ArticlePloS one2013
Genetic polymorphisms in LDLR, APOB, PCSK9 and other lipid related genes associated with familial hypercholesterolemia in Malaysia.
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 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Relationships of LDLR genetic polymorphisms with cerebral infarction: a meta-analysis.Molecular biology reports · 2014Pooled it
- Association between parental consanguineous marriage and the incidence, age of onset, and severity of coronary artery disease: a cross-sectional study in Iran.Korean journal of family medicine · 2026Article
- Review
- Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study.JMIR research protocols · 2023Article
- Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.Genes · 2023Article
- Variation inFrontiers in cardiovascular medicine · 2023Article
- Common and RareInternational journal of molecular sciences · 2022Article
- Familial Hypercholesterolaemia in the Malaysian Community: Prevalence, Under-Detection and Under-Treatment.Journal of atherosclerosis and thrombosis · 2021Article
- Molecular diagnosis methods in familial hypercholesterolemia.Anatolian journal of cardiology · 2020Review
- Genetic Diagnosis of Familial Hypercholesterolemia in Asia.Frontiers in genetics · 2020Review
- Polymorphisms in PCSK9, LDLR, BCMO1, SLC12A3, and KCNJ1 are Associated with Serum Lipid Profile in Chinese Han Population.International journal of environmental research and public health · 2019Article
- Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of APOB.JAMA neurology · 2019Article
- The Study of rs693 and rs515135 in APOB in People with Familial Hypercholestrolemia.Cell journal · 2019Article
- Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.Clinical cardiology · 2019Article
- Article
- Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation.Lipids in health and disease · 2018Article
- A Rare Missense Mutation and a Polymorphism with High Frequency inAdvanced biomedical research · 2018Article
- Cholesterol Metabolism in T Cells.Frontiers in immunology · 2017Review
- Low-Density Lipoprotein Receptor Contributes to β-Carotene Uptake in the Maternal Liver.Nutrients · 2016Article
- Genetics of coronary artery disease - a clinician's perspective.Indian heart journalReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevations in total cholesterol (TC) and low density lipoprotein cholesterol (LDLc). Development of FH can result in the increase of risk for premature cardiovascular diseases (CVD). FH is primarily caused by genetic variations in Low Density Lipoprotein Receptor (LDLR), Apolipoprotein B (APOB) or Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) genes. Although FH has been extensively studied in the Caucasian population, there are limited reports of FH mutations in the Asian population. We investigated the association of previously reported genetic variants that are involved in lipid regulation in our study cohort. A total of 1536 polymorphisms previously implicated in FH were evaluated in 141 consecutive patients with clinical FH (defined by the Dutch Lipid Clinic Network criteria) and 111 unrelated control subjects without FH using high throughput microarray genotyping platform. Fourteen Single Nucleotide Polymorphisms (SNPs) were found to be significantly associated with FH, eleven with increased FH risk and three with decreased FH risk. Of the eleven SNPs associated with an increased risk of FH, only one SNP was found in the LDLR gene, seven in the APOB gene and three in the PCSK9 gene. SNP rs12720762 in APOB gene is associated with the highest risk of FH (odds ratio 14.78, p<0.001). Amongst the FH cases, 108 out of 141 (76.60%) have had at least one significant risk-associated SNP. Our study adds new information and knowledge on the genetic polymorphisms amongst Asians with FH, which may serve as potential markers in risk prediction and disease management.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.