ECE2019 Poster Presentations Environment, Society and Governance (15 abstracts)
Genetic associations of vitamin D increase after supplementation
Olivia Trummer , Natascha Schweighofer 1, , Christoph W Haudum 2, , Christian Trummer 1 , Elisabeth Lerchbaum 1 , Thomas R Pieber 1, , Caterina Colantonio 1 , Ewald Kolesnik 4 , Albrecht Schmidt 1 , Burkert Pieske 1 & Barbara Obermayer-Pietsch 1,
1Medical University of Graz, Graz, Austria; 2Center for Biomarker Research in Medicine, Graz, Austria; 3Medical University of Graz, Graz, Azerbaijan; 4Medical University of Graz, Graz, Bahamas.
Apart from the crucial effects of vitamin D on bone health, vitamin D deficiency has been associated with various chronic conditions such as metabolic or reproductive disturbances. The polycystic ovary syndrome (PCOS) represents the most common endocrine disorder among women of reproductive age. Women affected by PCOS frequently suffer from oligo- or anovulation as well as from obesity and insulin resistance. There is accumulating evidence showing an association of vitamin D status with pathogenesis, signs and symptoms of PCOS, results from RCTS are, however, inconsistent. Genome wide association studies (GWAS) identified common genetic determinants of vitamin D insufficiency. Several genetic loci are located near genes which are involved in the metabolism of vitamin D. Genetics may further play a role in the body’s response to vitamin D after vitamin D supplementation. However, only a few studies have examined the impact of genetic variation in response to vitamin D intake so far. Aim of this study was to investigate genetic variants of vitamin D metabolizing genes in relation to baseline vitamin D levels (25-hydroxycholecalciferol, 25(OH)D) as well as vitamin D increase after vitamin D intake. We investigated 10 selected SNPs in two intervention studies (Vitamin D RCTS in women with PCOS and healthy women (RCT1), hypogonadal men and eugonadal men (RCT2) n=530), one prospective cohort study of osteoporosis patients with vitamin D intake (VitaGEN study, n=41) and one prospective cohort study of healthy individuals with one cardiovascular risk factor (BioPersMed study, n=963). The A-allel of GC_rs7041, the T-allel of GC_rs4588, the C-allel of GC_rs1155563 as well as the G-allel of VDR_rs2228570 were found, to be associated with lower baseline 25(OH)D levels in the 2 vitamin D RCTs according to a gene dose effect. VDR_rs2228570 was further confirmed in the BioPersMed replication study, whereas the other 3 polymorphisms showed no association. Remarkably, VDR_rs10783219 shows twice a borderline association (P≤0.1) in relation to vitamin D increase after supplementation in the RCT studies as well as in the VitaGEN study. Even not statistically significant, VDR_rs10783219 may be worth of further investigation in prospective studies.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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