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SNP information rs2060793

RS2060793

Normal allele: GG

This SNP is part of CYP2R1, which encodes a key C-25 hydroxylase that converts vitamin D3 to the active ligand of the vitamin D receptor.

Polymorphism rs2060793 is related to topics like this:

Genetic vitamin D deficiency

Vitamin D plays a vital role in maintaining musculoskeletal health. Recent studies have linked...


Research and publications:

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

  20541252   Common genetic determinants of vitamin D insufficiency: a genome-wide association study.

  21828234   Common genetic variants in the vitamin D pathway including genome-wide associated variants are not associated with breast cancer risk among Chinese women

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

  22205958   Common variation in vitamin D pathway genes predicts circulating 25-hydroxyvitamin D Levels among African Americans.

  22613962   Genetic influences on vitamin D status and forearm fracture risk in African American children.

  22649517   Polymorphisms related to the serum 25-hydroxyvitamin D level and risk of myocardial infarction, diabetes, cancer and mortality. The Tromsø Study.

  22801813   The GC, CYP2R1 and DHCR7 genes are associated with vitamin D levels in northeastern Han Chinese children.

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

  26177022   Association of VDR and CYP2R1 Polymorphisms with Mite-Sensitized Persistent Allergic Rhinitis in a Chinese Population.

  26193879   Genotype-independent association between profound vitamin D deficiency and delayed sputum smear conversion in pulmonary tuberculosis.

  26448018   Variants in Vitamin D Binding Protein Gene Are Associated With Gestational Diabetes Mellitus.

  26867646   Specific polymorphisms in the vitamin D metabolism pathway are not associated with susceptibility to Chlamydia trachomatis infection in humans.

  27160686   Vitamin D deficiency associates with susceptibility to tuberculosis in Pakistan, but polymorphisms in VDR, DBP and CYP2R1 do not.

  27625044   Genetically Low Vitamin D Levels, Bone Mineral Density, and Bone Metabolism Markers: a Mendelian Randomisation Study.

  27652346   Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk.

  28008453   Association of VDBP and CYP2R1 gene polymorphisms with vitamin D status in women with polycystic ovarian syndrome: a north Indian study.

  28079136   SNP rs11185644 of RXRA gene is identified for dose-response variability to vitamin D3 supplementation: a randomized clinical trial.

  28296915   Genetic variation in the vitamin D pathway CYP2R1 gene predicts sustained HBeAg seroconversion in chronic hepatitis B patients treated with pegylated interferon: A multicenter study.

  28415985   Vitamin D-related gene polymorphism predict treatment response to pegylated interferon-based therapy in Thai chronic hepatitis C patients.

  29220424   Genetically deprived vitamin D exposure predisposes to atrial fibrillation.

  29291743   SNPs related to vitamin D and breast cancer risk: a case-control study.

  29804528   Genetic Variants of CYP2R1 Are Key Regulators of Serum Vitamin D Levels and Incidence of Myocardial Infarction in Middle-Aged Egyptians.

  29892565   The genetic determinants of circulating C3-epimers of 25-hydroxyvitamin D.

  31030503   Vitamin D-Binding protein Gene Polymorphism Predicts Pegylated Interferon-Related HBsAg Seroclearance in HBeAg-Negative Thai Chronic Hepatitis B Patients: A Multicentre Study.

  31206955   Vitamin D level and gene polymorphisms in Korean children with type 1 diabetes.

  31357732   Association of Vitamin D Pathway Genetic Variation and Thyroid Cancer.

  31475028   Host Genetic Determinants of Hepatitis B Virus Infection.

  32764491   Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case-Control Association Study.

  34093899   Association of Polymorphisms in Vitamin D-Metabolizing Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review and Meta-Analysis.

  34565175   Mendelian Randomization Focused Analysis of Vitamin D on the Secondary Prevention of Ischemic Stroke.

  34578986   Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review.

  35093020   Mendelian randomization analysis of vitamin D in the secondary prevention of hypertensive-diabetic subjects: role of facilitating blood pressure control.

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