دورية أكاديمية
Vitamin D status and pathway genes in five European autoimmune Addison's disease cohorts
| العنوان: | Vitamin D status and pathway genes in five European autoimmune Addison's disease cohorts |
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| المؤلفون: | Penna-Martinez M., Meyer G., Wolff A. B., Skinningsrud B., Betterle C., Falorni A., Ollier W., Undlien D., Husebye E., Pearce S., Mitchell A. L., Badenhoop K. |
| المساهمون: | Penna-Martinez, M., Meyer, G., Wolff, A. B., Skinningsrud, B., Betterle, C., Falorni, A., Ollier, W., Undlien, D., Husebye, E., Pearce, S., Mitchell, A. L., Badenhoop, K. |
| سنة النشر: | 2021 |
| المجموعة: | IRIS Università degli Studi di Perugia |
| مصطلحات موضوعية: | Addison Disease, Adult, Calcifediol, Calcitriol, Case-Control Studies, Cohort Studies, Cross-Sectional Studies, Europe, Female, Humans, Male, Middle Aged, Receptors, Vitamin D Deficiency, Vitamin D-Binding Protein, Vitamin D3 24-Hydroxylase, Genotype, Polymorphism, Single Nucleotide |
| الوصف: | Objective: While vitamin D regulates immune cells, little is known about i t in autoimmune Addison's disease (AAD). We investigated the vitamin D status in AAD patients from five Euro pean populations to assess its deficiency. In addition, we studied two case-control cohorts for vitamin D metabolism an d 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% suffici ent (>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 vit amin D requirements throughout the year. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/33444227; info:eu-repo/semantics/altIdentifier/wos/WOS:000619182300003; volume:184; issue:3; firstpage:377; lastpage:385; numberofpages:9; journal:EUROPEAN JOURNAL OF ENDOCRINOLOGY; http://hdl.handle.net/11391/1490737Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102211891 |
| DOI: | 10.1530/EJE-20-0956 |
| الإتاحة: | https://doi.org/10.1530/EJE-20-0956Test http://hdl.handle.net/11391/1490737Test |
| رقم الانضمام: | edsbas.F53DB213 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1530/EJE-20-0956 |
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