Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
Title: Genome Variations Among the Aboriginals in Malaysia      
Identifier:
phs000664.v1.p1
description:
Copy number variation (CNV) has been recognized as a major contributor to human genome diversity. It plays an important role in determining phenotypes and has been associated with a number of common and complex diseases. However the CNV data from diverse populations is rather limited. Here we report the first investigation of copy number variation (CNV) in the indigenous populations from Peninsular Malaysia. We genotyped 34 Negrito genomes from Peninsular Malaysia using the Affymetrix SNP 6.0 microarray and identified 62 putative novel CNVs, consisting of 25 gains and 37 losses. These CNVs appear unique to the Negrito population and were absent in the DGV, HapMap3 and Singapore Genome Variation Project (SGVP) datasets. Analysis of gene ontology revealed that genes within these CNVs were enriched in the immune system (GO:0002376), response to stimulus mechanisms (GO:0050896), as well as the metabolic pathways (GO:0001852). Copy number gains in CNVRs enriched with genes were significantly higher than the losses (P value <0.001). Therefore, in view of the small population size, relative isolation and semi-normadic lifestyles of this community, we speculate that these CNVs may be attributed to recent local adaptation of Negritos from Peninsular Malaysia.
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000664.v1.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
affiliations:
Institute of Medical Molecular Biology, (IMMB), Faculty of Medicine, Universiti Teknologi MARA, Sg Buloh Campus, Malaysia
name:
Boon Peng Hoh
roles:
Principal Investigator
performedBy:
TitleNameInstitute Principal InvestigatorBoon Peng HohInstitute of Medical Molecular Biology, (IMMB), Faculty of Medicine, Universiti Teknologi MARA, Sg Buloh Campus, Malaysia
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs000664.v1.p1
Identifier:
phs000664.v1.p1_policy
name:
Data Use Certificate
Identifier:
1
name:
General Research Use
alternateIdentifiers:
yes
selectionCriteria:

Inclusion criteria are:

  1. Age between 18-65
  2. Competent to provide informed consent
  3. Three generations descended from the same tribe
  4. Cleared from any known systemic disorders

Exclusion criteria:

  1. Not eligible to give informed consent
  2. Known systemic diseases

types:
Population
dateReleased:
09-20-2013
version:
phs000664.v1.p1
dateModified:
09-23-2013
abbreviation:
NHGRI
name:
National Human Genome Research Institute
ID:
0
name:
dbGaP

Feedback?

If you are having problems using our tools, or if you would just like to send us some feedback, please post your questions on GitHub.