Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.
Although copy number variation (CNV) has recently received much attention as a form of structure variation within the human genome, knowledge is still inadequate on fundamental CNV characteristics such as occurrence rate, genomic distribution and ethnic differentiation. In the present study, we used the Affymetrix GeneChip(R) Mapping 500K Array to discover and characterize CNVs in the human genome and to study ethnic differences of CNVs between Caucasians and Asians. Three thousand and nineteen CNVs, including 2381 CNVs in autosomes and 638 CNVs in X chromosome, from 985 Caucasian and 692 Asian individuals were identified, with a mean length of 296 kb. Among these CNVs, 190 had frequencies greater than 1% in at least one ethnic group, and 109 showed significant ethnic differences in frequencies (p<0.01). After merging overlapping CNVs, 1135 copy number variation regions (CNVRs), covering approximately 439 Mb (14.3%) of the human genome, were obtained. Our findings of ethnic differentiation of CNVs, along with the newly constructed CNV genomic map, extend our knowledge on the structural variation in the human genome and may furnish a basis for understanding the genomic differentiation of complex traits across ethnic groups.
Li
Jian
J
School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, United States of America.
Yang
Tielin
T
Wang
Liang
L
Yan
Han
H
Zhang
Yinping
Y
Guo
Yan
Y
Pan
Feng
F
Zhang
Zhixin
Z
Peng
Yumei
Y
Zhou
Qi
Q
He
Lina
L
Zhu
Xuezhen
X
Deng
Hongyi
H
Levy
Shawn
S
Papasian
Christopher J
CJ
Drees
Betty M
BM
Hamilton
James J
JJ
Recker
Robert R
RR
Cheng
Jing
J
Deng
Hong-Wen
HW
D000328:Adult; D000368:Aged; D044466:Asian People; D002874:Chromosome Mapping; D005006:Ethnicity; D005260:Female; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D044465:White People