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Ljunggren, Östen
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Publications (10 of 143) Show all publications
Lauppe, R., Åkesson, K. E., Ljunggren, Ö., Spangeus, A., Ortsater, G., Feudjo-Tepie, M. & Strom, O. (2019). Differing impact of clinical factors on the risk of fracture in younger and older women in the general population and an osteoporosis clinic population. Archives of Osteoporosis, 14(1), Article ID 45.
Open this publication in new window or tab >>Differing impact of clinical factors on the risk of fracture in younger and older women in the general population and an osteoporosis clinic population
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2019 (English)In: Archives of Osteoporosis, ISSN 1862-3514, Vol. 14, no 1, article id 45Article in journal (Refereed) Published
Abstract [en]

This study assesses the impact of risk factors for fracture in women aged 80+ and 60-79. The results suggest that risk assessment which fits younger women may not be suited for the 80+ strata as many common risk factors are less predictive in the older compared to the younger cohort. Purpose This study assesses whether the impact of classical risk factors for fracture due to osteoporosis is different in women aged 80+ and women aged 60-79. Since most prior research on the contribution of risk factors is based on patients below 80years of age, this study aims to fill this knowledge gap to increase the accuracy of risk assessment in the oldest old. Methods Retrospective, observational cohort study using Swedish national health register data and BMD data from osteoporosis clinics. Women aged at least 60 were identified from a random sample of the general population and from the BMD databases and allocated to two populations representing patients at different stages of risk assessment. The relative impact of risk factors on fracture risk was assessed using multivariate competing risk regression with fracture as outcome and death as competing event. Results A total of 163,329 women were included from the general population (52,499 aged 80+) and 22,378 from the BMD databases (4563 aged 80+). The clinical risk factors with relatively highest effect on fracture risk in the older patients were prior fracture and hip T-score below -2.5 SD. Other included risk factors showed lower impact in the older compared to the younger strata. Conclusions This study confirms our understanding of the key risk factors for fracture: age, prior fracture, and a low T-score. Regarding remaining risk factors, risk assessment which fits younger women may not be suited for the 80+ strata as many common risk factors are less predictive in the older compared to the younger cohort.

Place, publisher, year, edition, pages
SPRINGER LONDON LTD, 2019
Keywords
Clinical risk factors, Elderly, Fractures, Population based, Retrospective, Risk assessment
National Category
Orthopaedics
Identifiers
urn:nbn:se:uu:diva-382561 (URN)10.1007/s11657-019-0592-3 (DOI)000463984800001 ()30963310 (PubMedID)
Available from: 2019-05-03 Created: 2019-05-03 Last updated: 2019-05-03Bibliographically approved
Karasik, D., Zillikens, M. C., Hsu, Y.-H., Aghdassi, A., Akesson, K., Amin, N., . . . Ohlsson, C. (2019). Disentangling the genetics of lean mass. American Journal of Clinical Nutrition, 109(2), 276-287
Open this publication in new window or tab >>Disentangling the genetics of lean mass
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2019 (English)In: American Journal of Clinical Nutrition, ISSN 0002-9165, E-ISSN 1938-3207, Vol. 109, no 2, p. 276-287Article in journal (Refereed) Published
Abstract [en]

Background: Lean body mass (LM) plays an important role in mobility and metabolic function. We previously identified five loci associated with LM adjusted for fat mass in kilograms. Such an adjustment may reduce the power to identify genetic signals having an association with both lean mass and fat mass. Objectives: To determine the impact of different fat mass adjustments on genetic architecture of LM and identify additional LM loci. Methods: We performed genome-wide association analyses for whole-body LM (20 cohorts of European ancestry with n = 38,292) measured using dual-energy X-ray absorptiometry) or bioelectrical impedance analysis, adjusted for sex, age, age(2), and height with or without fat mass adjustments (Model 1 no fat adjustment; Model 2 adjustment for fat mass as a percentage of body mass; Model 3 adjustment for fat mass in kilograms). Results: Seven single-nucleotide polymorphisms (SNPs) in separate loci, including one novel LM locus (TNRC6B), were successfully replicated in an additional 47,227 individuals from 29 cohorts. Based on the strengths of the associations in Model 1 vs Model 3, we divided the LM loci into those with an effect on both lean mass and fat mass in the same direction and refer to those as "sumo wrestler" loci (FTO and MC4R). In contrast, loci with an impact specifically on LMwere termed "body builder" loci (VCAN and ADAMTSL3). Using existing available genome-wide association study databases, LM increasing alleles of SNPs in sumo wrestler loci were associated with an adverse metabolic profile, whereas LM increasing alleles of SNPs in "body builder" loci were associated with metabolic protection. Conclusions: In conclusion, we identified one novel LM locus (TNRC6B). Our results suggest that a genetically determined increase in lean mass might exert either harmful or protective effects on metabolic traits, depending on its relation to fat mass.

