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From SNPedia

Less likely to suffer from vitamin D insufficiency
Geno Mag Summary
(A;A) 0 normal
(A;C) 1 somewhat lower vitamin D levels
(C;C) 1.5 lower vitamin D levels
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs2282679
1000 genomesrs2282679
GWAS Ctlgrs2282679
Max Magnitude1.5
? (A;A) (A;C) (C;C) 28

rs2282679, located in the group-specific component (vitamin D binding protein) GC gene on chromosome 4p12, has been linked by several studies to vitamin D serum concentrations.

In both studies, the allele associated with lower vitamin D, and thus the potential for vitamin D insufficiency, is rs2282679(C). Carriers of two such alleles have lower vitamin D than carriers of one allele, who in turn on average have lower vitamin D levels than rs2282679(A;A) individuals.10.1016/S0140-6736(10)60588-0

A near-perfect proxy (i.e. substitute) for rs2282679 is reported to be rs4588, which was the variant originally used along with rs7041 to define three alternative vitamin D binding protein forms. rs2282679(A) is typically co-inherited with rs4588(C); rs2282679(C) is typically co-inherited with rs4588(A).

GWAS snp
PMID [PMID 20418485OA-icon.png]
Trait Vitamin D levels
Title Genome-wide association study of circulating vitamin D levels
Risk Allele C
P-val 2E-49
Odds Ratio 0.38 [0.32-0.44] unit decrease
GWAS snp
PMID [PMID 20541252OA-icon.png]
Trait Vitamin D insufficiency
Title Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
Risk Allele
P-val 2E-109
Odds Ratio None None

[PMID 19255064OA-icon.png] Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.

[PMID 21972121] Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans.

[PMID 22613962OA-icon.png] Genetic Influences on Vitamin D Status and Forearm Fracture Risk in African American Children.

GWAS snp
PMID [PMID 22673963OA-icon.png]
Title Genome-wide association analysis of circulating vitamin D levels in children with asthma.
Risk Allele
P-val 2E-14
Odds Ratio None None

[PMID 22704802] Vitamin D-binding protein (group-specific component) has decreased expression in rheumatoid arthritis

[PMID 22701574OA-icon.png] Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis

[PMID 23505139] An analysis of the association between the vitamin D pathway and serum 25-hydroxyvitamin D levels in a healthy Chinese population

[PMID 23734184OA-icon.png] Genetic Analyses Reveal a Role for Vitamin D Insufficiency in HCV-Associated Hepatocellular Carcinoma Development

[PMID 23924835] Genetic variant in vitamin D binding protein is associated with serum 25-hydroxyvitamin D and vitamin D insufficiency in southern Chinese

[PMID 24007655] Genetic variants in Vitamin D pathway in Egyptian asthmatic children: a pilot study

[PMID 23456391OA-icon.png] Serum vitamin D metabolites in colorectal cancer patients receiving cholecalciferol supplementation: correlation with polymorphisms in the vitamin D genes

[PMID 23191998] Genetic variations in the vitamin D binding protein and season-specific levels of vitamin D among older adults.

[PMID 23319826] Vitamin D and mortality: a Mendelian randomization study.

[PMID 23468552OA-icon.png] Genetic variants influencing biomarkers of nutrition are not associated with cognitive capability in middle-aged and older adults.

[PMID 23793229] Association of common gene variants in vitamin D modulating genes and colon cancer recurrence.

[PMID 25032819] Vitamin D time profile based on the contribution of non-genetic and genetic factors in HIV-infected individuals of European ancestry

[PMID 25174667] Environmental and Genetic Determinants of Vitamin D Insufficiency in 12-month-old Infants

[PMID 25799011OA-icon.png] Vitamin D Metabolic Pathway Genes and Pancreatic Cancer Risk

[PMID 25906790] Determinants of serum 25(OH)D concentration in young and middle-aged adults. The Cardiovascular Risk in Young Finns Study

[PMID 26209090] Vitamin D and prostate cancer prognosis: a Mendelian randomization study

[PMID 26448018OA-icon.png] Variants in Vitamin D Binding Protein Gene Are Associated With Gestational Diabetes Mellitus

[PMID 27282160] GC and VDR SNPs and Vitamin D Levels in Parkinson's Disease: The Relevance to Clinical Features.

[PMID 27570856OA-icon.png] Genetic influence on circulating vitamin D among Saudi Arabians.

[PMID 27594614OA-icon.png] Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study.

[PMID 28161065OA-icon.png] Placental genetic variations in vitamin D metabolism and birthweight.

[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 29409465OA-icon.png] Association of rs2282679 A>C polymorphism in vitamin D binding protein gene with colorectal cancer risk and survival: effect modification by dietary vitamin D intake.

[PMID 30150596OA-icon.png] Association between Vitamin D Deficiency and Single Nucleotide Polymorphisms in the Vitamin D Receptor and GC Genes and Analysis of Their Distribution in Mexican Postmenopausal Women.

[PMID 31640710OA-icon.png] DBP rs16846876 and rs12512631 polymorphisms are associated with progression to AIDS naïve HIV-infected patients: a retrospective study.

[PMID 32188599OA-icon.png] Genetic predictors of circulating 25-hydroxyvitamin D and prognosis after colorectal cancer.

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