Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia
作者： Jingchun Chen , Grace Lee , Ayman H Fanous , Zhongming Zhao , Peilin Jia
DOI: 10.1016/J.SCHRES.2011.06.023
关键词: Genome-wide association study 、 Biology 、 Haplotype 、 Single-nucleotide polymorphism 、 Linkage disequilibrium 、 Genetics 、 Locus (genetics) 、 Genetic association 、 Allele frequency 、 Genetic linkage
摘要: We conducted data-mining analyses of genome wide association (GWA) studies the CATIE and MGS-GAIN datasets, found 13 markers in two physically linked genes, PTPN21 EML5, showing nominally significant with schizophrenia. Linkage disequilibrium (LD) analysis indicated that all 7 from shared high LD (r(2)>0.8), including rs2274736 rs2401751, non-synonymous most signals (rs2401751, P=1.10 × 10(-3) rs2274736, P=1.21 10(-3)). In a meta-analysis replication datasets total 13,940 subjects, we are significantly associated schizophrenia (rs2274736, OR=0.92, 95% CI: 0.86-0.97, P=5.45 P=5.29 One SNP (rs7147796) EML5 is also disease (OR=1.08, 1.02-1.14, P=6.43 These 3 remain after Bonferroni correction. Furthermore, haplotype conditioned observed between rs2274736/rs2401751 rs7147796 statistically independent. Given results 2 schizophrenia, further investigation this locus warranted.
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