Xiao Xiao, Li Ming
Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, United States.
Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, MD, United States.
Schizophr Res. 2016 Apr;172(1-3):75-7. doi: 10.1016/j.schres.2016.02.019. Epub 2016 Feb 18.
Schizophrenia is a highly heritable psychiatric disorder with unclear aetiology. Recent genome-wide association studies (GWAS) in European populations have reported numerous susceptibility variants, while GWAS in East Asians also identified several risk loci but with fewer independent replications. Here we focus on nine single nucleotide polymorphisms (SNPs) which have shown genome-wide significant associations with schizophrenia in previous Han Chinese GWAS, and we tend to replicate the associations in four independent samples of East Asian origin including a total of 3977 cases and 5589 controls. The results showed that rs10489202 in MPC2 (BRP44) is significantly associated with schizophrenia in these East Asian replication samples (one-tailed P=5.75×10(-3), OR=1.12), and further meta-analysis after including previous GWAS data yielded a genome-wide significant association (two-tailed P=1.11×10(-10), OR=1.19), adding further support for the involvement of this locus in the genetic risk of schizophrenia, and future studies regarding the underlying molecular mechanisms of the risk association are necessary.
精神分裂症是一种病因不明的高度遗传性精神疾病。近期在欧洲人群中开展的全基因组关联研究（GWAS）报告了众多易感变异，而东亚人群的GWAS也鉴定出了若干风险位点，但独立重复验证的较少。在此，我们聚焦于9个单核苷酸多态性（SNP），这些SNP在既往汉族人群的GWAS中显示出与精神分裂症存在全基因组显著关联，我们试图在4个东亚裔独立样本（共3977例病例和5589例对照）中重复这些关联。结果显示，MPC2（BRP44）中的rs10489202在这些东亚重复样本中与精神分裂症显著相关（单尾P=5.75×10(-3)，OR=1.12），纳入既往GWAS数据后的进一步荟萃分析产生了全基因组显著关联（双尾P=1.11×10(-10)，OR=1.19），进一步支持了该位点参与精神分裂症遗传风险，有必要对风险关联的潜在分子机制开展未来研究。
