Androgen receptor trinucleotide polymorphism in leiomyoma

Area of Science:

• Genetics
• Gynecology
• Molecular Biology

Background:

• Androgen receptor (AR) is present in leiomyoma tissue.
• The AR gene contains a polymorphic microsatellite with cytosine, adenine, and guanine (CAG) repeats, influencing receptor function.
• Variations in AR gene CAG repeat length are implicated in various hormone-related conditions.

Purpose of the Study:

• To investigate the association between the number of CAG repeats in the AR gene and the development of leiomyoma.
• To determine if specific AR gene CAG repeat polymorphisms correlate with leiomyoma susceptibility.

Main Methods:

• A case-control study was conducted with 159 women diagnosed with leiomyoma and 129 women without leiomyoma.
• Polymerase chain reaction (PCR) was used to detect and quantify the CAG repeat lengths in the AR gene for all participants.
• The distribution and frequency of different CAG repeat genotypes were compared between the leiomyoma and non-leiomyoma groups.

Main Results:

• Significant differences in the genotype proportions of AR gene CAG repeats were observed between the two groups.
• A specific genotype, designated S (27 CAG repeats), was found to be significantly associated with increased susceptibility to leiomyoma.
• The distribution of CAG repeat lengths in both groups exhibited a mono-peak pattern, with specific percentages provided for genotypes K-S (19-27 repeats).

Conclusions:

• The polymorphism in the AR gene's trinucleotide (CAG) repeats is linked to leiomyoma susceptibility.
• Specifically, having 27 CAG repeats in the AR gene is associated with a higher risk of developing leiomyoma.