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Polymorphisms in the CYP2R1 gene are associated with 25OHD3 and bone mineral density, but not with calcium and phosphate concentrations (MrOS Sweden).
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Family Medicine and Preventive Medicine.
Geriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, University of Gothenburg, Gothenburg Sweden. Centre for Bone and Arthritis Research at the Sahlgrenska Academy, Institute of Medicine, University of Gothenburg, Gothenburg, Sweden..
Geriatric Medicine, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, University of Gothenburg, Gothenburg Sweden. Centre for Bone and Arthritis Research at the Sahlgrenska Academy, Institute of Medicine, University of Gothenburg, Gothenburg, Sweden..
Department of Clinical Sciences and Orthopedic Surgery, Lund University, Skåne University Hospital, Malmö..
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(English)Manuscript (preprint) (Other academic)
National Category
Clinical Medicine
Research subject
Endocrinology and Diabetology
Identifiers
URN: urn:nbn:se:uu:diva-317312OAI: oai:DiVA.org:uu-317312DiVA: diva2:1081187
Available from: 2017-03-13 Created: 2017-03-13 Last updated: 2017-03-13
In thesis
1. Aspects of Vitamin D: Prevalence of deficiency and impact on musculoskeletal parameters
Open this publication in new window or tab >>Aspects of Vitamin D: Prevalence of deficiency and impact on musculoskeletal parameters
2017 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Vitamin D is central in calcium turnover, and adequate levels are important for skeletal health. It is not clear how large contributions from food and sunlight are in Swedish primary care patients, considering the low radiation of UVB in Sweden and fortification of some foods, and whether differences exist between patients of immigrant and Swedish origin. Increasing incidence of osteoporosis-related fractures is a major global health problem. Genetic variations in metabolising enzymes and in the Vitamin D receptor (VDR) have also been shown to be of importance to the overall effect of vitamin D. Polymorphic variation in the gene CYP2R1 encoding the 25-hydroxylase has previously been reported to correlate with circulating levels of 25(OH)D3. Results of association studies between genetic variants of the VDR and muscle strength, as well as falls have been contradictory.

The purposes of this thesis were to examine possible differences in plasma-25(OH)D3 levels and intake of vitamin D between Swedish and immigrant female primary care patients, to estimate what foods contribute the most, and to identify contributors to vitamin D status (Paper I-II). Furthermore, the relationship between polymorphisms in the CYP2R1 gene and levels of 25(OH)D3 as well as other biochemical parameters (parathyroid hormone, calcium, phosphate and fibroblast growth factor 23) of skeletal homeostasis, bone mineral density and incidence of fractures was investigated (Paper III). Also, the association between genetic variations in the gene for the vitamin D receptor and measures of muscle strength, physical performance and falls (Paper IV), was investigated by using data from a Swedish multicenter study of elderly men (MrOS).

Most important results: Vitamin D deficiency was common, with significant difference between Swedish born and immigrant patients (Paper I). Food intake of vitamin D is associated with circulating vitamin D, but the factors most strongly affecting vitamin D levels were reported sun holiday and origin (Paper II). CYP2R1 polymorphisms are associated with circulating levels of 25(OH)D3 and bone mineral density (Paper III). VDR genetic variants do not appear to have a direct effect on muscle strength or physical performance and incidence of falls in elderly Swedish men (Paper IV).

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2017. 47 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 1313
Keyword
Vitamin D, CYP2R1, Vitamin D receptor Gene, Polymorphisms, Muscle Strength
National Category
Family Medicine
Research subject
Endocrinology and Diabetology
Identifiers
urn:nbn:se:uu:diva-317315 (URN)978-91-554-9852-8 (ISBN)
Public defence
2017-05-04, A1:111a, Biomedicinskt centrum, Uppsala, 13:00 (Swedish)
Opponent
Supervisors
Available from: 2017-04-12 Created: 2017-03-13 Last updated: 2017-04-21

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