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Vitamin D status and pathway genes in five European autoimmune Addison's disease cohorts

Lookup NU author(s): Professor Simon PearceORCiD, Dr Anna Mitchell

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Abstract

Objective: While vitamin D regulates immune cells, little is known about it in autoimmune Addison's disease (AAD). We investigated the vitamin D status in AAD patients from five European populations to assess its deficiency. In addition, we studied two case-control cohorts for vitamin D metabolism and pathway genes. Design: Cross-sectional study. Methods: A total of 1028 patients with AAD from Germany (n = 239), Italy (n = 328), Norway (n = 378), UK (n = 44) and Poland (n = 39) and 679 controls from Germany (n = 301) and Norway (n = 378) were studied for 25(OH)D3 (primary objective). Secondary objectives (1,25(OH)2D3 and pathway genes) were examined in case-controls from Germany and Norway correlating 25(OH)D3 and single nucleotide polymorphisms within genes encoding the vitamin D receptor (VDR), 1-α-hydroxylase (CYP27B1), 25-hydroxylase (CYP2R1), 24-hydroxylase (CYP24A1) and vitamin D binding protein (GC/DBP). Results: Vitamin D deficiency (25(OH)D3 10-20 ng/mL) was highly prevalent in AAD patients (34-57%), 5-22% were severely deficient (<10 ng/mL), 28-38% insufficient (20-30 ng/mL) and only 7-14% sufficient (>30 ng/mL). Lower 25(OH)D3 and 1,25(OH)2D3 levels were observed both in Norwegian and German AAD (P = 0.03/0.003 and P = 1 × 10-5/< 1 × 10-7, respectively) the former was associated with CYP2R1 (rs1553006) genotype G. Whereas controls achieved sufficient median 25(OH)D3 in summers (21.4 to 21.9 ng/mL), AAD patients remained largely deficient (18.0 to 21.2 ng/mL) and synthesize less 1,25(OH)2D3. Conclusion: Vitamin D deficiency and insufficiency are highly prevalent in AAD patients. The vitamin D status of AAD may be influenced by genetic factors and suggests individual vitamin D requirements throughout the year.

Publication metadata

Author(s): Penna-Martinez M, Meyer G, Wolff AB, Skinningsrud B, Betterle C, Falorni A, Ollier W, Undlien D, Husebye E, Pearce S, Mitchell AL, Badenhoop K

Publication type: Article

Publication status: Published

Journal: European Journal of Endocrinology

Year: 2021

Volume: 184

Issue: 3

Pages: 377-385

Online publication date: 01/03/2021

Acceptance date: 02/04/2018

ISSN (print): 0804-4643

ISSN (electronic): 1479-683X

Publisher: European Society of Endocrinology

URL: https://doi.org/10.1530/EJE-20-0956

DOI: 10.1530/EJE-20-0956

PubMed id: 33444227

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