A SULT2A1 genetic variant identified by GWAS as associated with low serum DHEAS does not impact on the actual DHEA/DHEAS ratio
| العنوان: | A SULT2A1 genetic variant identified by GWAS as associated with low serum DHEAS does not impact on the actual DHEA/DHEAS ratio |
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| المؤلفون: | Henri Wallaschofski, Uwe Völker, Heyo K. Kroemer, Robin Haring, M Nauck, G. Homuth, Angela E Taylor, A. Teumer, Cedric H. L. Shackleton, Wiebke Arlt |
| المصدر: | Journal of Molecular Endocrinology |
| بيانات النشر: | Bioscientifica, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Adult, endocrine system, medicine.medical_specialty, Genotype, DHEAS, Population, Single-nucleotide polymorphism, Biology, Cohort Studies, Endocrinology, Tandem Mass Spectrometry, Germany, Internal medicine, polycyclic compounds, medicine, Humans, SNP, genetics, Androstenedione, skin and connective tissue diseases, education, Molecular Biology, Aged, education.field_of_study, genome-wide association study, Dehydroepiandrosterone Sulfate, Research, Dehydroepiandrosterone, Middle Aged, Sex steroid, epidemiology, Sulfotransferases, Cortisone, human activities, hormones, hormone substitutes, and hormone antagonists, Chromatography, Liquid, steroids, medicine.drug, Hormone |
| الوصف: | DHEA is the major precursor of human sex steroid synthesis and is inactivated via sulfonation to DHEAS. A previous genome-wide association study related the single nucleotide polymorphism (SNP) rs2637125, located near the coding region of DHEA sulfotransferase, SULT2A1, to serum DHEAS concentrations. However, the functional relevance of this SNP with regard to DHEA sulfonation is unknown. Using data from 3300 participants of the population-based cohort Study of Health in Pomerania, we identified 43 individuals being homozygote for the minor allele of the SNP rs2637125 (AA) and selected two sex- and age-matched individuals with AG and GG genotype (n=172) respectively. Steroid analysis including measurement of serum DHEA and DHEAS was carried out by liquid chromatography/mass spectrometry, employing steroid oxime analysis for enhancing the sensitivity of DHEA detection. We applied quantile regression models to compare median hormone levels across SULT2A1 genotypes. Median comparisons by SULT2A1 genotype (AA vs AG and GG genotypes respectively) showed no differences in the considered hormones including DHEAS, DHEA, androstenedione, as well as cortisol and cortisone concentrations. SULT2A1 genotype also had no effect on the DHEA/DHEAS ratio. Sex-stratified analyses, as well as alternative use of the SULT2A1 SNP rs182420, yielded similar negative results. Genetic variants of SULT2A1 do not appear to have an effect on individual DHEA and DHEAS concentrations or the DHEA/DHEAS ratio as a marker of DHEA sulfonation capacity. |
| تدمد: | 1479-6813 0952-5041 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f63bb00cb5692596d32db088db26f60Test https://doi.org/10.1530/jme-12-0185Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....7f63bb00cb5692596d32db088db26f60 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14796813 09525041 |
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