rs7041
| Orientation | minus |
| Stabilized | minus |
| 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) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 71752617 |
| Gene | GC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7041 |
| dbSNP (classic) | rs7041 |
| ClinGen | rs7041 |
| ebi | rs7041 |
| HLI | rs7041 |
| Exac | rs7041 |
| Gnomad | rs7041 |
| Varsome | rs7041 |
| LitVar | rs7041 |
| Map | rs7041 |
| PheGenI | rs7041 |
| Biobank | rs7041 |
| 1000 genomes | rs7041 |
| hgdp | rs7041 |
| ensembl | rs7041 |
| geneview | rs7041 |
| scholar | rs7041 |
| rs7041 | |
| pharmgkb | rs7041 |
| gwascentral | rs7041 |
| openSNP | rs7041 |
| 23andMe | rs7041 |
| SNPshot | rs7041 |
| SNPdbe | rs7041 |
| MSV3d | rs7041 |
| GWAS Ctlg | rs7041 |
| GMAF | 0.3857 |
| Max Magnitude | 1.5 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19488670
] Vitamin D binding protein genotype and osteoporosis
rs7041(T), the more common allele in many non-Caucasian or Hispanic populations, encodes an aspartic acid (Asp) at position 432 in the vitamin D binding protein (VDBP); in older literature, this is numbered as position 416.
rs7041(G), the rarer allele, encodes a glutamic acid (Glu) at this position.
see discussion at the GC gene for how rs4588 and rs7041 together define three forms of the VDB protein
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 21844098] Reduced Serum Vitamin D-Binding Protein Levels Are Associated With Type 1 Diabetes
[PMID 22144504] Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia
[PMID 22328951] 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 15660291] Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.
[PMID 15726497] Gene-environment interaction effects on the development of immune responses in the 1st year of life.
[PMID 16600026] Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
[PMID 17054776] The genetics of chronic obstructive pulmonary disease.
[PMID 17244366] Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.
[PMID 17903307] 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 18593774] 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 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19255064] Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19330901] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
[PMID 19559392] A candidate gene association study of 77 polymorphisms in migraine.
[PMID 20418485] 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 22576141] No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control study.
[PMID 22583563] 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.
[PMID 23505139] An analysis of the association between the vitamin D pathway and serum 25-hydroxyvitamin D levels in a healthy Chinese population
[PMID 23734748] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes
[PMID 23833127] Pesticide exposure and inherited variants in vitamin D pathway genes in relation to prostate cancer
[PMID 23427793] 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 23923033] 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 24740207]
|
| 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 25652210] 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 25962507] Vitamin D, vitamin D binding protein gene polymorphisms, race and risk of incident stroke: the Atherosclerosis Risk in Communities (ARIC) study
[PMID 25993554] 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.
[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 30886976] Vitamin D in individuals before onset of rheumatoid arthritis - relation to vitamin D binding protein and its associated genetic variants.
[PMID 31359379] Vitamin D-binding protein and vitamin D receptor genotypes and 25-hydroxyvitamin D levels are associated with development of aortic and mitral valve calcification and coronary artery diseases.
[PMID 31640710] DBP rs16846876 and rs12512631 polymorphisms are associated with progression to AIDS naïve HIV-infected patients: a retrospective study.
[PMID 31959263] Vitamin D related genes and cardiometabolic markers in healthy children: a Mendelian randomization study.
[PMID 33105665] Vitamin D Binding Protein (VDBP) and Its Gene Polymorphisms-The Risk of Malignant Tumors and Other Diseases.
[PMID 33219423] Serum vitamin D, vitamin D receptor and binding protein genes polymorphisms in restless legs syndrome.
[PMID 33228578] Influence of vitamin D binding protein polymorphism, demographics and lifestyle factors on vitamin D status of healthy Malaysian pregnant women.
[PMID 33453076] High-Dose Vitamin D During Pregnancy and Pathway Gene Polymorphisms in Prevention of Offspring Persistent Wheeze.
