Replication Study Confirms Link between TSPAN18 Mutation and Schizophrenia in Han Chinese

Jianmin Yuan, Chunhui Jin, Hai De Qin, Jidong Wang, Weiwei Sha, Mingzhong Wang, Yunbiao Zhang, Fuquan Zhang, Jijiang Li, Jianfeng Li, Shui Yu, Shuguang Qi, Yin Yao Shugart

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22 Scopus citations


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.

Original languageEnglish (US)
Article numbere58785
JournalPLoS One
Issue number3
StatePublished - Mar 7 2013
Externally publishedYes

ASJC Scopus subject areas

  • General Agricultural and Biological Sciences
  • General Biochemistry, Genetics and Molecular Biology
  • General Medicine


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