RT Journal Article T1 A large study of androgen receptor germline variants and their relation to sex hormone levels and prostate cancer risk. Results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium A1 Lindström, Sara A1 Ma, Jing A1 Altshuler, David A1 Giovannucci, Edward A1 Riboli, Elio A1 Albanes, Demetrius A1 Allen, Naomi E A1 Berndt, Sonja I A1 Boeing, Heiner A1 Bueno de Mesquita, H Bas A1 Chanock, Stephen J A1 Dunning, Alison M A1 Spencer Feigelson, Heather A1 Gaziano, J Michael A1 Haiman, Christopher A A1 Hayes, Richard B A1 Henderson, Brian E A1 Hunter, David J A1 Kaaks, Rudolf A1 Kolonel, Laurence N A1 Le Marchand, Loic A1 Martínez, Carmen A1 Overvad, Kim A1 Siddiq, Afshan A1 Stampfer, Meir A1 Stattin, Pär A1 Stram, Daniel O A1 Thun, Michael J A1 Trichopoulos, Dimitrios A1 Tumino, Rosario A1 Virtamo, Jarmo A1 Weinstein, Stephanie J A1 Yeager, Meredith A1 Kraft, Peter A1 Freedman, Matthew L K1 Neoplasias de la próstata K1 Hormonas esteroides gonadales K1 Receptores androgénicos K1 Estudios de asociación genética K1 Estudios de cohortes AB Background: Androgens are key regulators of prostate gland maintenance and prostate cancer growth, and androgen deprivation therapy has been the mainstay of treatment for advanced prostate cancer for many years. A long-standing hypothesis has been that inherited variation in the androgen receptor (AR) gene plays a role in prostate cancer initiation. However, studies to date have been inconclusive and often suffered from small sample sizes. Objective and Methods: We investigated the association of AR sequence variants with circulating sex hormone levels and prostate cancer risk in 6058 prostate cancer cases and 6725 controls of Caucasian origin within the Breast and Prostate Cancer Cohort Consortium. We genotyped a highly polymorphic CAG microsatellite in exon 1 and six haplotype tagging single nucleotide polymorphisms and tested each genetic variant for association with prostate cancer risk and with sex steroid levels. Results: We observed no association between AR genetic variants and prostate cancer risk. However, there was a strong association between longer CAG repeats and higher levels of testosterone (P = 4.73 × 10−5) and estradiol (P = 0.0002), although the amount of variance explained was small (0.4 and 0.7%, respectively). Conclusions: This study is the largest to date investigating AR sequence variants, sex steroid levels, and prostate cancer risk. Although we observed no association between AR sequence variants and prostate cancer risk, our results support earlier findings of a relation between the number of CAG repeats and circulating levels of testosterone and estradiol. PB Endocrine Society YR 2010 FD 2010-09-01 LK http://hdl.handle.net/10668/392 UL http://hdl.handle.net/10668/392 LA es NO Lindström S, Ma J, Altshuler D, Giovannucci E, Riboli E, Albanes D, et al. A large study of androgen receptor germline variants and their relation to sex hormone levels and prostate cancer risk. Results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. J Clin Endocrinol Metab. 2010 Sep;95(9):E121-7 DS RISalud RD Apr 7, 2025