ArticleScientific reports2014
Mutation in ST6GALNAC5 identified in family with coronary artery disease.
Article in Scientific reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 28 citations in OpenAlex.
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- Mechanistic and Therapeutic Implications of Protein and Lipid Sialylation in Human Diseases.International journal of molecular sciences · 2024Review
- Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?Life (Basel, Switzerland) · 2022Review
- Article
- A Novel Gene CDC27 Causes SLE and Is Associated With the Disease Activity.Frontiers in immunology · 2022Article
- A substitution mutation in LRP8 gene is significantly associated with susceptibility to familial myocardial infarction.ARYA atherosclerosis · 2020Article
- Genetic analysis of early onset familial coronary artery diseases.Archives of medical sciences. Atherosclerotic diseases · 2019Article
- Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.Journal of lipid research · 2018Article
- Discovery of PPP2R3A and TMX3 pathogenic variants in a Zhuang family with coronary artery disease using whole-exome sequencing.International journal of clinical and experimental pathology · 2018Article
- Sequences of 95 humanGenome research · 2017Article
- Genetics of coronary artery disease and myocardial infarction.World journal of cardiology · 2016Review
- miRNA proxy approach reveals hidden functions of glycosylation.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
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Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We aimed to identify the genetic cause of coronary artery disease (CAD) in an Iranian pedigree. Genetic linkage analysis identified three loci with an LOD score of 2.2. Twelve sequence variations identified by exome sequencing were tested for segregation with disease. A p.Val99Met causing mutation in ST6GALNAC5 was considered the likely cause of CAD. ST6GALNAC5 encodes sialyltransferase 7e. The variation affects a highly conserved amino acid, was absent in 800 controls, and was predicted to damage protein function. ST6GALNAC5 is positioned within loci previously linked to CAD-associated parameters. While hypercholesterolemia was a prominent feature in the family, clinical and genetic data suggest that this condition is not caused by the mutation in ST6GALNAC5. Sequencing of ST6GALNAC5 in 160 Iranian patients revealed a candidate causative stop-loss mutation in two other patients. The p.Val99Met and stop-loss mutations both caused increased sialyltransferase activity. Sequence data from combined Iranian and US controls and CAD affected individuals provided evidence consistent with potential role of ST6GALNAC5 in CAD. We conclude that ST6GALNAC5 mutations can cause CAD. There is substantial literature suggesting a relation between sialyltransferase and sialic acid levels and coronary disease. Our findings provide strong evidence for the existence of this relation.
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