Place, publisher, year, edition, pages
Oxford University Press, 2019
Keywords
body composition, skeletal muscle, body fat, meta-analysis of genome-wide association studies, metabolic profile
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-380499 (URN)10.1093/ajcn/nqy272 (DOI)000460615600007 ()30721968 (PubMedID)
Available from: 2019-04-23 Created: 2019-04-23 Last updated: 2019-04-23Bibliographically approved
Clewemar, P., Hailer, N. P., Hailer, Y., Klar, J., Kindmark, A., Ljunggren, Ö. & Stattin, E.-L. (2019). Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments. Molecular Genetics & Genomic Medicine, 7(7), Article ID e00723.
Open this publication in new window or tab >>Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
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2019 (English)In: Molecular Genetics & Genomic Medicine, ISSN 2324-9269, Vol. 7, no 7, article id e00723Article in journal (Refereed) Published
Abstract [en]

Background

Osteogenesis imperfecta (OI) is a clinical and genetic heterogeneous group of connective tissue disorders, characterized by bone fragility and a propensity to fracture.

Methods

In this report we describe the clinical phenotype of two patients, a 28‐year‐old woman and her mother (54 years old), both with a history of short stature and multiple fractures.

Results

Exome sequencing revealed the recurring IFITM5:c.‐14 C>T variant causing OI type V. Both patients had several fractures during childhood. CT‐scan and scintigraphy showed ossification of the origin and attachment of muscles and hypertrophic callus formation.

Conclusion

Ossification of the origin and attachment of muscles seems to be part of the phenotype in patients with OI type V.

Keywords
BRIL, heterotopic ossification, IFITM5, Osteogenesis imperfecta type V
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-387239 (URN)10.1002/mgg3.723 (DOI)000475675000062 ()31099171 (PubMedID)
Available from: 2019-06-20 Created: 2019-06-20 Last updated: 2019-08-15Bibliographically approved
Banefelt, J., Akesson, K. E., Spangeus, A., Ljunggren, Ö., Karlsson, L., Strom, O., . . . Toth, E. (2019). Risk of imminent fracture following a previous fracture in a Swedish database study. Osteoporosis International, 30(3), 601-609
Open this publication in new window or tab >>Risk of imminent fracture following a previous fracture in a Swedish database study
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2019 (English)In: Osteoporosis International, ISSN 0937-941X, E-ISSN 1433-2965, Vol. 30, no 3, p. 601-609Article in journal (Refereed) Published
Abstract [en]

The SummaryThis study examined the imminent risk of a future fracture within 1 and 2years following a first fracture in women aged 50years and older and assessed independent factors associated with risk of subsequent fractures. The study highlights the need to intervene rapidly after a fracture to prevent further fractures.IntroductionThis study aims to determine the imminent risk of subsequent fractures within 1 and 2years following a first fracture and to assess independent factors associated with subsequent fractures.MethodsRetrospective, observational cohort study of women aged 50years with a fragility fracture was identified from Swedish national registers. Clinical/demographic characteristics at the time of index fracture and cumulative fracture incidences up to 12 and 24months following index fracture were calculated. Risk factors for subsequent fracture were identified using multivariate regression analysis.ResultsTwo hundred forty-two thousand one hundred eight women (mean [SD] age 74 [12.5] years) were included. The cumulative subsequent fracture incidence at 12months was 7.1% (95% confidence interval [CI], 6.9-7.2) and at 24months was 12.0% (95% CI, 11.8-12.1). The rate of subsequent fractures was highest in the first month (similar to 15 fractures per 1000 patient-years) and remained steady between 4 and 24months (similar to 5 fractures/1000 patient-years). Higher age was an independent risk factor for imminent subsequent fractures (at 24months, sub-distribution hazard ratio [HR], 3.07; p<0.001 for women 80-89years [reference 50-59years]). Index vertebral fracture was a strong independent risk factor for subsequent fracture (sub-distribution HR, 2.72 versus hip fracture; p<0.001 over 12months; HR, 2.23; p<0.001 over 24months).ConclusionsOur findings highlight the need to intervene rapidly after any fragility fracture in postmenopausal women. The occurrence of a fragility fracture provides healthcare systems with a unique opportunity to intervene to reduce the increased risk of subsequent fractures.

