Copy-Number Variations Observed in a Japanese Population by BAC Array CGH: Summary of Relatively Rare CNVs

Abstract

Copy-number variations (CNVs) may contribute to genetic variation in humans. Reports regarding existence and characteristics of CNVs in a large apparently healthy Japanese cohort are quite limited. We report the data from a screening of 213 unrelated Japanese individuals using comparative genomic hybridization based on a bacterial artificial chromosome microarray (BAC aCGH). In a previous paper, we summarized the data by focusing on highly polymorphic CNVs (in ≥5.0 % of the individuals). However, rare variations have recently received attention from scientists who espouse a hypothesis called “common disease and rare variants.” Here, we report CNVs identified in fewer than 10 individuals in our study population. We found a total of 126 CNVs at 52 different BAC regions in the genome. The CNVs observed at 27 of the 52 BAC-regions were found in only one unrelated individual. The majority of CNVs found in this study were not identified in the Japanese who were examined in the other studies. Family studies were conducted, and the results demonstrated that the CNVs were inherited from one parent in the families.

A Prospective Screening of Gene Copy Number Variation in Brazilian Admixed Population Sample

“…CNVs play some role in instances of phenotypic evolution, and complex diseases [7,[11][12][13][14][15][16][17][18]. Changes in the coding sequence of a gene, alterations in expression level and creations of paralogs with new features, represent some mechanisms by which the CNV can produce phenotypic alterations, triggering potential changes of adaptation and function in the affected gene [19,32].…”

“…CNVs play an important role over several genetic diseases susceptibility, such as obesity, diabetes, cancer and neuropsychiatric diseases [7,[11][12][13][14]. In addition, the genetic heritability of nonpathological human traits can also be explained by CNVs [15][16][17][18]. For instance, adaptive evolution on chemosensation and immune response [19].…”