rs4588
| Affects vitamin D levels |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4588(A;A) |
| Make rs4588(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 71752606 |
| Gene | GC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4588 |
| dbSNP (classic) | rs4588 |
| ClinGen | rs4588 |
| ebi | rs4588 |
| HLI | rs4588 |
| Exac | rs4588 |
| Gnomad | rs4588 |
| Varsome | rs4588 |
| LitVar | rs4588 |
| Map | rs4588 |
| PheGenI | rs4588 |
| Biobank | rs4588 |
| 1000 genomes | rs4588 |
| hgdp | rs4588 |
| ensembl | rs4588 |
| geneview | rs4588 |
| scholar | rs4588 |
| rs4588 | |
| pharmgkb | rs4588 |
| gwascentral | rs4588 |
| openSNP | rs4588 |
| 23andMe | rs4588 |
| SNPshot | rs4588 |
| SNPdbe | rs4588 |
| MSV3d | rs4588 |
| GWAS Ctlg | rs4588 |
| GMAF | 0.2163 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
see rs2282679, a near-perfect proxy for rs4588
rs4588(C), the more common allele in most populations, encodes a threonine (Thr) at position 436 in the vitamin D binding protein (VDBP); in older literature, this is numbered as position 420.
rs4588(A), the rarer allele, encodes a lysine (Lys) at this position.
see discussion at the GC gene for how rs4588 and rs7041 together define three forms of the VDB protein
[PMID 19488670
] Vitamin D binding protein genotype and osteoporosis
[PMID 20363324] A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations
[PMID 19996341] Vitamin D deficiency is highly prevalent in COPD and correlates with variants in the vitamin D-binding gene
[PMID 20812960] Vitamin D-binding protein polymorphisms are not associated with development of (multiple) basal cell carcinomas
[PMID 21844098] Reduced Serum Vitamin D-Binding Protein Levels Are Associated With Type 1 Diabetes
[PMID 22328951] GC Glu416Asp and Thr420Lys polymorphisms contribute to gastrointestinal cancer susceptibility in a Chinese population
[PMID 22213340] 25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease
[PMID 22610885] Vitamin D binding protein gene polymorphisms and baseline vitamin D levels as predictors of antiviral response in chronic hepatitis C.
| ClinVar | |
|---|---|
| Risk | rs4588(A;A) rs4588(T;T) |
| Alt | rs4588(A;A) rs4588(T;T) |
| Reference | Rs4588(C;C) |
| Significance | Non-pathogenic |
| Disease | GC1/GC2 POLYMORPHISM |
| Variation | info |
| Gene | GC |
| CLNDBN | GC1/GC2 POLYMORPHISM |
| Reversed | 1 |
| HGVS | NC_000004.11:g.72618323G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017356.3, |
[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.
[PMID 17054776] The genetics of chronic obstructive pulmonary disease.
[PMID 17244366] Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.
[PMID 18559548] The Gc2 allele of the vitamin D binding protein is associated with a decreased postmenopausal breast cancer risk, independent of the vitamin D status.
[PMID 18593774] Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.
[PMID 19116321] Genetic polymorphisms of the vitamin D binding protein and plasma concentrations of 25-hydroxyvitamin D in premenopausal women.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 20031567] An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.
[PMID 21972121] Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans.
[PMID 22583563] Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.
[PMID 23505139] An analysis of the association between the vitamin D pathway and serum 25-hydroxyvitamin D levels in a healthy Chinese population
[PMID 23169318] Genetic sequence variants in vitamin D metabolism pathway genes, serum vitamin D level and outcome in head and neck cancer patients
[PMID 23734748] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes
[PMID 23556437] Changes in circulating 25-hydroxyvitamin D according to vitamin D binding protein genotypes after vitamin D₃ or D₂supplementation
[PMID 23456391] Serum vitamin D metabolites in colorectal cancer patients receiving cholecalciferol supplementation: correlation with polymorphisms in the vitamin D genes
[PMID 24568525] Lack of Associations between Vitamin D Metabolism-Related Gene Variants and Risk of Colorectal Cancer
[PMID 23070913] Association of vitamin D binding protein polymorphism with long-term kidney allograft survival in Hispanic kidney transplant recipients.
[PMID 23191998] Genetic variations in the vitamin D binding protein and season-specific levels of vitamin D among older adults.
[PMID 23427793] Common variants of the vitamin D binding protein gene and adverse health outcomes.
[PMID 23923033] The association between plasma 25-hydroxyvitamin D and subgroups in age-related macular degeneration: a cross-sectional study
[PMID 25174667] Environmental and Genetic Determinants of Vitamin D Insufficiency in 12-month-old Infants
[PMID 25652210] Vitamin D binding protein genotype is associated with plasma 25OHD concentration in West African children
[PMID 25527766] Common variants in CYP2R1 and GC genes are both determinants of serum 25-hydroxyvitamin D concentrations after UVB irradiation and after consumption of vitamin D₃-fortified bread and milk during winter in Denmark
[PMID 25211176] Determinants of vitamin D status in Caucasian adults: influence of sun exposure, dietary intake, sociodemographic, lifestyle, anthropometric, and genetic factors
[PMID 25920689] The associations of 25-hydroxyvitamin D levels, vitamin D binding protein gene polymorphisms, and race with risk of incident fracture-related hospitalization: Twenty-year follow-up in a bi-ethnic cohort (the ARIC Study)
[PMID 25962507] Vitamin D, vitamin D binding protein gene polymorphisms, race and risk of incident stroke: the Atherosclerosis Risk in Communities (ARIC) study
[PMID 25993554] The DBP Phenotype Gc-1f/Gc-1f Is Associated with Reduced Risk of Cancer. The Tromsø Study
[PMID 26383826] Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients
[PMID 26404398] Hypovitaminosis D in a Young Lebanese Population: Effect of GC Gene Polymorphisms on Vitamin D and Vitamin D Binding Protein Levels
[PMID 27570856] Genetic influence on circulating vitamin D among Saudi Arabians.
[PMID 28284354] Vitamin D-binding protein gene polymorphisms are not associated with MS risk in an Italian cohort.
[PMID 28278285] Genetic variant in vitamin D-binding protein is associated with metabolic syndrome and lower 25-hydroxyvitamin D levels in polycystic ovary syndrome: A cross-sectional study.
[PMID 29545823] Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women.
[PMID 30886976] Vitamin D in individuals before onset of rheumatoid arthritis - relation to vitamin D binding protein and its associated genetic variants.
[PMID 31959263] Vitamin D related genes and cardiometabolic markers in healthy children: a Mendelian randomization study.
[PMID 32537819] Association between variants in vitamin D-binding protein gene and vitamin D deficiency among pregnant women in china.
[PMID 33105665] Vitamin D Binding Protein (VDBP) and Its Gene Polymorphisms-The Risk of Malignant Tumors and Other Diseases.
[PMID 33219423] Serum vitamin D, vitamin D receptor and binding protein genes polymorphisms in restless legs syndrome.
[PMID 33228578] Influence of vitamin D binding protein polymorphism, demographics and lifestyle factors on vitamin D status of healthy Malaysian pregnant women.
[PMID 33453076] High-Dose Vitamin D During Pregnancy and Pathway Gene Polymorphisms in Prevention of Offspring Persistent Wheeze.
