Results
| PMID | 15120698 |
| Gene Name | AR |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | AR-CAG repeat length |
| Population size | 302 |
| Population details | 302 (197 white Italian women of reproductive age who underwent laparoscopy for benign gynecologic pathologies, 105 women (stage I-II in 33 women and stage III-IV in 72 women)) |
| Sex | Female |
| Associated genes | AR |
| Other associated phenotypes |
Endometriosis |
|
J Soc Gynecol Investig. 2004 May;11(4):237-40. Lattuada, Debora| Vigano, Paola| Somigliana, Edgardo| Odorizzi, Maria Paola| Vignali, Mario| Di Blasio, Anna Maria Molecular Biology Laboratory Istituto Auxologico Italiano, Milan, Italy. OBJECTIVE: A genetic variation in the androgen receptor (AR) has been associated with the risk of developing endometriosis. The AR gene is located on the X chromosome and contains a highly polymorphic trinucleotide repeat (cytosine, adenine, and guanine: CAG) in its first exon, whose length and methylation pattern affect both AR expression and function. Thus, we sought to further investigate the potential association between endometriosis and the AR-CAG polymorphism. METHODS: Genomic DNA was obtained from a consecutive series of 197 white Italian women of reproductive age who underwent laparoscopy for benign gynecologic pathologies. Molecular analysis of AR-CAG repeats was performed by polymerase chain reaction amplification and Genescan evaluation. The pattern of CAG repeat distribution was compared between subjects with and without endometriosis. RESULTS: Endometriosis was documented in 105 women (stage I-II in 33 women and stage III-IV in 72 women). We found no difference in the number of AR-CAG repeats between women with endometriosis and controls. The CAG repeat length ranged from eight to 27 (mean +/- standard deviation, 17.4 +/- 1.9) for endometriosis patients and from 11 to 27 (mean +/- standard deviation, 17.4 +/- 2) for controls. Moreover, no association was found between AR gene polymorphisms and the various clinical manifestations of the disease. CONCLUSION: We conclude that AR-CAG repeat length does not constitute an important factor for the genetic predisposition to endometriosis. Mesh Terms: *Adenine| Adult| Alleles| *Cytosine| Endometriosis/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Genotype| *Guanine| Humans| Polymerase Chain Reaction| Receptors, Androgen/*genetics| Repetitive Sequences, Nucleic Acid/ |
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