Keywords
Fracture risk, Fragility fracture, Near-term, Osteoporosis
National Category
Orthopaedics
Identifiers
urn:nbn:se:uu:diva-381090 (URN)10.1007/s00198-019-04852-8 (DOI)000461576600008 ()30680431 (PubMedID)
Available from: 2019-04-23 Created: 2019-04-23 Last updated: 2019-04-23Bibliographically approved
Björk, A., Ribom, E., Johansson, G., Scragg, R., Mellstrom, D., Grundberg, E., . . . Kindmark, A. (2019). Variations in the vitamin D receptor gene are not associated with measures of muscle strength, physical performance, or falls in elderly men: Data from MrOS Sweden. Journal of Steroid Biochemistry and Molecular Biology, 187, 160-165
Open this publication in new window or tab >>Variations in the vitamin D receptor gene are not associated with measures of muscle strength, physical performance, or falls in elderly men: Data from MrOS Sweden
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2019 (English)In: Journal of Steroid Biochemistry and Molecular Biology, ISSN 0960-0760, E-ISSN 1879-1220, Vol. 187, p. 160-165Article in journal (Refereed) Published
Abstract [en]

The vitamin D receptor (VDR) has been proposed as a candidate gene for several musculoskeletal phenotypes. However, previous results on the associations between genetic variants of the VDR with muscle strength and falls have been contradictory. The MrOS Sweden survey, a prospective population-based cohort study of 3014 elderly men (mean age 75 years, range 69-81) offered the opportunity to further investigate these associations. At baseline, data were collected on muscle strength and also the prevalence of falls during the previous 12 months. Genetic association analysis was performed for 7 Single Nucleotide Polymorphisms (SNPs), covering the genetic region surrounding the VDR gene in 2924 men with available samples of DNA. Genetic variations in the VDR were not associated with five different measurements of muscle strength or physical performance (hand grip strength right and left, 6 m walking test (easy and narrow) and timed-stands test). However, one of the 7 SNPs of the gene for the VDR receptor, rs7136534, was associated with prevalence of falls (33.6% of the AA, 14.6% of the AG and 16.5% of the GG allele). In conclusion, VDR genetic variants are not related to muscle strength or physical performance in elderly Swedish men. The role of the rs7136534 SNP for the occurrence of falls is not clear.

Keywords
Vitamin D receptor gene, Polymorphisms, Muscle strength, Physical performance, Falls
National Category
Geriatrics Endocrinology and Diabetes
Identifiers
urn:nbn:se:uu:diva-379342 (URN)10.1016/j.jsbmb.2018.11.014 (DOI)000459952100021 ()30476589 (PubMedID)
Funder
Swedish Research Council, 2016-01001Knut and Alice Wallenberg Foundation, KAW 2015.0317Torsten Söderbergs stiftelseNovo Nordisk
Available from: 2019-03-15 Created: 2019-03-15 Last updated: 2019-03-15Bibliographically approved
Jonsson, E., Hansson-Hedblom, A., Ljunggren, Ö., Akesson, K., Spangeus, A., Kanis, J. A. & Borgstrom, F. (2018). A health economic simulation model for the clinical management of osteoporosis. Osteoporosis International, 29(3), 545-555
Open this publication in new window or tab >>A health economic simulation model for the clinical management of osteoporosis
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2018 (English)In: Osteoporosis International, ISSN 0937-941X, E-ISSN 1433-2965, Vol. 29, no 3, p. 545-555Article in journal (Refereed) Published
Abstract [en]

The objective was to estimate the burden of osteoporosis in Sweden based on current clinical practice and the cost-effectiveness of improvements in the management of osteoporosis over the clinical management compared to current clinical practice. Results showed that better compliance to treatment guidelines is associated with better projected outcomes and cost-savings.

Introduction

The purpose of this study is to estimate the burden of osteoporosis in Sweden based on current clinical practice and the cost-effectiveness of improvements in the management of osteoporosis over the clinical management compared to current clinical practice.

