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From SNPedia

Affects vitamin D levels
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs4588(A;A)
Make rs4588(A;C)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs4588
1000 genomesrs4588
23andMe allrs4588
GWAS Ctlgrs4588
Max Magnitude0
? (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 19488670OA-icon.png] 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 21844098OA-icon.png] Reduced Serum Vitamin D-Binding Protein Levels Are Associated With Type 1 Diabetes

[PMID 22328951OA-icon.png] 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.

Risk rs4588(A;A) rs4588(T;T)
Alt rs4588(A;A) rs4588(T;T)
Reference Rs4588(C;C)
Significance Non-pathogenic
Variation info
Gene GC
Reversed 1
HGVS NC_000004.11:g.72618323G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017356.3,

[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[PMID 17054776OA-icon.png] The genetics of chronic obstructive pulmonary disease.

[PMID 17244366OA-icon.png] 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 18593774OA-icon.png] 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 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.

[PMID 20031567OA-icon.png] 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 22583563OA-icon.png] 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 23734748OA-icon.png] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes

[PMID 23556437OA-icon.png] Changes in circulating 25-hydroxyvitamin D according to vitamin D binding protein genotypes after vitamin D₃ or D₂supplementation

[PMID 23456391OA-icon.png] 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 23427793OA-icon.png] Common variants of the vitamin D binding protein gene and adverse health outcomes.

[PMID 23923033OA-icon.png] 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 25652210OA-icon.png] 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 25920689OA-icon.png] 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 25962507OA-icon.png] Vitamin D, vitamin D binding protein gene polymorphisms, race and risk of incident stroke: the Atherosclerosis Risk in Communities (ARIC) study

[PMID 25993554OA-icon.png] 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 27570856OA-icon.png] 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 28278285OA-icon.png] 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 29545823OA-icon.png] Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women.

[PMID 30886976OA-icon.png] 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 32537819OA-icon.png] Association between variants in vitamin D-binding protein gene and vitamin D deficiency among pregnant women in china.

[PMID 33105665OA-icon.png] 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 33228578OA-icon.png] 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.