Evidence map›Paper›PMID 40770647›Full record

ArticleCardiovascular diabetology2025

Glucose metabolism in heterozygous familial hypercholesterolemia with a founder effect and a high diabetes prevalence: a cross-sectional study.

Ana María González-Lleó, Yeray Brito-Casillas, Virginia Martín-Santana, Yaiza Gil-Quintana, Antonio Tugores, Roberto Scicali, Marta Riaño, Luisa Hernández-Baraza, Roberto Jiménez-Monzón, Josefa Girona and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cardiovascular diabetology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

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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

15 authors.

Ana María González-LleóVascular Medicine and Metabolism Unit, Lipids and Atherosclerosis Research Unit, Sant Joan University Hospital, Avenida del Dr. Josep Laporte, 2, 43204, Reus, Tarragona, Spain. anamaria.gonzalez@salutsantjoan.cat.
Yeray Brito-CasillasUniversity Institute of Biomedical and Health Research (IUIBS), University of Las Palmas de Gran Canaria (ULPGC), Las Palmas de Gran Canaria, Spain.
Virginia Martín-SantanaPrudencio Guzmán Specialized Care Center, Maternal-Child Insular University Hospital Complex of Gran Canaria (CHUIMI), Las Palmas de Gran Canaria, Spain.
Yaiza Gil-QuintanaUniversity Institute of Biomedical and Health Research (IUIBS), University of Las Palmas de Gran Canaria (ULPGC), Las Palmas de Gran Canaria, Spain.
Antonio TugoresResearch Support Unit, Maternal-Child Insular University Hospital Complex of Gran Canaria (CHUIMI), Las Palmas de Gran Canaria, Spain.
Roberto ScicaliDepartment of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Marta RiañoBiochemistry Service, Maternal-Child Insular University Hospital Complex of Gran Canaria (CHUIMI), Las Palmas de Gran Canaria, Spain.
Luisa Hernández-BarazaUniversity Institute of Biomedical and Health Research (IUIBS), University of Las Palmas de Gran Canaria (ULPGC), Las Palmas de Gran Canaria, Spain.
Roberto Jiménez-MonzónUniversity Institute of Biomedical and Health Research (IUIBS), University of Las Palmas de Gran Canaria (ULPGC), Las Palmas de Gran Canaria, Spain.
Josefa GironaVascular Medicine and Metabolism Unit, Lipids and Atherosclerosis Research Unit, Sant Joan University Hospital, Avenida del Dr. Josep Laporte, 2, 43204, Reus, Tarragona, Spain.
Francesco Di Giacomo BarbagalloDepartment of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Luis MasanaVascular Medicine and Metabolism Unit, Lipids and Atherosclerosis Research Unit, Sant Joan University Hospital, Avenida del Dr. Josep Laporte, 2, 43204, Reus, Tarragona, Spain.
Mauro BoronatUniversity Institute of Biomedical and Health Research (IUIBS), University of Las Palmas de Gran Canaria (ULPGC), Las Palmas de Gran Canaria, Spain.
Ana M WägnerUniversity Institute of Biomedical and Health Research (IUIBS), University of Las Palmas de Gran Canaria (ULPGC), Las Palmas de Gran Canaria, Spain.
Rosa M Sánchez-HernándezUniversity Institute of Biomedical and Health Research (IUIBS), University of Las Palmas de Gran Canaria (ULPGC), Las Palmas de Gran Canaria, Spain.

Funding

Fundación Canaria Instituto de Investigación Sanitaria de Canarias PIFIISC 20/16Instituto de Salud Carlos III CM19/00116Instituto de Salud Carlos III,Spain PI 20/00846
6 · The paper itself

Abstract

backgroundHeterozygous familial hypercholesterolemia (HeFH) is typically associated with a lower prevalence of type 2 diabetes mellitus (T2DM). However, individuals carrying the p.[Tyr400_Phe402del]LDLR mutation, which is prevalent in Gran Canaria, exhibit an unexpectedly high prevalence of T2DM. This study aimed to investigate whether the p.[Tyr400_Phe402del] LDLR mutation co-segregates with T2DM and other glucose metabolism abnormalities.

methodsA total of 226 individuals were recruited, with 196 included in the final analysis. This included 90 HeFH patients from Gran Canaria (HeFH-GC) carrying the p.[Tyr400_Phe402del]LDLR mutation, 76 first-degree relatives (non-HeFH), and 30 HeFH patients from Italy (HeFH-It) with other LDLR mutations. Clinical, anthropometric, biochemical, and hematological parameters, including insulin resistance and sensitivity, were assessed via oral glucose tolerance tests (OGTT), and indices such as HOMA-IR, HOMA-beta, QUICKI, and the triglyceride‒glucose ratio were measured.

resultsAmong HeFH-GC participants, 20% had T2DM, similar to 18.4% in the non-HeFH group (p = NS). HOMA-beta was significantly greater in HeFH-GC patients (86.2 vs. 68.4; p = 0.046). Normoglycemic HeFH-GC individuals had elevated HOMA-IR [2.0 (1.3-2.9) vs. 1.3 (1.0-1.9); p = 0.008]. Compared with HeFH-It patients, HeFH-GC individuals had higher fasting glucose levels (99 vs. 92.5 mg/dL; p = 0.004) and lower 120-min post-OGTT glucose levels (115 vs. 136.5 mg/dL; p = 0.001). Lipid-lowering therapy, hypertension, hypertriglyceridemia, and increased waist circumference were associated with T2DM.

conclusionsHeFH patients from Gran Canaria exhibit a high prevalence of T2DM. The p.[Tyr400_Phe402del]LDLR mutation does not co-segregate with T2DM, but normoglycemic HeFH-GC individuals have greater insulin resistance. Additionally, lipid-lowering therapy, hypertension, hypertriglyceridemia, and increased waist circumference are factors associated with the prevalence of T2DM.

Indexed as

Blood GlucoseDiabetes Mellitus, Type 2Founder EffectHyperlipoproteinemia Type IIMutationReceptors, LDLAdultAgedBiomarkersCross-Sectional StudiesFemaleGenetic Predisposition to DiseaseHeredityHeterozygoteHumansInsulin ResistanceBiomarkersBlood GlucoseLDLR protein, humanReceptors, LDLFounder effectGlucose metabolismHeterozygous familial hypercholesterolemiaInsulin resistance indexOral glucose tolerance testType 2 diabetes

Identifiers

PMID40770647
PMCPMC12330011

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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.