Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs2228570

Hard Link
rs2228570 is a snp on gene VDR (vitamin D (1,25- dihydroxyvitamin D3) receptor)

GeneVDR Chromosome number 12 Chromosome position 47879112
Alleles T/G/C/A (transliterated to +) Minor Allele A Minor Allele Frequency 0.3285
Notation FokI 2T>G 152T>G Met51Thr Met51Lys Met51Arg Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
Missense variant, start codon.
Gene Function
The VDR gene provides instructions for making a protein called vitamin D receptor (VDR), which allows the body to respond appropriately to vitamin D. This vitamin can be acquired from foods in the diet or made in the body with help from sunlight. Vitamin D is involved in maintaining the proper balance of several minerals in the body, including calcium and phosphate, which are essential for the normal formation of bones and teeth. One of vitamin D's major roles is to control the absorption of calcium and phosphate from the intestines into the bloodstream. Vitamin D is also involved in several process unrelated to bone formation. VDR attaches (binds) to the active form of vitamin D, known as calcitriol. This interaction allows VDR to partner with another protein called retinoid X receptor (RXR). The resulting complex of proteins then binds to particular regions of DNA, known as vitamin D response elements, and regulates the activity of vitamin D-responsive genes. By turning these genes on or off, VDR helps control calcium and phosphate absorption and other processes. A VDR variant FokI is involved with Blood sugar regulation. Certain VDR mutations oppose COMT mutations in the regulation of dopamine levels. A VDR TaqI++ mutation means that a person is less sensitive to mood swings when taking methyl group supplement levels. A VDR Taq1 mutation can result in behaviors opposite to certain COMT mutations. The vitamin D receptor plays an important role in regulating the hair cycle. Loss of VDR is associated with hair loss in experimental animals. Glucocorticoids are known to decrease expression of VDR, which is expressed in most tissues of the body and regulate intestinal transport of calcium, iron and other minerals. The VDR BsmI variant has been associated with low bone mineral density and osteoporosis. Mutations in the VDR gene cause vitamin D-dependent rickets type 2 (VDDR2), also known as hereditary vitamin D-resistant rickets (HVDRR). This disorder of bone development is characterized by low levels of calcium (hypocalcemia) and phosphate (hypophosphatemia) in the blood, which lead to soft, weak bones (rickets) that are prone to fracture. A common feature of this condition is bowed legs. The VDR gene mutations that cause this condition prevent the VDR protein from functioning properly. Some changes in the VDR gene lead to an abnormally short version of the VDR protein; others result in the production of an abnormal receptor that cannot bind to calcitriol, to RXR, or to DNA. Despite plenty of calcitriol in the body, the altered VDR cannot stimulate gene activity important for mineral absorption. The lack of calcium and phosphate absorption in the intestines slows deposition of these minerals into developing bone (bone mineralization), which leads to soft, weak bones and other features of VDDR2. Hypocalcemia also causes muscle weakness and seizures in some affected individuals. Most VDR gene mutations impair hair growth, leading to alopecia; however, mutations that block VDR's ability to interact with calcitriol do not cause alopecia, indicating that calcitriol is not necessary for the receptor's role in hair development.
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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