ArticleJournal of clinical laboratory analysis2019
Family-based Association between Allele T of rs4646536 in CYP27B1 and vitamin D deficiency.
Article in Journal of clinical laboratory analysis, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review.Nutrients · 2021Pooled it
- Beyond VDR: Vitamin D Metabolism Genes in Tuberculosis Susceptibility, Immune Response and Implications for Diabetes Mellitus.Infection and drug resistance · 2026Review
- Condylar Bone Quality in Growing Children Is Associated With Genetic Polymorphisms in Genes Involved in Calcium and Phosphate Maintenance.BioMed research international · 2026Article
- Association between single nucleotide polymorphisms in vitamin D related and parathyroid hormone genes with nonsyndromic oral cleft.Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie · 2025Article
- Association of vitamin D pathway genes polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population.Genes & nutrition · 2021Article
- Vitamin D Metabolic Pathway Genes Polymorphisms and Their Methylation Levels in Association With Rheumatoid Arthritis.Frontiers in immunology · 2021Article
- Association study between genetic variants in vitamin D metabolism related genes and childhood autism spectrum disorder.Metabolic brain disease · 2020Article
- Family-based Association between Allele T of rs4646536 in CYP27B1 and vitamin D deficiency.Journal of clinical laboratory analysis · 2019Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe circulating concentration of 25(OH)D is widely applied to indicate the vitamin D status, as the directly metabolic genes of 25(OH)D, CYP2R1, and CYP27B1 are associated with the concentration of 25(OH)D. However, the contributions of allelic transmission disequilibrium of single nucleotide polymorphisms (SNPs) in these genes to vitamin D deficiency remain unclear. We aimed at investigating the family-based association between SNPs of CYP2R1 and CYP27B1 and vitamin D deficiency.
methodFirst, SNPs selected in family-based study were screened by a pilot case-control study. Second, allelic transmissions of the selected SNPs were investigated with family-based study (n = 880). Finally, associations between selected SNPs and the concentration of 25(OH)D were verified in siblings (n = 120).
resultsThe results of the pilot case-control study indicated that both CT and TT genotypes of rs4646536 in CYP27B1 could increase the susceptibility of vitamin D deficiency when compared with CC genotype. The adjusted ORs were 2.846 (95%CI 1.312-6.174, P = 0.008) and 2.609 (95%CI 1.197-5.687, P = 0.016), respectively. Furthermore, the results of family-based association test suggested that there was transmission disequilibrium for allele T of rs4646536 in vitamin D deficiency families. In addition, the concentration of 25(OH)D
conclusionsTransmission disequilibrium of allele T of rs4646536 is associated with vitamin D deficiency.
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