Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome

Kim, Jin Ju; Choung, Seon Ha; Choi, Young Min; Yoon, Sang Ho; Kim, Seok Hyun; Moon, Shin Yong

doi:10.1016/j.fertnstert.2007.10.030

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Volume 90, Issue 6 , Pages 2318-2323, December 2008

Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome

Jin Ju Kim, M.D.
- Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea
Seon Ha Choung, B.S.
- Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea
Young Min Choi, M.D.
- Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea
- Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea
- Reprint requests: Young Min Choi, M.D., Department of Obstetrics & Gynecology, The Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, 28 Yungun-dong, Chongno-ku, Seoul 110-744, South Korea (FAX: 82-2-762-3599).
Sang Ho Yoon, M.D.
- Department of Obstetrics and Gynecology, Dongguk University International Hospital, Goyang, South Korea
Seok Hyun Kim, M.D.
- Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea
- Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea
Shin Yong Moon, M.D.
- Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea
- Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea

Received 9 May 2007; received in revised form 25 October 2007; accepted 25 October 2007. published online 14 January 2008.

Objective

To evaluate the role of the androgen receptor (AR) gene CAG repeat in women with polycystic ovary syndrome (PCOS).

Design

Case control study.

Setting

University department of obstetrics and gynecology.

Patient(s)

Women with (n = 114) or without (n = 205) PCOS.

Intervention(s)

Peripheral blood sampling was done for DNA analysis and serum hormone measurements.

Main Outcome Measure(s)

CAG repeat length and serum androgen levels.

Result(s)

No statistically significant CAG repeat length differences were found between patients and controls. We conducted a detailed analysis after dividing PCOS patients according to their free testosterone levels. The high free testosterone group had a statistically significantly longer mean biallelic average (24.0 ± 2.0 vs. 23.0 ± 1.5), short (22.5 ± 1.8 vs. 21.7 ± 1.9), and long (25.5 ± 2.9 vs. 24.4 ± 1.9) allelic lengths than the normal free testosterone group. In PCOS patients, a statistically significant correlation was found between biallelic average length and free testosterone concentration, either unadjusted or after adjustment.

Conclusion(s)

The AR gene CAG repeat polymorphism may contribute to the serum concentration of free testosterone in PCOS patients. A subset of PCOS patients with relatively longer CAG repeats (less AR activity) tended to show a higher serum androgen concentration.

Key Words: Androgen receptor, CAG repeat, polycystic ovary syndrome