Methods

The analysis was carried out using a model that simulates the individual patients considered for pharmacological treatment during 1 year and their projected osteoporosis treatment pathway, quality-adjusted life years (QALYs) and costs over their remaining lifetime. All patients regardless of treatment or no treatment were simulated. Information on current management of osteoporosis in terms of patient characteristics and treatment patterns were derived from a Swedish osteoporosis research database based on national registers and patient records. Current (standard) clinical management was compared with alternative scenarios mirroring Swedish treatment guidelines.

Results

The national burden in terms of lost QALYs was estimated at 14,993 QALYs and the total economic cost at €776M. Scenario analyses showed that 382–3864 QALYs could be gained at a cost/QALY ranging from cost-saving to €31368, depending on the scenario. The margin of investment, i.e. the maximum amount that could be invested in the healthcare system to achieve these improvements up to the limit of the willingness to pay/QALY, was estimated at €199M on a population level (€3,634/patient).

Conclusions

The analysis showed that better compliance to treatment guidelines is associated with better projected outcomes and cost-savings. From a cost-effectiveness perspective, there is also considerable room for investment to achieve these improvements in the management of osteoporosis.

Keywords
Cost, Fracture, Osteoporosis, Quality-of-life, Register, Sweden
National Category
Health Care Service and Management, Health Policy and Services and Health Economy Clinical Medicine
Identifiers
urn:nbn:se:uu:diva-351263 (URN)10.1007/s00198-017-4325-4 (DOI)000426646900003 ()29196775 (PubMedID)
Available from: 2018-06-11 Created: 2018-06-11 Last updated: 2018-06-11Bibliographically approved
Napoli, N., Langdahl, B. L. L., Ljunggren, Ö., Lespessailles, E., Kapetanos, G., Kocjan, T., . . . Marin, F. (2018). Effects of Teriparatide in Patients with Osteoporosis in Clinical Practice: 42-Month Results During and After Discontinuation of Treatment from the European Extended Forsteo (R) Observational Study (ExFOS). Calcified Tissue International, 103(4), 359-371
Open this publication in new window or tab >>Effects of Teriparatide in Patients with Osteoporosis in Clinical Practice: 42-Month Results During and After Discontinuation of Treatment from the European Extended Forsteo (R) Observational Study (ExFOS)
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2018 (English)In: Calcified Tissue International, ISSN 0171-967X, E-ISSN 1432-0827, Vol. 103, no 4, p. 359-371Article in journal (Refereed) Published
Abstract [en]

This study aimed to describe clinical outcomes in patients prescribed teriparatide and followed up for 18months after stopping the drug in real-life conditions. The Extended Forsteo (R) Observational Study analysed incident clinical fractures in 6-month intervals using logistic regression with repeated measures. Changes in back pain (visual analogue scale) and health-related quality of life (HRQoL; EQ-5D questionnaire) were analysed using mixed models for repeated measures. Patients were analysed if they had a post-baseline visit, regardless of whether and for how long they took teriparatide. Of 1531 patients analysed (90.7% female, mean age: 70.3years), 76 (5.0%) never took teriparatide. Median treatment duration was 23.6months. The adjusted odds of clinical fracture decreased by 47% in the >12- to 18-month treatment period (p=0.013) compared with the first 6-month period, with no statistically significant reduction in the >18- to 24-month interval. The clinical fracture rate remained stable during the 18 months' post-teriparatide, when approximately 98% of patients took osteoporosis medication (51% bisphosphonates). Clinical vertebral fractures were reduced at every time period compared with the first 6months. Adjusted mean back pain scores decreased and EQ-5D scores increased significantly at each post-baseline observation. In a real-life clinical setting, the risk of clinical fractures declined during 24months of teriparatide treatment. This reduction was maintained 18months after stopping teriparatide. In parallel, patients reported significant improvements in back pain and HRQoL. The results should be interpreted in the context of the non-controlled design of this observational study.

