来自美国国立癌症研究所乳腺癌和前列腺癌队列联盟（BPC3）的预测男性循环性激素的数量性状基因座。
Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3).
作者信息
Ahn Jiyoung, Schumacher Fredrick R, Berndt Sonja I, Pfeiffer Ruth, Albanes Demetrius, Andriole Gerald L, Ardanaz Eva, Boeing Heiner, Bueno-de-Mesquita Bas, Chanock Stephen J, Clavel-Chapelon Françoise, Diver W Ryan, Feigelson Heather Spencer, Gaziano J Michael, Giovannucci Edward, Haiman Christopher A, Henderson Brian E, Hoover Robert N, Kolonel Laurence N, Kraft Peter, Ma Jing, Le Marchand Loïc, Overvad Kim, Palli Domenico, Stattin Pär, Stampfer Meir, Stram Daniel O, Thomas Gilles, Thun Michael J, Travis Ruth C, Trichopoulos Dimitrios, Virtamo Jarmo, Weinstein Stephanie J, Yeager Meredith, Kaaks Rudolf, Hunter David J, Hayes Richard B
机构信息
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
出版信息
Hum Mol Genet. 2009 Oct 1;18(19):3749-57. doi: 10.1093/hmg/ddp302. Epub 2009 Jul 2.
Twin studies suggest a heritable component to circulating sex steroid hormones and sex hormone-binding globulin (SHBG). In the NCI-Breast and Prostate Cancer Cohort Consortium, 874 SNPs in 37 candidate genes in the sex steroid hormone pathway were examined in relation to circulating levels of SHBG (N = 4720), testosterone (N = 4678), 3 alpha-androstanediol-glucuronide (N = 4767) and 17beta-estradiol (N = 2014) in Caucasian men. rs1799941 in SHBG is highly significantly associated with circulating levels of SHBG (P = 4.52 x 10(-21)), consistent with previous studies, and testosterone (P = 7.54 x 10(-15)), with mean difference of 26.9 and 14.3%, respectively, comparing wild-type to homozygous variant carriers. Further noteworthy novel findings were observed between SNPs in ESR1 with testosterone levels (rs722208, mean difference = 8.8%, P = 7.37 x 10(-6)) and SRD5A2 with 3 alpha-androstanediol-glucuronide (rs2208532, mean difference = 11.8%, P = 1.82 x 10(-6)). Genetic variation in genes in the sex steroid hormone pathway is associated with differences in circulating SHBG and sex steroid hormones.
双胞胎研究表明，循环中的性类固醇激素和性激素结合球蛋白（SHBG）存在遗传成分。在国立癌症研究所乳腺癌和前列腺癌队列联盟中，研究了性类固醇激素途径中37个候选基因的874个单核苷酸多态性（SNP）与白人男性循环中的SHBG水平（N = 4720）、睾酮水平（N = 4678）、3α-雄甾二醇葡萄糖醛酸苷水平（N = 4767）和17β-雌二醇水平（N = 2014）之间的关系。SHBG基因中的rs1799941与循环中的SHBG水平高度显著相关（P = 4.52×10⁻²¹），这与之前的研究一致，并且与睾酮水平也高度显著相关（P = 7.54×10⁻¹⁵），将野生型与纯合变异携带者进行比较时，平均差异分别为26.9%和14.3%。在ESR1基因的SNP与睾酮水平之间（rs722208，平均差异 = 8.8%，P = 7.37×10⁻⁶）以及SRD5A2基因的SNP与3α-雄甾二醇葡萄糖醛酸苷水平之间（rs2208532，平均差异 = 11.8%，P = 1.82×10⁻⁶）观察到了进一步值得注意的新发现。性类固醇激素途径中基因的遗传变异与循环中的SHBG和性类固醇激素差异相关。
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