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Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women.

Journal article
Authors Lars Westberg
Fariba Baghaei
Roland Rosmond
Monika Hellstrand
Mikael Landén
Maria Jansson
Göran Holm
Per Björntorp
Elias Eriksson
Published in The Journal of clinical endocrinology and metabolism
Volume 86
Issue 6
Pages 2562-8
ISSN 0021-972X
Publication year 2001
Published at Institute of Physiology and Pharmacology, Dept of Pharmacology
Institute of Clinical Neurosciences, Section of Psychiatry
Institute of Internal Medicine, Dept of Respiratory Medicine/Allergology
Pages 2562-8
Language en
Keywords Adult, Androgens, blood, Base Sequence, genetics, Cohort Studies, Estrogen Receptor beta, Female, Follicle Stimulating Hormone, blood, Gonadal Steroid Hormones, blood, Humans, Luteinizing Hormone, blood, Polymorphism, Genetic, physiology, Receptors, Androgen, genetics, Receptors, Estrogen, genetics, Sex Hormone-Binding Globulin, analysis, Trinucleotide Repeats
Subject categories Pharmacology and Toxicology


To elucidate the possible role of genetic variation in androgen receptor (AR), estrogen receptor alpha (ER alpha), and ER beta on serum androgen levels in premenopausal women, the CAG repeat polymorphism of the AR gene, the TA repeat polymorphism of the ER alpha gene, and the CA repeat polymorphism of the ER beta gene were studied in a population-based cohort of 270 women. Total testosterone, free testosterone, dehydroepiandrosterone sulfate, androstenedione, 17-hydroxyprogesterone, 3 alpha-androstanediol glucuronide, 17 beta-estradiol, LH, FSH, and sex steroid hormone-binding globulin (SHBG) were measured in serum samples obtained in the follicular phase of the menstrual cycle. Women with relatively few CAG repeats in the AR gene, resulting in higher transcriptional activity of the receptor, displayed higher levels of serum androgens, but lower levels of LH, than women with longer CAG repeat sequences. The CA repeat of the ER beta gene also was associated with androgen and SHBG levels; women with relatively short repeat regions hence displayed higher hormone levels and lower SHBG levels than those with many CA repeats. In contrast, the TA repeat of the ER alpha gene was not associated with the levels of any of the hormones measured. Our results suggest that the serum levels of androgens in premenopausal women may be influenced by variants of the AR gene and the ER beta gene, respectively.

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