Place, publisher, year, edition, pages
SPRINGER, 2018
Keywords
Back pain, Fracture, Observational study, Osteoporosis, Quality of life, Teriparatide
National Category
Endocrinology and Diabetes
Identifiers
urn:nbn:se:uu:diva-365280 (URN)10.1007/s00223-018-0437-x (DOI)000444448000001 ()29909449 (PubMedID)
Funder
Eli Lilly and Company
Available from: 2018-11-13 Created: 2018-11-13 Last updated: 2018-11-13Bibliographically approved
Harvey, N. C., Oden, A., Orwoll, E., Lapidus, J., Kwok, T., Karlsson, M. K., . . . Johansson, H. (2018). Falls Predict Fractures Independently of FRAX Probability: A Meta-Analysis of the Osteoporotic Fractures in Men (MrOS) Study. Journal of Bone and Mineral Research, 33(3), 510-516
Open this publication in new window or tab >>Falls Predict Fractures Independently of FRAX Probability: A Meta-Analysis of the Osteoporotic Fractures in Men (MrOS) Study
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2018 (English)In: Journal of Bone and Mineral Research, ISSN 0884-0431, E-ISSN 1523-4681, Vol. 33, no 3, p. 510-516Article in journal (Refereed) Published
Abstract [en]

Although prior falls are a well-established predictor of future fracture, there is currently limited evidence regarding the specific value of falls history in fracture risk assessment relative to that of other clinical risk factors and bone mineral density (BMD) measurement. We therefore investigated, across the three Osteoporotic Fractures in Men (MrOS) Study cohorts, whether past falls predicted future fracture independently of FRAX and whether these associations varied with age and follow-up time. Elderly men were recruited from MrOS Sweden, Hong Kong, and USA. Baseline data included falls history (over the preceding 12 months), clinical risk factors, BMD at femoral neck, and calculated FRAX probabilities. An extension of Poisson regression was used to investigate the associations between falls, FRAX probability, and incident fracture, adjusting for age, time since baseline, and cohort in base models; further models were used to investigate interactions with age and follow-up time. Random-effects meta-analysis was used to synthesize the individual country associations. Information on falls and FRAX probability was available for 4365 men in USA (mean age 73.5 years; mean follow-up 10.8 years), 1823 men in Sweden (mean age 75.4 years; mean follow-up 8.7 years), and 1669 men in Hong Kong (mean age 72.4 years; mean follow-up 9.8 years). Rates of past falls were similar at 20%, 16%, and 15%, respectively. Across all cohorts, past falls predicted incident fracture at any site (hazard ratio [HR]=1.69; 95% confidence interval [CI] 1.49, 1.90), major osteoporotic fracture (MOF) (HR=1.56; 95% CI 1.33, 1.83), and hip fracture (HR=1.61; 95% CI 1.27, 2.05). Relationships between past falls and incident fracture remained robust after adjustment for FRAX probability: adjusted HR (95% CI) any fracture: 1.63 (1.45, 1.83); MOF: 1.51 (1.32, 1.73); and hip: 1.54 (1.21, 1.95). In conclusion, past falls predicted incident fracture independently of FRAX probability, confirming the potential value of falls history in fracture risk assessment.

Place, publisher, year, edition, pages
WILEY, 2018
Keywords
OSTEOPOROSIS, EPIDEMIOLOGY, FRAX, FALLS, FRACTURE, INTERACTION
National Category
Orthopaedics Endocrinology and Diabetes
Identifiers
urn:nbn:se:uu:diva-350898 (URN)10.1002/jbmr.3331 (DOI)000426731100017 ()29220072 (PubMedID)
Funder
Swedish Research Council
Available from: 2018-05-17 Created: 2018-05-17 Last updated: 2018-05-17Bibliographically approved
Robinson-Cohen, C., Bartz, T. M., Lai, D., Ikizler, T. A., Peacock, M., Imel, E. A., . . . Kestenbaum, B. R. (2018). Genetic Variants Associated with Circulating Fibroblast Growth Factor 23. Journal of the American Society of Nephrology, 29(10), 2583-2592
Open this publication in new window or tab >>Genetic Variants Associated with Circulating Fibroblast Growth Factor 23
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2018 (English)In: Journal of the American Society of Nephrology, ISSN 1046-6673, E-ISSN 1533-3450, Vol. 29, no 10, p. 2583-2592Article in journal (Refereed) Published
Abstract [en]

Background: Fibroblast growth factor 23 (FGF23), a bone-derived hormone that regulates phosphorus and vitamin D metabolism, contributes to the pathogenesis of mineral and bone disorders in CKD and is an emerging cardiovascular risk factor. Central elements of FGF23 regulation remain incompletely understood; genetic variation may help explain interindividual differences.

Methods: We performed a meta-analysis of genome-wide association studies of circulating FGF23 concentrations among 16,624 participants of European ancestry from seven cohort studies, excluding participants with eGFR<30 ml/min per 1.73 m(2) to focus on FGF23 under normal conditions. We evaluated the association of single-nucleotide polymorphisms (SNPs) with natural log-transformed FGF23 concentration, adjusted for age, sex, study site, and principal components of ancestry. A second model additionally adjusted for BMI and eGFR.

