Linked Life Data

18339267

Source:http://linkedlifedata.com/resource/pubmed/id/18339267

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2008-3-14
pubmed:abstractText
Endometriosis is one of the most common gynaecological diseases and evidence has suggested that it may be inherited as a complex genetic trait. HOXA10, a homeobox gene, is expressed in the developing uterus and participates in endometrium development and may contribute to endometriosis. In this study, the HOXA10 gene was analysed in 112 patients with endometriosis and in 54 women without endometriosis, as diagnosed laparoscopically. The entire HOXA10 gene was amplified using polymerase chain reaction followed by single-strand conformation polymorphism analysis and sequencing. Association between the polymorphism and the clinical parameters of endometriosis were examined. There were 7.23% patients with HOXA10 genetic alterations; however, there was no significant increase in the endometriosis patients compared with the controls. Most of these DNA variants were found to be novel mutations that reside within the HOXA10 homeobox domain. Six variants generate amino acid changes in the protein and one harbours a premature stop codon. It was found that patients with HOXA10 polymorphism were associated with a lower serum cancer antigen-125, a lower American Fertility Society score and less severe obliterated cul-de-sac. It is postulated that genetic alterations in the homeobox domain might lead to less specificity for HOXA10 protein binding to a DNA molecule.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1472-6483
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
416-24
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Genetic alterations of HOXA10 and their effect on the severity of endometriosis in a Taiwanese population.
pubmed:affiliation
Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't