- 作者：Satoshi Okazaki ; Yuichiro Watanabe ; Akitoyo Hishimoto ; Toru Sasada ; Kentaro Mouri ; Kyoichi Shiroiwa ; Noriomi Eguchi ; Woraphat Ratta-Apha ; Ikuo Otsuka ; Ayako Nunokawa ; Naoshi Kaneko ; Masako Shibuya ; Toshiyuki Someya ; Osamu Shirakawa ; Ichiro Sora
- 关键词：eQTL ; expression quantitative trait loci ; GWAS ; genome-wide association study ; HWE ; Hardy&ndash ; Weinberg equilibrium ; LD ; linkage disequilibrium ; IL-19 ; interleukin-19 ; SNP ; single nucleotide polymorphism
- 刊名：Progress in Neuro-Psychopharmacology and Biological Psychiatry
- 出版年：3 April, 2014
- 年：2014
- 卷：50
- 期：Complete
- 页码：151-156
- 全文大小：633 K
Background
Genome-wide association studies (GWAS) and gene expression analyses have revealed that single nucleotide polymorphisms (SNPs) associated with multifactorial diseases, such as schizophrenia, are significantly more likely to be associated with expression quantitative trait loci (eQTL). It was recently suggested that an immune system imbalance plays an important role in the pathogenesis of schizophrenia. Interleukin-19 is a novel cytokine that may play multiple roles in immune regulation and various diseases.Method
We selected eight tag SNPs in the eQTL of the IL-19 gene. Seven of the SNPs are putative cis-acting SNPs. Then, we conducted a case-control study using two independent samples. The first sample comprised 567 schizophrenia patients and 710 controls, and the second sample comprised 677 schizophrenia patients and 667 controls.
Result
We identified the TGAA haplotype as being significantly associated with schizophrenia (p = 0.0036 and corrected p = 0.0264), although a combined analysis of the TGAA haplotype with the replication samples exhibited a nominally significant difference (p = 0.022 and corrected p = 0.235).
Conclusions
These results suggest that the IL-19 gene might slightly contribute to the genetic risk of schizophrenia. Thus, further research on the association of eQTL SNPs with schizophrenia is warranted.