作者
Itaru Kushima, Yukako Nakamura, Branko Aleksic, Masashi Ikeda, Yoshihito Ito, Tomoko Shiino, Tomo Okochi, Yasuhisa Fukuo, Hiroshi Ujike, Michio Suzuki, Toshiya Inada, Ryota Hashimoto, Masatoshi Takeda, Kozo Kaibuchi, Nakao Iwata, Norio Ozaki
发表日期
2012/5/1
期刊
Schizophrenia bulletin
卷号
38
期号
3
页码范围
552-560
出版商
Oxford University Press
简介
Background
Our genome-wide association study of schizophrenia found association signals at the Kalirin gene (KALRN) and EPH receptor B1 gene (EPHB1) in a Japanese population. The importance of these synaptogenic pathway genes in schizophrenia is gaining independent supports. Although there has been growing interest in rare (<1%) missense mutations as potential contributors to the unexplained heritability of schizophrenia, there are no population-based studies targeting rare (<1%) coding mutations with a larger effect size (eg, OR >1.5) in KALRN or EPHB1.
Methods and Results
The present study design consisted of 3 phases. At the discovery phase, we conducted resequencing analyses for all exon regions of KALRN and EPHB1 using a DNA microarray–based method. Seventeen rare (<1%) missense mutations were discovered in the first sample set (320 …
学术搜索中的文章
I Kushima, Y Nakamura, B Aleksic, M Ikeda, Y Ito… - Schizophrenia bulletin, 2012