title: An association study between the genetic polymorphisms within TBX1 and schizophrenia in the Chinese population.
abstract: The strong association between common psychiatric disorders and the 22q11.2 microdeletion suggests that haploinsufficiency of one or more genes in the region confers susceptibility to these disorders. Recent mouse studies have shown that the T-box 1 (TBX1) gene in the 22q11.2 region can cause prepulse inhibition (PPI) impairment in the heterozygous state. A study has also shown that phenotypic features of 22q11 deletion syndrome (22q11DS) were segregated with an inactivating mutation of TBX1 in one family, suggesting that the TBX1 gene plays a role in the pathogenesis of some psychiatric disorders. We performed an association study between three single nucleotide polymorphisms (SNPs) in the TBX1 gene and schizophrenia. However, we found no significant difference in the genotype or allele distributions between the 328 schizophrenics and 288 controls for any of the polymorphisms, nor was there any haplotype association. Our data suggest that the genetic polymorphisms within TBX1 do not confer an increased susceptibility to schizophrenia in the Chinese population.
authors.affiliation: Bio-X Center, PO Box 501, Hao Ran Building, Shanghai Jiao Tong University, 1954 Hua Shan Road, Shanghai 200030, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Ma
authors.forename: YongYong
authors.initials: Y
authors.lastname: Shi
authors.forename: Wei
authors.initials: W
authors.lastname: Tang
authors.forename: ZangDong
authors.initials: Z
authors.lastname: He
authors.forename: Ke
authors.initials: K
authors.lastname: Huang
authors.forename: ZhiQiang
authors.initials: Z
authors.lastname: Li
authors.forename: Guang
authors.initials: G
authors.lastname: He
authors.forename: GuoYin
authors.initials: G
authors.lastname: Feng
authors.forename: HuaFang
authors.initials: H
authors.lastname: Li
authors.forename: Lin
authors.initials: L
authors.lastname: He
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001923:Brain Chemistry / Q000235:genetics*; D002681:China / Q000208:ethnology; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044382:Population Groups / Q000235:genetics; D012559:Schizophrenia / Q000208:ethnology / Q000235:genetics*; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D020825:T-Box Domain Proteins; C108625:TBX1 protein, human