Results: We discovered 154 SNPs from five independent regions associated with FGF23 concentration. The SNP with the strongest association, rs17216707 (P=3.0x10(-24)), lies upstream of CYP24A1, which encodes the primary catabolic enzyme for 1,25-dihydroxyvitamin D and 25-hydroxyvitamin D. Each additional copy of the T allele at this locus is associated with 5% higher FGF23 concentration. Another locus strongly associated with variations in FGF23 concentration is rs11741640, within RGS14 and upstream of SLC34A1 (a gene involved in renal phosphate transport). Additional adjustment for BMI and eGFR did not materially alter the magnitude of these associations. Another top locus (within ABO, the ABO blood group transferase gene) was no longer statistically significant at the genome-wide level.

Conclusions: Common genetic variants located near genes involved in vitamin D metabolism and renal phosphate transport are associated with differences in circulating FGF23 concentrations.

Place, publisher, year, edition, pages
AMER SOC NEPHROLOGY, 2018
Keywords
human genetics, fibroblast growth factor 23, mineral metabolism
National Category
Urology and Nephrology
Identifiers
urn:nbn:se:uu:diva-369511 (URN)10.1681/ASN.2018020192 (DOI)000448256700016 ()30217807 (PubMedID)
Funder
Swedish Research CouncilSwedish Research Council, K2009-53X-14691-07-3
Available from: 2018-12-17 Created: 2018-12-17 Last updated: 2018-12-17Bibliographically approved
Björk, A., Mellström, D., Ohlsson, C., Karlsson, M., Mallmin, H., Johansson, G., . . . Kindmark, A. (2018). Haplotypes in the CYP2R1 gene are associated with levels of 25(OH)D and bone mineral density, but not with other markers of bone metabolism (MrOS Sweden). PLoS ONE, 13(12), Article ID e0209268.
Open this publication in new window or tab >>Haplotypes in the CYP2R1 gene are associated with levels of 25(OH)D and bone mineral density, but not with other markers of bone metabolism (MrOS Sweden)
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2018 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 13, no 12, article id e0209268Article in journal (Refereed) Published
Abstract [en]

Objective: Polymorphisms in the CYP2R1 gene encoding Vitamin D 25-hydroxylase have been reported to correlate with circulating levels of 25-OH vitamin D3 (25(OH)D). It is unknown whether these variations also affect overall bone metabolism. In order to elucidate the overall associations of polymorphisms in the CYP2R1, we studied haplotype tagging single nucleotide polymorphisms (SNPs) in the gene and serum levels of 25(OH)D, calcium, phosphate, parathyroid hormone (PTH) and fibroblast growth factor-23 (FGF23), as well as bone mineral density (BMD).

Methods: Baseline data on serum parameters and BMD from MrOS Sweden, a prospective population-based cohort study of elderly men (mean age 75 years, range 69-81), were analyzed. Genotyping was performed for eight SNPs covering the CYP2R1 gene in 2868 men with available samples of DNA. Subjects were followed up concerning incidence of fracture during five years.

Results: There was a significant genetic association with circulating levels of 25(OH)D (4.6-18.5% difference in mean values between SNP alleles), but there were no correlations with levels of calcium, phosphate, PTH or FGF23 for any genetic variant. No differences were found in fracture incidence between the variants. There was an inverse relationship between lower BMD and concomitant higher 25(OH)D for three of the haplotypes (p < 0.005).

Conclusions: Common variants in the CYP2R1 gene encoding Vitamin D 25-hydroxylase correlate with levels of circulating 25(OH)D but do not otherwise associate with measures of calcium and phosphate homeostasis. Presence of the specific haplotypes may be an indicator of risk for low 25(OH)D levels, and may in addition be correlated to bone mineral density.

Place, publisher, year, edition, pages
PUBLIC LIBRARY SCIENCE, 2018
National Category
Endocrinology and Diabetes
Identifiers
urn:nbn:se:uu:diva-373326 (URN)10.1371/journal.pone.0209268 (DOI)000454149400035 ()30576350 (PubMedID)
Funder
Swedish Research Council, 2011-2535
Available from: 2019-01-15 Created: 2019-01-15 Last updated: 2019-01-15Bibliographically approved
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