Results
| PMID | 18339267 |
| Gene Name | HOXA10 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 166 |
| Population details | 166 (112 patients with endometriosis, in 54 women without endometriosis) |
| Sex | Female |
| Associated genes | HOXA10 |
| Other associated phenotypes |
Endometriosis |
|
Reprod Biomed Online. 2008 Mar;16(3):416-24. Wu, Hsin-Hung| Wang, Nancy M| Lin, Ching-Yuan| Tsai, Horng-Der Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan. 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. Mesh Terms: Adult| Asian Continental Ancestry Group/genetics| CA-125 Antigen/blood| Case-Control Studies| DNA Mutational Analysis| Endometriosis/*genetics/metabolism/pathology| Female| Gene Expression| Homeodomain Proteins/*genetics/metabolism| Humans| Pelv |
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