ArticleJournal of research in medical sciences : the official journal of Isfahan University of Medical Sciences2021
Apolipoprotein B gene mutation related to familial hypercholesterolemia in an Iranian population: With or without hypothyroidism.
Article in Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 4 citations in OpenAlex.
- Isfahan familial hypercholesterolemia cohort (IFHC) study: Methods, insights and early results.ARYA atherosclerosis · 2026Article
- Familial Hypercholesterolemia (FH) in Iran: Findings from the Four-Year FH Registry.Journal of lipids · 2021Article
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12 authors at 2 institutions in 2 countries.
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Abstract
backgroundFamilial hypercholesterolemia (FH) leads to elevated low-density lipoprotein cholesterol (LDL-C) levels in plasma. Mutations of its related gene; apolipoprotein B (APOB) is seen in about two percent of the patient with FH. Thyroid disease is usually part of the exclusion criteria for the detection of FH which alters the lipid profile. We evaluated mutations in the MATERIALS AND
methodsPatients aged between 2 and 80 years with at least one LDL-C level of more than 190 mg/dl were selected (120 patients) from Isfahan Laboratories. Blood samples were obtained from all patients. Genomic DNA was extracted. Primer sequences were designed by Oligo 7.60 to amplify the desired 844 bp region of exon 26 of the
resultsOverall, two patients showed a heterozygous form of a common pathogenic variant in exon 26 named c. 10579 C > T (R3500W, cDNA.10707), and one patient was hypothyroidism. We also recognized another nonpathognomonic variant c. 10913G > A (rs1801701, cDNA.11041) in 13 patients, two of them were hypothyroidism.
conclusionThis study for the first time shows the coexistence of
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