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Journal article
Relationship of SULT1A1 copy number variation with estrogen metabolism and human health
The Journal of steroid biochemistry and molecular biology, v 174, pp 169-175
01 Nov 2017
PMID: 28867356
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Human cytosolic sulfotransferase 1A1 (SULT1A1) is considered to be one of the most important SULT isoforms for metabolism, detoxification, and carcinogenesis. This theory is driven by observations that SULT1A1 is widely expressed in multiple tissues and acts on a wide range of phenolic substrates. SULT1A1 is subject to functional common copy number variation (CNV) including deletions or duplications. However, it is less clear how SULT1A1 CNV impacts health and disease. To better understand the biological role of SULT1A1 in human health, we genotyped CNV in 14,275 Marshfield Clinic patients linked to an extensive electronic health record. Since SULT1A1 is linked to steroid metabolism, select serum steroid hormones were measured in 100 individuals with a wide spectrum of SULT1A1 CNV genotypes. Furthermore, comprehensive phenome-wide association studies (PheWAS) were conducted using diagnostic codes and clinical text data. For the first time, individuals homozygous null for SULT1A1 were identified in a human population. Thirty-six percent of the population carried > 2 copies of SULT1A1 whereas 4% had <= 1 copy. Results indicate SULT1A1 CNV was negatively correlated with estrone-sulfate to estrone ratio predominantly in males (E1S/E1; p = 0.03, r = 0.21) and may be associated with increased risk for common allergies. The effect of SULT1A1 CNV on circulating estrogen metabolites was opposite to the predicted CNV-metabolite trend based on enzymatic function. This finding, and the potential association with common allergies reported herein, warrants future studies.
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- Title
- Relationship of SULT1A1 copy number variation with estrogen metabolism and human health
- Creators
- Jixia Liu - Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA;Ran Zhao - Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA;Zhan Ye - Marshfield ClinicAlexander J. Frey - Drexel UniversityEmily R. Schriver - Drexel UniversityNathaniel W. Snyder - Drexel UniversityScott J. Hebbring - Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI, USA;
- Publication Details
- The Journal of steroid biochemistry and molecular biology, v 174, pp 169-175
- Publisher
- Elsevier
- Number of pages
- 7
- Grant note
- UL1TR000427 / National Institutes of Health National Center for Advancing Translations Sciences U01HG006389 / National Human Genome Research Institute; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) UL1TR000427 / NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Advancing Translational Sciences (NCATS) K22ES026235 / National Institute of Environmental Health Sciences; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Environmental Health Sciences (NIEHS) K22LM011938 / National Library of Medicine; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Library of Medicine (NLM) R01GM114128 / National Institute of General Medical Science; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of General Medical Sciences (NIGMS) R21HD087866 / EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) R01GM114128 / NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of General Medical Sciences (NIGMS)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- A.J. Drexel Autism Institute
- Web of Science ID
- WOS:000414880600021
- Scopus ID
- 2-s2.0-85029604180
- Other Identifier
- 991019168087204721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Biochemistry & Molecular Biology
- Endocrinology & Metabolism