Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
QIMR Home Page
GenEpi Home Page
About GenEpi
Publications
Contacts
Research
Staff Index
Collaborators
Software Tools
Computing Resources
Studies
Search
GenEpi Intranet
PMID
17164263
TITLE
Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines.
ABSTRACT
The expression level for 15,887 transcripts in lymphoblastoid cell lines from 19 monozygotic twin pairs (10 male, 9 female) were analysed for the effects of genotype and sex. On an average, the effect of twin pairs explained 31% of the variance in normalized gene expression levels, consistent with previous broad sense heritability estimates. The effect of sex on gene expression levels was most noticeable on the X chromosome, which contained 15 of the 20 significantly differentially expressed genes. A high concordance was observed between the sex difference test statistics and surveys of genes escaping X chromosome inactivation. Notably, several autosomal genes showed significant differences in gene expression between the sexes despite much of the cellular environment differences being effectively removed in the cell lines. A publicly available gene expression data set from the CEPH families was used to validate the results. The heritability of gene expression levels as estimated from the two data sets showed a highly significant positive correlation, particularly when both estimates were close to one and thus had the smallest standard error. There was a large concordance between the genes significantly differentially expressed between the sexes in the two data sets. Analysis of the variability of probe binding intensities within a probe set indicated that results are robust to the possible presence of polymorphisms in the target sequences.
DATE PUBLISHED
2007 Feb 15
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2006/12/12
pubmed 2006/12/14 09:00
medline 2007/04/27 09:00
entrez 2006/12/14 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
McRae AF McRae Allan F AF Genetic Epidemiology Group, Queensland Institute of Medical Research, Herston, QLD 4029, Australia. allan.mcrae@qimr.edu.au
Matigian NA Matigian Nicholas A NA
Vadlamudi L Vadlamudi Lata L
Mulley JC Mulley John C JC
Mowry B Mowry Bryan B
Martin NG Martin Nicholas G NG
Berkovic SF Berkovic Sam F SF
Hayward NK Hayward Nicholas K NK
Visscher PM Visscher Peter M PM
INVESTIGATORS
JOURNAL
VOLUME: 16
ISSUE: 4
TITLE: Human molecular genetics
ISOABBREVIATION: Hum. Mol. Genet.
YEAR: 2007
MONTH: Feb
DAY: 15
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0964-6906
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Hum Mol Genet
COUNTRY: England
ISSNLINKING: 0964-6906
NLMUNIQUEID: 9208958
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Cell Line, Transformed
Cell Transformation, Viral
Databases, Factual
Family
Female
Gene Expression Regulation
Genotype
Humans
Lymphocytes metabolism
Male metabolism
Middle Aged metabolism
Oligonucleotide Array Sequence Analysis metabolism
Sex Characteristics metabolism
Twins, Monozygotic metabolism
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's