当前位置： SCI文献检索 > PSYCHIATRY AND CLINICAL NEUROSCIENCES期刊下所有文献 > Rare FBXO18 variations and risk of schizophrenia: Whole-exome sequencing in two parent-affected offspring trios followed by resequencing and case-control studies.

Rare FBXO18 variations and risk of schizophrenia: Whole-exome sequencing in two parent-affected offspring trios followed by resequencing and case-control studies.

Abstract：

AIM:Rare variations are suggested to play a role in the genetic etiology of schizophrenia; to further investigate their role, we performed a three-stage study in a Japanese population. METHODS:In the first stage, we performed whole-exome sequencing (WES) of two parent-affected offspring trios. In the second stage, we resequenced the FBXO18 coding region in 96 patients. In the third stage, we tested rare non-synonymous FBXO18 variations for association with schizophrenia in two independent populations comprising a total of 1376 patients and 1496 controls. RESULTS:A rare frameshift variation (L116fsX) in the FBXO18 gene was recurrently identified by WES in both trios. Resequencing FBXO18 coding regions, we detected three rare non-synonymous variations (V15L, L116fsX, and V1006I). However, there were no significant associations between these rare FBXO18 variations and schizophrenia in the case-control study. CONCLUSION:Our present study does not provide evidence for the contribution of rare non-synonymous FBXO18 variations to the genetic etiology of schizophrenia in the Japanese population. However, to draw a definitive conclusion, further studies should be performed using sufficiently large sample sizes.

journal_name

Psychiatry Clin Neurosci

journal_title

Psychiatry and clinical neurosciences

authors

Hoya S,Watanabe Y,Hishimoto A,Nunokawa A,Inoue E,Igeta H,Otsuka I,Shibuya M,Egawa J,Sora I,Someya T

doi

10.1111/pcn.12526

subject

Has Abstract

pub_date

2017-08-01 00:00:00

pages

562-568

issue

8

eissn

1323-1316

issn

1440-1819

journal_volume

71

pub_type

杂志文章

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