Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Results


PMID 20190557
Gene Name AR
Condition Endometriosis
Association Associated
Mutation CAG repeat length polymorphism
Population size 215
Population details 215 (74 women with PCOS and with endometriosis, 141 controls)
Sex Female
Infertility type Female infertility
Other associated phenotypes Polycystic ovary syndrome (PCOS), Endometriosis, Infertility
The relationship between CAG repeat length polymorphism and infertility in Southern Chinese Han women.

J Endocrinol Invest. 2010 Sep;33(8):559-63. doi: 10.3275/6871. Epub 2010 Feb 24.

Tong, D| Deng, J| Sun, H| Chen, L| Wu, X

Department of Forensic Medicine, Zhongshan Medical College, Sun Yat-sen University, 510080, Guangzhou, China.

OBJECTIVE: To research the relationship between polymorphism of trinucleotide (CAG)n repeat alleles of the Exon 1 of androgen receptor gene and women with polycystic ovary syndrome (PCOS), or with endometriosis. MATERIALS AND METHODS: One hundred and forty-one control women and 74 women with PCOS and with endometriosis were recruited. The (CAG)n repeat alleles were genotyped with 3100 genetic analyser. The repeat number and frequency distributions of (CAG)n alleles were compared and analyzed statistically. RESULTS: The results showed that mean repeat number of the (CAG)n was significantly lower in women with PCOS than in controls (p<0.001). The mean repeat number of the (CAG)n was significantly different between infertile women with endometriosis (p<0.05). However, the differences between infertile women with PCOS and fertile women with PCOS was not significant (p>0.05). CONCLUSIONS: These data indicated that (CAG)n repeat polymorphism have some influence, but have not a straight relationship in infertile women with PCOS and with endometriosis in this research population.

Mesh Terms: Adult| Asian Continental Ancestry Group/genetics| Endometriosis/genetics| Female| Gene Frequency| Humans| Infertility, Female/etiology/*genetics| Polycystic Ovary Syndrome/genetics| Polymorphism, Genetic| Receptors, Androgen/*genetics| Trinucleo