Department of Psychiatry and Psychotherapy, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.
Department of Psychiatry, University of Indonesia, Jakarta, Indonesia.
Schizophr Res. 2013 Jun;147(1):46-52. doi: 10.1016/j.schres.2013.03.022. Epub 2013 Apr 13.
Association of rs1344706 in the ZNF804A gene (2q32.1) with schizophrenia was first reported in a genome wide scan conducted in a sample of 479 cases and replicated in 6666 cases. Subsequently, evidence by replication was obtained in several samples with European- and Asian ancestral background.
We report ascertainment, clinical characterization, quality control, and determination of ancestral background of a case control sample from Indonesia, comprising 1067 cases and 1111 ancestry matched controls. Genotyping was performed using a fluorescence-based allelic discrimination assay (TaqMan SNP genotyping assay) and a newly designed PCR-RFLP assay for confirmation of rs1344706 genotypes.
We confirmed association of the T-allele of rs1344706 with schizophrenia in a newly ascertained sample from Indonesia with Southeast Asian ancestral background (P=0.019, OR=1.155, 95%, CI 1.025-1.301). In addition, we studied several SNPs in the vicinity of rs1344706, for which nominally significant results had been reported. None of the association P values of the additional SNPs exceeded that of rs1344706.
We provide additional evidence for association of the ZNF804A gene with schizophrenia. We conclude that rs1344706 or a yet unknown polymorphism in linkage disequilibrium is also involved in conferring susceptibility to schizophrenia in samples with different (Asian) ancestral backgrounds.
位于 2q32.1 上的 ZNF804A 基因(rs1344706)与精神分裂症的关联最初是在对 479 例样本进行的全基因组扫描中报道的，并在 6666 例样本中得到了复制。随后，在具有欧洲和亚洲祖先背景的多个样本中获得了复制证据。
我们报告了来自印度尼西亚的病例对照样本的确定、临床特征、质量控制和祖先背景的确定，该样本包括 1067 例病例和 1111 例匹配的对照。使用荧光等位基因区分检测（TaqMan SNP 基因分型检测）和新设计的 PCR-RFLP 检测来确定 rs1344706 基因型。
我们在一个具有东南亚祖先背景的新确定的印度尼西亚样本中证实了 rs1344706 的 T 等位基因与精神分裂症的关联（P=0.019，OR=1.155，95%置信区间 1.025-1.301）。此外，我们研究了 rs1344706 附近的几个 SNP，这些 SNP 的关联结果曾被报道为名义上显著。没有一个附加 SNP 的关联 P 值超过 rs1344706。
我们提供了额外的证据表明 ZNF804A 基因与精神分裂症有关。我们的结论是，rs1344706 或一个未知的连锁不平衡多态性也参与了具有不同（亚洲）祖先背景的样本中精神分裂症的易感性。
