Have questions? Visit https://www.reddit.com/r/SNPedia

rs2282679

From SNPedia

Less likely to suffer from vitamin D insufficiency
Orientationminus
Stabilizedminus
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
Chromosome4
Position71742666
GeneGC
is asnp
is mentioned by
dbSNPrs2282679
ebirs2282679
HLIrs2282679
Exacrs2282679
Varsomers2282679
Maprs2282679
PheGenIrs2282679
hapmaprs2282679
1000 genomesrs2282679
hgdprs2282679
ensemblrs2282679
gopubmedrs2282679
geneviewrs2282679
scholarrs2282679
googlers2282679
pharmgkbrs2282679
gwascentralrs2282679
openSNPrs2282679
23andMers2282679
23andMe allrs2282679
SNP Nexus

SNPshotrs2282679
SNPdbers2282679
MSV3drs2282679
GWAS Ctlgrs2282679
GMAF0.2181
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.

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]
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 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 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.