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精神分裂症 1 号缺失的单核苷酸多态性与精神分裂症易感性:来自马来西亚的证据。

Disrupted-in-Schizophrenia-1 SNPs and Susceptibility to Schizophrenia: Evidence from Malaysia.

机构信息

Department of Basic Medical Sciences, Kulliyyah of Medicine, International Islamic University, Pahang, Malaysia.

Department of Psychiatry, Kulliyyah of Medicine, International Islamic University Malaysia, Pahang, Malaysia.

出版信息

Psychiatry Investig. 2015 Jan;12(1):103-11. doi: 10.4306/pi.2015.12.1.103. Epub 2015 Jan 12.

Abstract

OBJECTIVE

Even though the role of the DICS1 gene as a risk factor for schizophrenia is still unclear, there is substantial evidence from functional and cell biology studies that supports the connection of the gene with schizophrenia. The studies associating the DISC1 gene with schizophrenia in Asian populations are limited to East-Asian populations. Our study examined several DISC1 markers of schizophrenia that were identified in the Caucasian and East-Asian populations in Malaysia and assessed the role of rs2509382, which is located at 11q14.3, the mutual translocation region of the famous DISC1 translocation [t (1; 11) (p42.1; q14.3)].

METHODS

We genotyped eleven single-neucleotide polymorphism (SNPs) within or related to DISC1 (rs821597, rs821616, rs4658971, rs1538979, rs843979, rs2812385, rs1407599, rs4658890, and rs2509382) using the PCR-RFLP methods.

RESULTS

In all, there were 575 participants (225 schizophrenic patients and 350 healthy controls) of either Malay or Chinese ethnicity. The case-control analyses found two SNPs that were associated with schizophrenia [rs4658971 (p=0.030; OR=1.43 (1.35-1.99) and rs1538979-(p=0.036; OR=1.35 (1.02-1.80)] and rs2509382-susceptibility among the males schizophrenics [p=0.0082; OR=2.16 (1.22-3.81)]. This is similar to the meta-analysis findings for the Caucasian populations.

CONCLUSION

The study supports the notion that the DISC1 gene is a marker of schizophrenia susceptibility and that rs2509382 in the mutual DISC1 translocation region is a susceptibility marker for schizophrenia among males in Malaysia. However, the finding of the study is limited due to possible genetic stratification and the small sample size.

摘要

目的

尽管 DICS1 基因作为精神分裂症的风险因素的作用仍不清楚,但来自功能和细胞生物学研究的大量证据支持该基因与精神分裂症之间的联系。将 DISC1 基因与亚洲人群中的精神分裂症相关联的研究仅限于东亚人群。我们的研究检查了在马来西亚的高加索人和东亚人群中鉴定出的几个与精神分裂症相关的 DISC1 标记物,并评估了位于 11q14.3 处的著名 DISC1 易位 [t (1; 11) (p42.1; q14.3)] 的互易位区域中的 rs2509382 的作用。

方法

我们使用 PCR-RFLP 方法对 DISC1 内或与之相关的 11 个单核苷酸多态性(SNP)(rs821597、rs821616、rs4658971、rs1538979、rs843979、rs2812385、rs1407599、rs4658890 和 rs2509382)进行基因分型。

结果

共有 575 名马来族或华裔参与者(225 名精神分裂症患者和 350 名健康对照者)。病例对照分析发现两个与精神分裂症相关的 SNP [rs4658971(p=0.030;OR=1.43(1.35-1.99)和 rs1538979-(p=0.036;OR=1.35(1.02-1.80)]和 rs2509382-易感性在男性精神分裂症患者中 [p=0.0082;OR=2.16(1.22-3.81)]。这与高加索人群的荟萃分析结果相似。

结论

该研究支持 DISC1 基因是精神分裂症易感性的标记物的观点,并且位于相互 DISC1 易位区域的 rs2509382 是马来西亚男性精神分裂症的易感性标记物。然而,由于可能存在遗传分层和样本量小,该研究的发现受到限制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e1a/4310907/442c960a6374/pi-12-103-g001.jpg

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