Evidence map›Paper›PMID 38138952›Full record

ArticleJournal of personalized medicine2023

Prevalent Variants in the LDLR Gene Impair Responsiveness to Rosuvastatin among Family Members of Patients with Premature Myocardial Infarction.

Nguyen Trung Kien, Tran Tin Nghia, Nguyen Minh Hoang, Tran Nguyen Trong Phu, Pham Thi Ngoc Nga, Ha Thi Thao Mai, J Luis Espinoza

Open access · goldAbstract read
In one paragraph

Article in Journal of personalized medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 27% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Family hypercholesterolemia due toMolecular genetics and metabolism reports · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 4 institutions in 3 countries.

Nguyen Trung KienFaculty of Medicine, Can Tho University of Medicine and Pharmacy, Can Tho 900000, Vietnam.
Tran Tin NghiaFaculty of Medicine, Can Tho University of Medicine and Pharmacy, Can Tho 900000, Vietnam.ORCID 0000-0003-1485-2813
Nguyen Minh HoangTra Vinh General Hospital, Tra Vinh 940000, Vietnam.
Tran Nguyen Trong PhuFaculty of Medicine, Can Tho University of Medicine and Pharmacy, Can Tho 900000, Vietnam.
Pham Thi Ngoc NgaFaculty of Medicine, Can Tho University of Medicine and Pharmacy, Can Tho 900000, Vietnam.ORCID 0000-0002-9321-132X
Ha Thi Thao MaiFaculty of Medicine, Can Tho University of Medicine and Pharmacy, Can Tho 900000, Vietnam.ORCID 0000-0001-9962-2165
J Luis EspinozaFaculty of Health Sciences, Kanazawa University, Kanazawa 920-0942, Ishikawa, Japan.ORCID 0000-0002-1794-6666
Can Tho University · VNChulalongkorn University · THKanazawa University · JPTra Vinh University · VN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial hypercholesterolemia (FH) is an inherited metabolic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-c) from birth. About 85% of all FH cases are caused by pathogenic variants in the LDLR gene. Individuals with FH have increased cardiovascular risk, including a high risk of premature myocardial infarction (PMI).

methodsWe conducted an opportunistic exome screening to identify variants in the LDLR gene among Vietnamese patients with PMI treated at a general hospital in southern Vietnam. A cascade testing for LDLR variants was conducted in their relatives within three generations, and the effects of the LDLR variant on the response to rosuvastatin treatment were also studied using a comparative before-and-after study design on those who were eligible.

resultsA total of 99 participants from the three generations of four PMI patients were recruited, mean age 37.3 ± 18.5 years, 56.6% males. Sanger sequencing revealed two variants in the LDLR gene: variant rs577934998 (c.664T>C), detected in 17 individuals within one family, and variant rs12710260 (c.1060+10G>C), found in 32 individuals (49.5%) in the other three families tested. Individuals harboring the variant c.664T>C had significantly higher baseline LDL-c and total cholesterol levels compared to those with variant c.1060+10G>C (classified as benign) or those without LDLR variants, and among the 47 patients subjected to a 3-month course of rosuvastatin therapy, those with variant c.664T>C had a significantly higher risk of not achieving the LDL-c target after the course of treatment compared to the c.1060+10G>C carriers.

conclusionsThese findings provide evidence supporting the existence of pathogenic LDLR variants in Vietnamese patients with PMI and their relatives and may indicate the need for personalizing lipid-lowering therapies. Further studies are needed to delineate the extent and severity of the problem.

Indexed as

familial hypercholesterolemiagenetic metabolic diseaseLDLR gene variantpremature acute myocardial infarctionrosuvastatin

Identifiers

PMID38138952
PMCPMC10744399
OpenAlexW4389884241

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.