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J Hum Genet. 2014 Jun;59(6):326-31. doi: 10.1038/jhg.2014.27. Epub 2014 May 1.

Compilation of copy number variants identified in phenotypically normal and parous Japanese women.

Author information

1
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
2
Department of Obstetrics and Gynecology, School of Medicine, Keio University, Tokyo, Japan.
3
Department of Obstetrics and Gynecology, St Marianna University School of Medicine, Kanagawa, Japan.
4
Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
5
Department of Obstetrics and Gynecology, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan.
6
Department of Obstetrics and Gynecology, University of Toyama, Toyama, Japan.
7
Department of Maternal-Fetal and Neonatal Medicine, National Center for Child Health and Development, Tokyo, Japan.
8
Illumina KK, Tokyo, Japan.
9
Department of Reproductive Biology and Pathology, National Research Institute for Child Health and Development, Tokyo, Japan.
10
Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.

Abstract

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.

PMID:
24785687
DOI:
10.1038/jhg.2014.27
[Indexed for MEDLINE]
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