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rs7041

From SNPedia

Orientationminus
Stabilizedminus
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
Chromosome4
Position71752617
GeneGC
is asnp
is mentioned by
dbSNPrs7041
ebirs7041
HLIrs7041
Exacrs7041
Varsomers7041
Maprs7041
PheGenIrs7041
hapmaprs7041
1000 genomesrs7041
hgdprs7041
ensemblrs7041
gopubmedrs7041
geneviewrs7041
scholarrs7041
googlers7041
pharmgkbrs7041
gwascentralrs7041
openSNPrs7041
23andMers7041
23andMe allrs7041
SNP Nexus

SNPshotrs7041
SNPdbers7041
MSV3drs7041
GWAS Ctlgrs7041
GMAF0.3857
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

OMIM139200
Desc
Variant0002
Relatedalso
[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


ClinVar
Risk rs7041(G;G)
Alt rs7041(G;G)
Reference rs7041(T;T)
Significance Non-pathogenic
Disease GC1/GC2 POLYMORPHISM
Variation info
Gene GC
CLNDBN GC1/GC2 POLYMORPHISM
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
GC-D432E
aa_change Asp432Glu
aa_change_short D432E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.42638
summary



[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.