rs2282679

Less likely to suffer from vitamin D insufficiency

minus

Geno	Mag	Summary
(A;A)	0	normal
(A;C)	1	somewhat lower vitamin D levels
(C;C)	1.5	lower vitamin D levels

Reference

GRCh38 38.1/141

Chromosome

4

Position

71742666

Gene

GC

is a	snp
is	mentioned by
dbSNP	rs2282679
dbSNP (classic)	rs2282679
ClinGen	rs2282679
ebi	rs2282679
HLI	rs2282679
Exac	rs2282679
Gnomad	rs2282679
Varsome	rs2282679
LitVar	rs2282679
Map	rs2282679
PheGenI	rs2282679
Biobank	rs2282679
1000 genomes	rs2282679
hgdp	rs2282679
ensembl	rs2282679
geneview	rs2282679
scholar	rs2282679
google	rs2282679
pharmgkb	rs2282679
gwascentral	rs2282679
openSNP	rs2282679
23andMe	rs2282679
SNPshot	rs2282679
SNPdbe	rs2282679
MSV3d	rs2282679
GWAS Ctlg	rs2282679

GMAF

0.2181

Max Magnitude

1.5

?

(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 20418485 ]
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 20541252 ]
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 19255064 ] 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 22613962 ] Genetic Influences on Vitamin D Status and Forearm Fracture Risk in African American Children.

GWAS snp
PMID	[PMID 22673963 ]
Trait
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 22701574 ] 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 23734184 ] 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 23456391 ] 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 23468552 ] 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 25799011 ] 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 26448018 ] 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 27570856 ] Genetic influence on circulating vitamin D among Saudi Arabians.

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

[PMID 28161065 ] 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 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 29409465 ] 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 30150596 ] 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 31640710 ] DBP rs16846876 and rs12512631 polymorphisms are associated with progression to AIDS naïve HIV-infected patients: a retrospective study.

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

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