ArticlePloS one2013
Polymorphisms of CYP51A1 from cholesterol synthesis: associations with birth weight and maternal lipid levels and impact on CYP51 protein structure.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 26 citations in OpenAlex.
- Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome.Clinical kidney journal · 2024Article
- A nutrigenomics approach to study the effects of ω-3 fatty acids in laying hens under physiological stress.Frontiers in physiology · 2023Article
- Characterization of differentially expressed and lipid metabolism-related lncRNA-mRNA interaction networks during the growth of liver tissue through rabbit models.Frontiers in veterinary science · 2022Article
- Article
- Chronic Disruption of the Late Cholesterol Synthesis Leads to Female-Prevalent Liver Cancer.Cancers · 2020Article
- Dedifferentiation of Primary Hepatocytes is Accompanied with Reorganization of Lipid Metabolism Indicated by Altered Molecular Lipid and miRNA Profiles.International journal of molecular sciences · 2019Article
- Altered Expression of Small Intestinal Drug Transporters and Hepatic Metabolic Enzymes in a Mouse Model of Familial Alzheimer's Disease.Molecular pharmaceutics · 2018Article
- Editorial: Role of Protein-Protein Interactions in Metabolism: Genetics, Structure, Function.Frontiers in pharmacology · 2017Article
- Evaluation of Selected CYP51A1 Polymorphisms in View of Interactions with Substrate and Redox Partner.Frontiers in pharmacology · 2017Article
- Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update.BMC genomics · 2016Review
- Genetic alterations affecting cholesterol metabolism and human fertility.Biology of reproduction · 2014Review
- Hidden disease susceptibility and sexual dimorphism in the heterozygous knockout of Cyp51 from cholesterol synthesis.PloS one · 2014Article
- High-throughput functional screening of steroid substrates with wild-type and chimeric P450 enzymes.BioMed research international · 2014Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
We investigated the housekeeping cytochrome P450 CYP51A1 encoding lanosterol 14α-demethylase from cholesterol synthesis that was so far not directly linked to human disorders. By direct sequencing of CYP51A1 in 188 women with spontaneous preterm delivery and 188 unrelated preterm infants (gestational age <37 weeks) we identified 22 variants where 10 are novel and rare. In infants there were two novel CYP51A1 variants where damaging effects of p.Tyr145Asp from the substrate recognition region, but not p.Asn193Asp, were predicted by PolyPhen2 and SIFT. This was confirmed by molecular modeling showing that Tyr145Asp substitution results in changed electrostatic potential of the CYP51 protein surface and lengthened distance to the heme which prevents hydrogen bonding. The CYP51 Tyr145Asp mutation is rare and thus very interesting for further structure/function relationship studies. From the 12 identified known variants rs6465348 was chosen for family based association studies due to its high minor allele frequency. Interestingly, this CYP51A1 common variant associates with small for gestational age weight in newborns (p = 0.028) and lower blood total cholesterol and low density lipoprotein cholesterol levels in mothers in 2nd trimester of pregnancy (p = 0.042 and p = 0.046 respectively). Our results indicate a new link between a cholesterol synthesis gene CYP51A1 and pregnancy pathologies.
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