A genome-wide CNV association study on panic disorder in a Japanese population
A genome-wide CNV association study on panic disorder in a Japanese population
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DOI：
10.1038/jhg.2011.117
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发表时间：
2011-12-01
影响因子：
3.5
通讯作者：
Sasaki, Tsukasa
中科院分区：
文献类型：
--
作者：
Kawamura, Yoshiya;Otowa, Takeshi;Sasaki, Tsukasa
家庭和双胞胎研究表明，遗传因素在惊恐障碍（PD）中起重要作用，但其发病机制尚不明确。我们进行了一项全基因组拷贝数变异（CNV）关联研究，以阐明结构变异在PD病因学中的作用。参与者是2055名基因无关的日本人（535名PD患者和1520名对照组）。cnv检测采用Genome-Wide Human SNP array 6.0，由Birdsuite检测，PennCNV确认。他们被归类为罕见的CNVs（发现率= 5%）。使用PLINK对罕见CNVs进行全局负担分析，对常见CNVs进行关联分析。样本产生2039个罕见的CNVs和79个常见的CNVs。未发现PD病例中罕见的CNV负担显著增加。16p11.2中常见的重复显示bonferroni校正的p值
Family and twin studies have indicated that genetic factors have an important role in panic disorder (PD), whereas its pathogenesis has remained elusive. We conducted a genome-wide copy number variation (CNV) association study to elucidate the involvement of structural variants in the etiology of PD. The participants were 2055 genetically unrelated Japanese people (535 PD cases and 1520 controls). CNVs were detected using Genome-Wide Human SNP array 6.0, determined by Birdsuite and confirmed by PennCNV. They were classified as rare CNVs (found in = 5%). PLINK was used to perform global burden analysis for rare CNVs and association analysis for common CNVs. The sample yielded 2039 rare CNVs and 79 common CNVs. Significant increases in the rare CNV burden in PD cases were not found. Common duplications in 16p11.2 showed Bonferroni-corrected P-values