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From SNPedia

Geno Mag Summary
(T;T) 1.5 ex-smokers at 2x higher risk for COPD; supplement with Vitamin D?
Make rs7041(G;G)
Make rs7041(G;T)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs7041
23andMe allrs7041
SNP Nexus

GWAS Ctlgrs7041
Max Magnitude1.5
? (G;G) (G;T) (T;T) 28
[PMID 19488670OA-icon.png] Vitamin D binding protein genotype and osteoporosis

A study of 414 (ex)-smokers older than 50 years concluded that vitamin D levels were reduced by 25% in [[rs7041](T;T) homozygotes (p<0.0001), and even after correction for age, gender and smoking history, they were also at increased risk for chronic obstructive pulmonary disease (COPD; odds ratio 2.11, CI: 1.20-3.71, p=0.009). They conclude that since vitamin D deficiency occurs frequently in COPD and correlates with its severity, vitamin D supplementation may be warranted in patients with severe COPD, and especially in those carrying rs7041(T) alleles.[PMID 19996341]

[PMID 20363324] A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations

[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 22144504OA-icon.png] Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia

[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

Risk rs7041(G;G)
Alt rs7041(G;G)
Reference rs7041(T;T)
Significance Non-pathogenic
Variation info
Gene GC
Reversed 1
HGVS NC_000004.11:g.72618334A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017357.2,

[PMID 15660291OA-icon.png] Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.

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

[PMID 16600026OA-icon.png] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

[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 17903307OA-icon.png] Framingham Heart Study genome-wide association: results for pulmonary function measures.

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

[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 20418485OA-icon.png] Genome-wide association study of circulating vitamin D levels.

[PMID 21228423] Vitamin D-binding protein contributes to COPD by activation of alveolar macrophages.

[PMID 21693626] Vitamin D-related genetic variants, interactions with vitamin D exposure, and breast cancer risk among Caucasian women in Ontario.

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

[PMID 22576141OA-icon.png] No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control study.

[PMID 22583563OA-icon.png] Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.

[PMID 22610885] Vitamin D binding protein gene polymorphisms and baseline vitamin D levels as predictors of antiviral response in chronic hepatitis C.

GET Evidence
aa_change Asp432Glu
aa_change_short D432E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.42638

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

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

[PMID 23833127OA-icon.png] Pesticide exposure and inherited variants in vitamin D pathway genes in relation to prostate cancer

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

[PMID 23730842] Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients.

[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

GWAS snp
PMID [PMID 24740207OA-icon.png]
Trait Serum vitamin D-binding protein levels
Title Genome-wide association study of circulating vitamin D-binding protein.
Risk Allele T
P-val 1E-246
Odds Ratio ####### [1985.17-2233.51] nmol/L decrease

[PMID 25652210OA-icon.png] Vitamin D binding protein genotype is associated with plasma 25OHD concentration in West African children

[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 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 25716552] Genetic and environmental factors are associated with serum 25-hydroxyvitamin D concentrations in older African Americans

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

[PMID 27669215] Vitamin D-Related Gene Polymorphisms, Plasma 25-Hydroxy-Vitamin D, Cigarette Smoke and Non-Small Cell Lung Cancer (NSCLC) Risk.

[PMID 27683185] Association Between Single Gene Polymorphisms and Bone Biomarkers and Response to Calcium and Vitamin D Supplementation in Young Adults Undergoing Military Training.