation: Department of Genetics, National Research Institute for Family Planning, Beijing, China.
authors.forename: Xiaobo
authors.initials: X
authors.lastname: Gao
authors.forename: Liping
authors.initials: L
authors.lastname: Yang
authors.forename: Yan
authors.initials: Y
authors.lastname: Ma
authors.forename: Juhua
authors.initials: J
authors.lastname: Yang
authors.forename: Guican
authors.initials: G
authors.lastname: Zhang
authors.forename: Guoying
authors.initials: G
authors.lastname: Huang
authors.forename: Qiuyu
authors.initials: Q
authors.lastname: Huang
authors.forename: Liangwan
authors.initials: L
authors.lastname: Chen
authors.forename: Fangmeng
authors.initials: F
authors.lastname: Fu
authors.forename: Yandan
authors.initials: Y
authors.lastname: Chen
authors.forename: Dongmei
authors.initials: D
authors.lastname: Su
authors.forename: Yi
authors.initials: Y
authors.lastname: Dong
authors.forename: Xu
authors.initials: X
authors.lastname: Ma
authors.forename: Cailing
authors.initials: C
authors.lastname: Lu
authors.forename: Xiaozhong
authors.initials: X
authors.lastname: Peng
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D015870:Gene Expression; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006330:Heart Defects, Congenital / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D035683:MicroRNAs / Q000737:chemistry / Q000235:genetics*; D009690:Nucleic Acid Conformation; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D014162:Transfection
chemical_list: C547471:MIRN218 microRNA, human; D035683:MicroRNAs