Compilation of copy number variants identified in phenotypically normal and parous Japanese women
Compilation of copy number variants identified in phenotypically normal and parous Japanese women
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DOI：
10.1038/jhg.2014.27
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发表时间：
2014-05
影响因子：
3.5
通讯作者：
O. Migita;K. Maehara;H. Kamura;K. Miyakoshi;Mamoru Tanaka;S. Morokuma;K. Fukushima;T. Shimamoto;S. Saito;H. Sago;Keiichiro Nishihama;Kosei Abe;K. Nakabayashi;A. Umezawa;K. Okamura;K. Hata
中科院分区：
文献类型：
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作者：
O. Migita;K. Maehara;H. Kamura;K. Miyakoshi;Mamoru Tanaka;S. Morokuma;K. Fukushima;T. Shimamoto;S. Saito;H. Sago;Keiichiro Nishihama;Kosei Abe;K. Nakabayashi;A. Umezawa;K. Okamura;K. Hata
随着公众对不孕不育和流产中染色体异常的频繁关注，拷贝数变异（CNV）分析已被用来识别负责每个生育过程的基因组区域。尽管 CNV 与疾病之间的关联已有报道，但在健康个体中也发现了许多 CNV。与其他类型的突变一样，表型不确定的 CNV 可能在人类发生过程中被保留和积累。因此，将致病变异与其他变异区分开来是一项艰巨的任务。此外，由于之前的研究主要集中在欧洲和非洲人群，因此迫切需要对亚洲常见的 CNV 进行全面检测。在这里，我们使用高分辨率基因分型阵列和来自 411 名产次正常且无明显并发症的日本女性的样本，编译了 1043 个拷贝数可变区。收集的区域总共覆盖 164 Mb，即基因组的 0.5%。这些区域的拷贝数差异可能不仅与不孕不育无关，而且与多种疾病无关。还证明了该资源在减少候选致病变异方面的效用，特别是在日本受试者中。
With increasing public concern about infertility and the frequent involvement of chromosomal anomalies in miscarriage, analyses of copy number variations (CNVs) have been used to identify the genomic regions responsible for each process of childbearing. Although associations between CNVs and diseases have been reported, many CNVs have also been identified in healthy individuals. Like other types of mutations, phenotypically indefinite CNVs may have been retained and accumulated during anthropogenesis. Therefore to distinguish causative variants from other variants is a formidable task. Furthermore, because previous studies have predominantly focused on European and African populations, comprehensive detection of common Asian CNVs is eagerly awaited. Here, using a high-resolution genotyping array and samples from 411 Japanese women with normal parity without significant complications, we have compiled 1043 copy number variable regions. In total, the collected regions cover 164 Mb, or up to 0.5% of the genome. The copy number differences in these regions may be irrelevant not only to infertility but also to a wide range of diseases. The utility of this resource in reducing the candidate pathogenetic variants, especially in Japanese subjects, is also demonstrated.