title: Replication study confirms link between TSPAN18 mutation and schizophrenia in Han Chinese.
abstract: Schizophrenia (SCZ) is a severe psychiatric disorder associated with many different risk factors, both genetic and environmental. A recent genome-wide association study (GWAS) of Han Chinese identified three single-nucleotide polymorphisms (SNPs rs11038167, rs11038172, and rs835784) in the tetraspanins gene TSPAN18 as possible susceptibility loci for schizophrenia. Hoping to validate these findings, we conducted a case-control study of Han Chinese with 1093 schizophrenia cases and 1022 healthy controls. Using the LDR-PCR method to genotype polymorphisms in TSPAN18, we found no significant differences (P>0.05) between patients and controls in either the allele or genotype frequency of the SNPs rs11038167 and rs11038172. We did find, however, that the frequency of the 'A' allele of SNP rs835784 is significantly higher in patients than in controls. We further observed a significant association (OR= 1.197, 95%CI= 1.047-1.369) between risk for SCZ and this 'A' allele. These results confirm the significant association, in Han Chinese populations, of increased SCZ risk and the variant of the TSPAN18 gene containing the 'A' allele of SNP rs835784.
authors.affiliation: Wuxi Mental Health Center, Wuxi, Jiangsu Province, China.
authors.forename: Jianmin
authors.initials: J
authors.lastname: Yuan
authors.forename: Chunhui
authors.initials: C
authors.lastname: Jin
authors.forename: Hai-De
authors.initials: HD
authors.lastname: Qin
authors.forename: Jidong
authors.initials: J
authors.lastname: Wang
authors.forename: Weiwei
authors.initials: W
authors.lastname: Sha
authors.forename: Mingzhong
authors.initials: M
authors.lastname: Wang
authors.forename: Yunbiao
authors.initials: Y
authors.lastname: Zhang
authors.forename: Fuquan
authors.initials: F
authors.lastname: Zhang
authors.forename: Jijiang
authors.initials: J
authors.lastname: Li
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Li
authors.forename: Shui
authors.initials: S
authors.lastname: Yu
authors.forename: Shuguang
authors.initials: S
authors.lastname: Qi
authors.forename: Yin Yao
authors.initials: YY
authors.lastname: Shugart
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D012559:Schizophrenia / Q000235:genetics*; D059470:Tetraspanins / Q000235:genetics*; D055815:Young Adult
chemical_list: C556852:TSPAN18 protein, human; D059470:Tetraspanins