Compilation of copy number variants identified in phenotypically normal and parous Japanese women.
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.
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Ohsuke
O
Migita
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kayoko
K
Maehara
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Hiromi
H
Kamura
Department of Obstetrics and Gynecology, School of Medicine, Keio University, Tokyo, Japan.
Kei
K
Miyakoshi
Department of Obstetrics and Gynecology, St Marianna University School of Medicine, Kanagawa, Japan.
Mamoru
M
Tanaka
Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Seiichi
S
Morokuma
Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Kotaro
K
Fukushima
Department of Obstetrics and Gynecology, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan.
Tomihiro
T
Shimamoto
Department of Obstetrics and Gynecology, University of Toyama, Toyama, Japan.
Shigeru
S
Saito
Department of Maternal-Fetal and Neonatal Medicine, National Center for Child Health and Development, Tokyo, Japan.
Haruhiko
H
Sago
Illumina KK, Tokyo, Japan.
Keiichiro
K
Nishihama
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kosei
K
Abe
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kazuhiko
K
Nakabayashi
Department of Reproductive Biology and Pathology, National Research Institute for Child Health and Development, Tokyo, Japan.
Akihiro
A
Umezawa
Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
Kohji
K
Okamura
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Kenichiro
K
Hata
D056915:DNA Copy Number Variations; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D006720:Homozygote; D006801:Humans; D007564:Japan; D010298:Parity; D010641:Phenotype; D011247:Pregnancy; D017384:Sequence Deletion