Results
| PMID | 12837926 |
| Gene Name | CCL5 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | RANTES (-403G-->A, -28C-->G) |
| Sex | Female |
| Associated genes | RANTES |
| Other associated phenotypes |
Endometriosis |
|
Mol Hum Reprod. 2003 Aug;9(8):491-5. Antinolo, G| Fernandez, R M| Noval, J A| Garcia-Lozano, J C| Borrego, S| Marcos, I| Molini, J L Unidad de Genetica Medica y Diagnostico Prenatal, Hospitales Universitarios Virgen del Rocio, Avda. Manuel Siurot s/n. 41013, Seville, Spain. guillermo.antinolo.sspa@juntadeandalucia.es The RANTES (regulated upon activation normal T cells expressed and secreted) chemokine, is known to be expressed in endometriotic lesions in a concentration correlating with the severity of endometriosis. Since it has been widely demonstrated that endometriosis has a genetic basis, we postulated that the gene encoding RANTES could be a good candidate gene for the disease. We have used fluorescence resonance energy transfer (FRET) technology to genotype and evaluate the role of the variants -403G-->A and -28C-->G, located within the promoter region of the gene, as susceptibility factors in a cohort of Spanish women with endometriosis. No differences have been found in the allelic frequencies of both variants nor in the haplotype/ genotype distribution between patients and controls. These data are consistent with the lack of association between these polymorphisms and endometriosis in our population. They do not exclude completely a possible role of other variants within RANTES gene in this pathology. Mesh Terms: Adult| Base Sequence| Chemokine CCL5/*genetics| Cohort Studies| Endometriosis/*genetics/immunology| Female| Fluorescence Resonance Energy Transfer| Genotype| Humans| Middle Aged| Molecular Sequence Data| Point Mutation| *Polymorphism, Genetic| |
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