{"doi":"10.1016/j.jsbmb.2015.12.007","title":"Single nucleotide polymorphisms in the vitamin D pathway associating with circulating concentrations of vitamin D metabolites and non-skeletal health outcomes: Review of genetic association studies","abstract":null,"journal":"The Journal of Steroid Biochemistry and Molecular Biology","year":2016,"id":673088,"datarank":0.7685945969104889,"base_score":5.123963979403259,"endowment":5.123963979403259,"self_citation_contribution":0.7685945969104889,"citation_network_contribution":0.0,"self_endowment_contribution":0.7685945969104889,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":167,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1758599,"name":"Robert T. Walton","orcid":null,"position":1,"is_corresponding":false},{"id":1758600,"name":"Christopher J. Griffiths","orcid":null,"position":2,"is_corresponding":false},{"id":361627,"name":"Adrian R. Martineau","orcid":"0000-0001-5387-1721","position":3,"is_corresponding":false},{"id":1295013,"name":"David A. Jolliffe","orcid":"0000-0003-3592-1945","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Single nucleotide polymorphisms in the vitamin D pathway associating with circulating concentrations of vitamin D metabolites and non-skeletal health outcomes: Review of genetic association studies","abstract":"Polymorphisms in genes encoding proteins involved in vitamin D metabolism and transport are recognised to influence vitamin D status. Syntheses of genetic association studies linking these variants to non-skeletal health outcomes are lacking. We therefore conducted a literature review to identify reports of statistically significant associations between single nucleotide polymorphisms (SNP) in 11 vitamin D pathway genes (DHCR7, CYP2R1, CYP3A4, CYP27A1, DBP, LRP2, CUB, CYP27B1, CYP24A1, VDR and RXRA) and non-bone health outcomes and circulating levels of 25-hydroxyvitamin D (25[OH]D and 1,25-dihydroxyvitamin D (1,25[OH]<sub>2</sub>D). A total of 120 genetic association studies reported positive associations, of which 44 investigated determinants of circulating 25(OH)D and/or 1,25(OH)<sub>2</sub>D concentrations, and 76 investigated determinants of non-skeletal health outcomes. Statistically significant associations were reported for a total of 55 SNP in the 11 genes investigated. There was limited overlap between genetic determinants of vitamin D status and those associated with non-skeletal health outcomes: polymorphisms in DBP, CYP2R1 and DHCR7 were the most frequent to be reported to associate with circulating concentrations of 25(OH)D, while polymorphisms in VDR were most commonly reported to associate with non-skeletal health outcomes, among which infectious and autoimmune diseases were the most represented.","is_dataset_classified":null,"base_score":5.123963979403259,"endowment":5.123963979403259,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"26686945","pmcid":null,"openalex_id":"https://openalex.org/W2194184429","authors":[],"funders":[{"funder_name":"Medical Research Council","grant_id":"MC_U190081977","title":null},{"funder_name":"National Institute for Health Research (NIHR)","grant_id":"NF-SI-0515-10076","title":null},{"funder_name":"National Institute for Health Research (NIHR)","grant_id":"RP-PG-0609-10181","title":null},{"funder_name":"Medical Research Council","grant_id":"MC_U190092710","title":null}],"total_grants":4,"fwci":8.6363,"citation_percentile":0.9852793,"influential_citations":0,"citation_trend":[{"year":2016,"count":11},{"year":2017,"count":13},{"year":2018,"count":17},{"year":2019,"count":47},{"year":2020,"count":23},{"year":2021,"count":14},{"year":2022,"count":13},{"year":2023,"count":6},{"year":2024,"count":4},{"year":2025,"count":13},{"year":2026,"count":6}],"oa_status":"closed","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0960076015301539?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0960076015301539?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.jsbmb.2015.12.007","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/26686945","host_type":"repository"},{"url":"http://qmro.qmul.ac.uk/xmlui/handle/123456789/11474","host_type":"repository"}],"fields_of_study":["Vitamin D Research Studies","Vitamin C and Antioxidants Research","Nutrition, Genetics, and Disease"],"mesh_terms":["Cytochrome P450 Family 2","DNA-Binding Proteins","Female","Humans","Male","Mutation","Phenotype","Protein Binding","Risk","Transcription Factors","Vitamin D","25-Hydroxyvitamin D3 1-alpha-Hydroxylase","Meta-Analysis as Topic","Autoimmunity","Treatment Outcome","Receptors, Calcitriol","Genetic Predisposition to Disease","Polymorphism, Single Nucleotide","Oxidoreductases Acting on CH-CH Group Donors","Cholestanetriol 26-Monooxygenase","Genetic Association Studies"],"keywords":["CYP24A1","Vitamin D and neurology","Calcitriol receptor","Single-nucleotide polymorphism","Genetic association","SNP","Biology","vitamin D deficiency","Endocrinology","Vitamin D-binding protein","Internal medicine","Vitamin","Genetics","Medicine","Gene","Genotype","Vitamin D","Single nucleotide polymorphism","Genome-wide Association Studies","Vitamin D Status","Candidate Gene Association Studies","Non-skeletal Diseases"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-16T12:19:27.676736Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}