ArticleHuman molecular genetics2012
Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 4 of them syntheses that pooled it.
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Who cites it
55 citing papers in PubMed, 4 syntheses or guidelines pooled it, 88 citations in OpenAlex.
- Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.Nature communications · 2025Pooled it
- Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.Human molecular genetics · 2018Pooled it
- Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.Nature communications · 2017Pooled it
- Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.PLoS genetics · 2016Pooled it
- Identification of MEF2A, MEF2C, and MEF2D interactomes in basal and Fsk-stimulated mouse MA-10 Leydig cells.Andrology · 2026Article
- Overlapping genetic etiology of pediatric and adult germ cell tumors.Journal of the National Cancer Institute · 2026Article
- Understanding the Secular Decline in Testosterone: Mechanisms, Consequences, and Clinical Perspectives.International journal of molecular sciences · 2026Review
- Genetic determinants of plasma testosterone in male blood donors are associated with altered red blood cell characteristics and survival in cold storage and after transfusion.Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis · 2024Article
- Whole-Genome Resequencing Reveals Selection Signal Related to Sheep Wool Fineness.Animals : an open access journal from MDPI · 2023Article
- Genetic regulation of testosterone level in overweight males from the Kazakh population and its association with hypogonadism.Journal of medicine and life · 2023Article
- Statistical methods for cis-Mendelian randomization with two-sample summary-level data.Genetic epidemiology · 2023Review
- Association of sex hormones and sex hormone-binding globulin with liver fat in men and women: an observational and Mendelian randomization study.Frontiers in endocrinology · 2023Observational
- Lrriq1 is an essential factor for fertility by suppressing apoptosis.Journal of assisted reproduction and genetics · 2022Article
- Role of sex hormone-binding globulin in the free hormone hypothesis and the relevance of free testosterone in androgen physiology.Cellular and molecular life sciences : CMLS · 2022Review
- Identification of key genes and pathways associated with sex difference in osteoarthritis based on bioinformatics analysis.Journal of musculoskeletal & neuronal interactions · 2022Article
- Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.Nature communications · 2022Article
- Genetic determinants of chromatin reveal prostate cancer risk mediated by context-dependent gene regulation.Nature genetics · 2022Article
- Genetic Variation and Mendelian Randomization Approaches.Advances in experimental medicine and biology · 2022Article
- Association of Genetically Predicted Serum Estradiol With Risk of Thromboembolism in Men: A Mendelian Randomization Study.The Journal of clinical endocrinology and metabolism · 2021Article
- Lower androgen levels promote abnormal cartilage development in female patients with adolescent idiopathic scoliosis.Annals of translational medicine · 2021Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
Circulating androgen levels are often used as indicators of physiological or pathological conditions. More than half of the variance for circulating androgen levels is thought to be genetically influenced. A genome-wide association study (GWAS) has identified two loci, SHBG at 17p13 and FAM9B at Xp22, for serum testosterone (T) levels; however, these explain only a small fraction of inter-individual variability. To identify additional genetic determinants of androgen levels, a GWAS of baseline serum T and dihydrotestosterone (DHT) levels was conducted in 3225 men of European ancestry from the REduction by DUtasteride of Prostate Cancer Events (REDUCE) study. Cross-validation was used to confirm the observed associations between the drug (n = 1581) and placebo (n = 1644) groups of REDUCE. In addition to confirming the associations of two known loci with serum T levels (rs727428 in SHBG: P = 1.26 × 10(-12); rs5934505 in FAM9B: P = 1.61 × 10(-8)), we identified a new locus, JMJD1C at 10q21 that was associated with serum T levels at a genome-wide significance level (rs10822184: P = 1.12 × 10(-8)). We also observed that the SHBG locus was associated with serum DHT levels (rs727428: P = 1.47 × 10(-11)). Moreover, two additional variants in SHBG [rs72829446, in strong linkage equilibrium with the missense variant D356N (rs6259), and rs1799941] were also independently associated with circulating androgen levels in a statistical scale. These three loci (JMJD1C, SHBG and FAM9B) were estimated to account for ~5.3 and 4.1% of the variance of serum T and DHT levels. Our findings may provide new insights into the regulation of circulating androgens and potential targets for androgen-based therapy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.