Condition: Vitamin D measurement


rs78862524 in ADAMTS3 gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs10745742 in AMDHD1 gene and Vitamin D measurement PMID 29343764 2018 Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

rs55665837 in COPB1 gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs10741657 in CYP2R1 gene and Vitamin D measurement PMID 29343764 2018 Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

PMID 29545823 2018 Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women.

PMID 20418485 2010 Genome-wide association study of circulating vitamin D levels.

PMID 20418485 2010 Suggestive signals for association with 25(OH)D were also observed for SNPs in or near three other genes involved in vitamin D synthesis or activation: rs3829251 on chromosome 11q13.4 in NADSYN1 [encoding nicotinamide adenine dinucleotide (NAD) synthetase; P=8.8x10(-7)], which was in high LD with rs1790349, located in DHCR7, the gene encoding 7-dehydrocholesterol reductase that synthesizes cholesterol from 7-dehydrocholesterol; rs6599638 in the region harboring the open-reading frame 88 (C10orf88) on chromosome 10q26.13 in the vicinity of ACADSB (acyl-Coenzyme A dehydrogenase), involved in cholesterol and vitamin D synthesis (P=3.3x10(-7)); and rs2060793 on chromosome 11p15.2 in CYP2R1 (cytochrome P450, family 2, subfamily R, polypeptide 1, encoding a key C-25 hydroxylase that converts vitamin D3 to an active vitamin D receptor ligand; P=1.4x10(-5)).

rs185378533 in FLJ42102 gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs1155563 in GC gene and Vitamin D measurement PMID 25208829 2014 Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.

PMID 20418485 2010 Genome-wide association study of circulating vitamin D levels.

PMID 22673963 2012 Genome-wide association analysis of circulating vitamin D levels in children with asthma.

PMID 29343764 2018 Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

PMID 29325163 2018 Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.

PMID 29545823 2018 These were located in or near <i>GC</i>, the vitamin D binding protein, or <i>CYP2R1</i>, a cytochrome P450 enzyme that hydroxylates vitamin D to form 25(OH)D. The top hit was rs4588, a missense <i>GC</i> polymorphism associated with a 3.5 ng/mL decrease in 25(OH)D per copy of the minor allele (95% confidence interval [CI]: -4.1, -3.0; <i>p</i> = 4.5 × 10<sup>-38</sup>).

PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs2277458 in GEMIN2;LOC105370459 gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs3819817 in HAL gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs2207173 in LOC105372568 gene and Vitamin D measurement PMID 26704534 2016 A novel locus at chromosome 20p11.21 represented by rs2207173 with minor allele frequency (MAF) 0.29, [β=-0.13, p=4.47×10(-9)] between FOXA2 and SSTR4 was identified to be associated with 25(OH)D levels.

rs10485165 in LOC105377885 gene and Vitamin D measurement PMID 17903293 2007 Genome-wide association with select biomarker traits in the Framingham Heart Study.

rs156299 in LOC107986777 gene and Vitamin D measurement PMID 25208829 2014 In addition, a novel association was observed at age 6 with SNPs on chromosome 7p15 near NPY (age 6: rs156299, P=1.3 × 10(-6)) that could be of functional interest in highlighting alternative pathways for vitamin D metabolism in this age group and merits further analysis in other cohort studies.

rs2302190 in MTMR4 gene and Vitamin D measurement PMID 25208829 2014 Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.

rs11234027 in NADSYN1 gene and Vitamin D measurement PMID 20418485 2010 Genome-wide association study of circulating vitamin D levels.

PMID 29343764 2018 Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

PMID 29325163 2018 Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.

PMID 20418485 2010 Suggestive signals for association with 25(OH)D were also observed for SNPs in or near three other genes involved in vitamin D synthesis or activation: rs3829251 on chromosome 11q13.4 in NADSYN1 [encoding nicotinamide adenine dinucleotide (NAD) synthetase; P=8.8x10(-7)], which was in high LD with rs1790349, located in DHCR7, the gene encoding 7-dehydrocholesterol reductase that synthesizes cholesterol from 7-dehydrocholesterol; rs6599638 in the region harboring the open-reading frame 88 (C10orf88) on chromosome 10q26.13 in the vicinity of ACADSB (acyl-Coenzyme A dehydrogenase), involved in cholesterol and vitamin D synthesis (P=3.3x10(-7)); and rs2060793 on chromosome 11p15.2 in CYP2R1 (cytochrome P450, family 2, subfamily R, polypeptide 1, encoding a key C-25 hydroxylase that converts vitamin D3 to an active vitamin D receptor ligand; P=1.4x10(-5)).

PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs13107347 in NPFFR2 gene and Vitamin D measurement PMID 29325163 2018 Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.

rs1007392 in PDE3B gene and Vitamin D measurement PMID 25208829 2014 Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.

PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs182244780 in RRAS2 gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs8018720 in SEC23A gene and Vitamin D measurement PMID 29343764 2018 Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

rs117865811 in SPON1 gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.