{{Rsnum
|rsid=7041
|Gene=GC
|Chromosome=4
|position=71752617
|Orientation=minus
|GMAF=0.3857
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=GC
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 32.1 | 49.1 | 18.8
| HCB | 7.3 | 42.3 | 50.4
| JPT | 8.8 | 31.9 | 59.3
| YRI | 0.7 | 15.6 | 83.7
| ASW | 3.5 | 28.1 | 68.4
| CHB | 7.3 | 42.3 | 50.4
| CHD | 11.0 | 45.9 | 43.1
| GIH | 22.8 | 51.5 | 25.7
| LWK | 0.9 | 12.7 | 86.4
| MEX | 24.1 | 50.0 | 25.9
| MKK | 3.2 | 38.5 | 58.3
| TSI | 25.5 | 56.9 | 17.6
| HapMapRevision=28
}}{{PMID Auto
|PMID=19488670
|Title=Vitamin D binding protein genotype and osteoporosis
|OA=1
}}

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 Auto
|PMID=20363324
|Title=A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations
}}
{{PMID Auto
|PMID=20812960
|Title=Vitamin D-binding protein polymorphisms are not associated with development of (multiple) basal cell carcinomas
}}

{{omim
|id=139200
|rsnum=7041
|variant=0002
}}

{{PMID Auto
|PMID=21844098
|Title=Reduced Serum Vitamin D-Binding Protein Levels Are Associated With Type 1 Diabetes
|OA=1
}}

{{PMID Auto
|PMID=22144504
|Title=Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia
|OA=1
}}

{{PMID Auto
|PMID=22328951
|Title=GC Glu416Asp and Thr420Lys polymorphisms contribute to gastrointestinal cancer susceptibility in a Chinese population
|OA=1
}}

{{PMID Auto
|PMID=22213340
|Title=25-hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease
}}

{{ClinVar
|rsid=7041
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=72618334
|CHROM=4
|GMAF=0.386
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x05036800000017051f110100
|GENEINFO=GC:2638
|GENE_NAME=GC
|GENE_ID=2638
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000004.11:g.72618334A>C
|CLNORIGIN=1
|CLNSIG=2
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.6143; 0.3857
|CLNACC=RCV000017357.1
|CLNDBN=GC1/GC2 POLYMORPHISM
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=139200.0002
|COMMON=1
|Disease=GC1/GC2 POLYMORPHISM
}}

{{PMID Auto
|PMID=15660291
|Title=Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study.
|OA=1
}}

{{PMID Auto
|PMID=15726497
|Title=Gene-environment interaction effects on the development of immune responses in the 1st year of life.
|OA=1
}}

{{PMID Auto
|PMID=16600026
|Title=Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.
|OA=1
}}

{{PMID Auto
|PMID=17054776
|Title=The genetics of chronic obstructive pulmonary disease.
|OA=1
}}

{{PMID Auto
|PMID=17244366
|Title=Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study.
|OA=1
}}

{{PMID Auto
|PMID=17903307
|Title=Framingham Heart Study genome-wide association: results for pulmonary function measures.
|OA=1
}}

{{PMID Auto
|PMID=18559548
|Title=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 Auto
|PMID=18593774
|Title=Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.
|OA=1
}}

{{PMID Auto
|PMID=19116321
|Title=Genetic polymorphisms of the vitamin D binding protein and plasma concentrations of 25-hydroxyvitamin D in premenopausal women.
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
|PMID=19255064
|Title=Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19330901
|Title=Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19559392
|Title=A candidate gene association study of 77 polymorphisms in migraine.
|OA=1
}}

{{PMID Auto
|PMID=20418485
|Title=Genome-wide association study of circulating vitamin D levels.
|OA=1
}}

{{PMID Auto
|PMID=21228423
|Title=Vitamin D-binding protein contributes to COPD by activation of alveolar macrophages.
}}

{{PMID Auto
|PMID=21693626
|Title=Vitamin D-related genetic variants, interactions with vitamin D exposure, and breast cancer risk among Caucasian women in Ontario.
}}

{{PMID Auto
|PMID=21972121
|Title=Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans.
}}

{{PMID Auto
|PMID=22576141
|Title=No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=22583563
|Title=Genetic and environmental predictors of serum 25-hydroxyvitamin D concentrations among middle-aged and elderly Chinese in Singapore.
|OA=1
}}

{{PMID Auto
|PMID=22610885
|Title=Vitamin D binding protein gene polymorphisms and baseline vitamin D levels as predictors of antiviral response in chronic hepatitis C.
}}

{{GET Evidence
|gene=GC
|aa_change=Asp432Glu
|aa_change_short=D432E
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7041
|overall_frequency_n=4587
|overall_frequency_d=10758
|overall_frequency=0.42638
|n_genomes=32
|n_genomes_annotated=0
|n_haplomes=43
|n_articles=0
|n_articles_annotated=0
|nblosum100=-2
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23505139
|Title=An analysis of the association between the vitamin D pathway and serum 25-hydroxyvitamin D levels in a healthy Chinese population
}}

{{PMID Auto
|PMID=23734748
|Title=Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes
|OA=1
}}

{{PMID Auto
|PMID=23833127
|Title=Pesticide exposure and inherited variants in vitamin D pathway genes in relation to prostate cancer
}}

{{PMID Auto
|PMID=23427793
|Title=Common variants of the vitamin D binding protein gene and adverse health outcomes.
|OA=1
}}

{{PMID Auto
|PMID=23730842
|Title=Association of vitamin D serum levels and its common genetic determinants, with severity of liver fibrosis in genotype 1 chronic hepatitis C patients.
}}

{{PMID Auto
|PMID=23923033
|Title=The association between plasma 25-hydroxyvitamin D and subgroups in age-related macular degeneration: a cross-sectional study
}}

{{PMID Auto
|PMID=25174667
|Title=Environmental and Genetic Determinants of Vitamin D Insufficiency in 12-month-old Infants
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}