Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample

Zhao, Zhen Zhen, Nyholt, Dale R., Le, Lien, Thomas, Shane, Engwerda, Christian, Randall, Louise, Treloar, Susan A. and Montgomery, Grant W. (2007) Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample. Human Reproduction, 22 9: 2389-2397. doi:10.1093/humrep/dem182


Author Zhao, Zhen Zhen
Nyholt, Dale R.
Le, Lien
Thomas, Shane
Engwerda, Christian
Randall, Louise
Treloar, Susan A.
Montgomery, Grant W.
Title Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample
Journal name Human Reproduction   Check publisher's open access policy
ISSN 0268-1161
Publication date 2007-09-01
Sub-type Article (original research)
DOI 10.1093/humrep/dem182
Volume 22
Issue 9
Start page 2389
End page 2397
Total pages 9
Editor A. Van Steirteghem
Place of publication Oxford, United Kingdom
Publisher Oxford University Press
Collection year 2008
Language eng
Subject 321011 Medical Genetics
C1
730107 Inherited diseases (incl. gene therapy)
Formatted abstract
BACKGROUND:
Tumour necrosis factor (TNF) is a pleiotropic cytokine with a wide range of immunoregulatory effects. Variation in the promoter region of TNF and the neighbouring lymphotoxin alpha (LTA) gene might be associated with endometriosis.

METHODS:
We examined the association between endometriosis and common single-nucleotide polymorphisms (SNPs) or haplotypes in the TNF/LTA region in an Australian sample by analysing 26 SNPs in 958 endometriosis cases and 959 unrelated controls. We selected functional SNPs in the coding and the promoter region of the TNF gene and HapMap tagging SNPs and typed them on a Sequenom MassARRAY platform. A key SNP (rs1800630) in the promoter region typed in previous studies did not give reliable results. Therefore, we also examined a statistically identical (r2 = 1) SNP (siSNP) (rs2844482), identified using the web based program ssSNPer.

RESULTS:
Genotype completion rate was 99.5% for SNPs spanning a region of 15.5 kb across the TNF/LTA locus. There was no evidence for association between endometriosis and TNF/LTA SNPs or SNP haplotypes in our case–control study.

CONCLUSIONS:
Our data suggest both TNF and LTA genes are not major susceptibility genes for endometriosis. 
Keyword endometriosis
tumour necrosis factor
single-nucleotide polymorphism
haplotype
lymphotoxin alpha
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
2008 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Wed, 02 Apr 2008, 01:39:16 EST by Brenda Mason on behalf of Medicine - Royal Brisbane and Women's Hospital