title: [Association of thyroperoxidase gene polymorphisms with dyshormonogenesis in congenital hypothyroidism].
abstract: OBJECTIVE
  To assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).
  
  
  METHODS
  The 17 exons and flanking introns of the TPO gene from 30 randomly selected samples were sequenced for the selection of single nucleotide polymorphisms (SNPs). In 136 patients with dyshormonogenetic CH and 141 healthy controls from the same region, the selected SNPs were genotyped by polymerase chain reaction (PCR) and direct sequencing or PCR-restriction fragment length polymorphism (RFLP).
  
  
  RESULTS
  Six SNPs (rs9678281, rs376413622, rs1126797, rs4927611, rs732609 and rs1126799) were selected to determine the genotype for each sample. Among these, rs4927611 and rs732609 showed a significant difference between the two groups in both allelic and genotypic frequencies. With a recessive model of inheritance, rs732609 CC (OR=0.484, 95%CI: 0.253-0.927, P=0.04) and rs4927611 TT (OR=0.32, 95%CI: 0.112-0.915, P=0.047) were greater in the patients.
  
  
  CONCLUSIONS
  rs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.
authors.affiliation: Center of Neonatal Screening, Fujian Maternity and Children Hospital, Fujian Medical University Teaching Hospital, Fuzhou, Fujian 350001, P.R. China. fjnsczwb@163.com; hqchen_996@qq.com.
authors.forename: Yueqing
authors.initials: Y
authors.lastname: Su
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Jinfu
authors.initials: J
authors.lastname: Zhou
authors.forename: Yao
authors.initials: Y
authors.lastname: Chen
authors.forename: Hong
authors.initials: H
authors.lastname: Zhao
authors.forename: Yinglin
authors.initials: Y
authors.lastname: Zeng
authors.forename: Feng
authors.initials: F
authors.lastname: Lin
authors.forename: Honghua
authors.initials: H
authors.lastname: Zhang
authors.forename: Wenbin
authors.initials: W
authors.lastname: Zhu
authors.forename: Hanqiang
authors.initials: H
authors.lastname: Chen
mesh_terms: D000483:Alleles; D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000097:blood / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007453:Iodide Peroxidase / Q000235:genetics*; D033862:Iron-Binding Proteins / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood
chemical_list: D001324:Autoantigens; D033862:Iron-Binding Proteins; D013972:Thyrotropin; C056658:TPO protein, human; D007453:Iodide Peroxidase; D013974:Thyroxine