A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan

Lin, Chang‐Yu; Li, Ling-Hui; Ho, Sheng-Feng; Chuang, Tzu-Po; Wu, Jer‐Yuarn; Chen, Yuan-Tsong; Fann, Cathy S.J.

doi:10.1186/1471-2156-9-92

Cited by 24 publications

(21 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The analyzed EA populations were composed of 300 Han Taiwanese [25], 692 Han Chinese [20], 800 Han Taiwanese [23], and 3578 Koreans [22]. With the Human-1 M chip, we found that in Tibetans, the average sizes of CNVs (313 kb) and CNVRs (370.6 kb), as well as the average CNV coverage per genome (6.07 Mb), are larger than those in other EA populations (Table 1).…”

Section: Resultsmentioning

confidence: 90%

A Preliminary Study of Copy Number Variation in Tibetans

Zhang

et al. 2012

PLoS ONE

View full text Add to dashboard Cite

Genetic features of Tibetans have been broadly investigated, but the properties of copy number variation (CNV) have not been well examined. To get a preliminary view of CNV in Tibetans, we scanned 29 Tibetan genomes with the Illumina Human-1 M high-resolution genotyping microarray and identified 139 putative copy number variable regions (CNVRs), consisting of 70 deletions, 61 duplications, and 8 multi-allelic loci. Thirty-four of the 139 CNVRs showed differential allele frequencies versus other East-Asian populations, with P values <0.0001. These results indicated a distinct pattern of CNVR allele frequency distribution in Tibetans. The Tibetan CNVRs are enriched for genes in the disease class of human reproduction (such as genes from the DAZ, BPY2, CDY, and HLA-DQ and -DR gene clusters) and biological process categories of “response to DNA damage stimulus” and “DNA repair” (such as RAD51, RAD52, and MRE11A). These genes are related to the adaptive traits of high infant birth weight and darker skin tone of Tibetans, and may be attributed to recent local adaptation. Our results provide a different view of genetic diversity in Tibetans and new insights into their high-altitude adaptation.

show abstract

Section: Resultsmentioning

confidence: 90%

A Preliminary Study of Copy Number Variation in Tibetans

Zhang

et al. 2012

PLoS ONE

View full text Add to dashboard Cite

show abstract

“…CNVs have been explored in European (Redon et al, 2006; Li et al, 2009; Gayán et al, 2010; Valsesia et al, 2012), African (Matsuzaki et al, 2009; McElroy et al, 2009), and several Asian populations: Chinese (Lin et al, 2008), Japanese (Takahashi et al, 2008), Korean (Kang et al, 2008; Jeon et al, 2009). Comparisons have been performed between human populations (Jakobsson et al, 2008; Conrad et al, 2010; Kato et al, 2010) and across apes (Nistér et al, 1987; Conrad and Hurles, 2007; Kidd et al, 2008, 2010).…”

Section: Background Information On Cnvsmentioning

confidence: 99%

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

Valsesia¹,

Macé²,

Jacquemont³

et al. 2013

Front. Genet.

View full text Add to dashboard Cite

Differences between genomes can be due to single nucleotide variants, translocations, inversions, and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 500 kb are strongly associated with morbid consequences such as developmental disorders and cancer. Detecting CNVs within and between populations is essential to better understand the plasticity of our genome and to elucidate its possible contribution to disease. Hence there is a need for better-tailored and more robust tools for the detection and genome-wide analyses of CNVs. While a link between a given CNV and a disease may have often been established, the relative CNV contribution to disease progression and impact on drug response is not necessarily understood. In this review we discuss the progress, challenges, and limitations that occur at different stages of CNV analysis from the detection (using DNA microarrays and next-generation sequencing) and identification of recurrent CNVs to the association with phenotypes. We emphasize the importance of germline CNVs and propose strategies to aid clinicians to better interpret structural variations and assess their clinical implications.

show abstract

“…So far, very limited number of studies assessed the link between CNVs and miRNAs (42)(43)(44)(45). In principle, copy number variations (CNVs) can lead to amplification, insertion or deletion of miRNA genes.…”

Section: Cnv-based Alteration Of Microrna Genesmentioning

confidence: 99%

microRNAs in diseases: from candidate to modifier genes

et al. 2010

View full text Add to dashboard Cite

Until recently, the search for genetic factors predisposing or causing Mendelian diseases focused almost exclusively on protein coding sequences. As essential components of the regulatory system of gene expression, microRNAs (miRNAs) hold great promises into elucidating a number of inherited diseases. The herein review focuses on the genetic variations, whether copy number variation (CNV) or single nucleotide polymorphism (SNP), alternatively at the levels of the miRNA gene itself and of its target genes. We consider miRNA as the candidate gene, or the regulator of a disease-causing gene, or the modifier gene. The best paradigms of the field are presented in both monogenic diseases and complex traits. The computational tools, which are essential into identifying miRNAs and characterizing miRNA targets, are overviewed.

show abstract

A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan

Cited by 24 publications

References 18 publications

A Preliminary Study of Copy Number Variation in Tibetans

A Preliminary Study of Copy Number Variation in Tibetans

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

microRNAs in diseases: from candidate to modifier genes

Contact Info

Product

Resources

About