Scandinavian Journal of Rheumatology Volume 49, 2020 - Issue 6, https://doi.org/10.1080/03009742.2020.1762922
C Orhan,B Seyhan,O Baykara,M Yildiz,O Kasapcopur &N Buyru
Pages 484-488 | Accepted 27 Apr 2020, Published online: 17 Sep 2020
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Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent short episodes (1–3 days) of inflammation and fever. FMF is associated with MEFV gene mutations but some patients with FMF symptoms do not have a mutation in the coding region of the MEFV gene. Vitamin D binding protein (VDBP) has important functions, including transporting vitamin D and its metabolites to target cells. Circulating levels of vitamin D are decreased in several inflammatory conditions, including FMF. Thus, we hypothesize that VDBP may play a crucial role in FMF pathogenesis, in addition to the MEFV gene.
Method: VDBP genotyping was performed by polymerase chain reaction (PCR)–restriction fragment length polymorphism in 107 FMF patients and 25 healthy individuals without FMF or family history. For this, after amplification of genomic DNA, PCR products were digested with restriction enzymes HaeIII and StyI and evaluated electrophoretically.
Results: We observed a statistically significant difference in the frequency of the 1F–2 genotype. The frequency of allele 2 was significantly higher and allele 1S was significantly lower compared to the [MEFV(−)] group and healthy controls (p = 0.034, 0.001, and 0.012, respectively). We observed a significant association between the presence of allele 2 and amyloidosis (p = 0.026) and arthritis (p = 0.044) in the [MEFV(−)] group.
Conclusion: Our results suggest that FMF symptoms in the absence of MEFV gene mutations may be due to the presence of VDBP allele 2. Therefore, VDBP genotype may explain the symptoms in FMF MEFV(−) patients.
I could not quickly understand the association strength in the PDF
- Familial Mediterranean Fever is 3X more likely if poor Vitamin D Receptors (males) – Sept 2017
- FMF: another autoimmune disease associated with low vitamin D – Nov 2013
Vitamin D Binding Protein category listing has
Vitamin D Binding Protein (GC) gene can decrease the bio-available Vitamin D that can get to cells,
- GC is not the only such gene - there are 3 others, all invisible to standard Vitamin D tests
- The bio-available calculation does not notice the effect of GC, CYP27B1, CYP24A1, and VDR
- The actual D getting to the cells is a function of measured D and all 4 genes
- There is >2X increase in 8+ health problems if have poor VDBP (GC)
- It appears that VDBP only blocks oral vitamin D,
- but NOT Vitamin D from sun, UV, topical or inhaled (tissue activated)
- A clue: - Vitamin D from UV is 2X better for MS than oral UV
Vitamin D Binding Protein has a list of health problems
|6 X||Food Allergy|
|4 X, 5X||Kidney Cancer|
|4 X||Poor Response to Oral Vitamin D|
|3 X||Ear infection|
|2 X||Colorectal Cancer|
|2 X||Prostate Cancer -in those with dark skins|
Autoimmune category starts with
164 items in Autoimmune category
- Vitamin D and MS Asthma RA Diabetes Gut Allergy Hay Fever Muscular Dystrophy Lupus Psoriasis
- Autoimmune disease clusters run in families having low D
- How Vitamin D reduces inflammation, improves immunity and fights autoimmunity – review Dec 2018
- 120 doctors and 20,000 MS patients using high dose Vitamin D Dec 2018
- Vitamin D has treated Multiple Sclerosis and autoimmune diseases for 16 years – Coimbra April 2018
- Vitamin D Receptor is associated in over 58 autoimmune studies
- Many autoimmune diseases associated with low vitamin D or poor Vit D genes – July 2019
Familial Mediterranean Fever is associated with poor Vitamin D Binding Protein – Nov 2020
- Familial Mediterranean fever Medline Plus 2020
- "Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. "
- "Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations."
- I did not notice any mention of Vitamin D Genes
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