Kathalina Puerto-Baracaldo MD, Mateo Amaya-Montoya MD, Gustavo Parra-Serrano MD, Diana C. Prada-Robles BSc MSc, Sergio Serrano-Gómez MD MSc, Lina M. Restrepo-Giraldo MD MSc, María C. Fragozo-Ramos MD, Verónica Tangarife BSc MSc, Germán C. Giraldo-González MD PhD, Carlos A. Builes-Barrera MD, Melisa S. Naranjo-Vanegas MD MSc, Andrés Gómez-Aldana MD, Juan Pablo Llano MD, Nayibe Gil-Ochoa BSc, Luz D. Nieves-Barreto MV MSc, Paula V. Gaete MD MSc, Maritza Pérez-Mayorga MD, Carlos O. Mendivil MD MSc PhD
{"title":"哥伦比亚高甘油三酯血症患者中甘油三酯代谢基因的遗传变异","authors":"Kathalina Puerto-Baracaldo MD, Mateo Amaya-Montoya MD, Gustavo Parra-Serrano MD, Diana C. Prada-Robles BSc MSc, Sergio Serrano-Gómez MD MSc, Lina M. Restrepo-Giraldo MD MSc, María C. Fragozo-Ramos MD, Verónica Tangarife BSc MSc, Germán C. Giraldo-González MD PhD, Carlos A. Builes-Barrera MD, Melisa S. Naranjo-Vanegas MD MSc, Andrés Gómez-Aldana MD, Juan Pablo Llano MD, Nayibe Gil-Ochoa BSc, Luz D. Nieves-Barreto MV MSc, Paula V. Gaete MD MSc, Maritza Pérez-Mayorga MD, Carlos O. Mendivil MD MSc PhD","doi":"10.1016/j.jacl.2024.08.006","DOIUrl":null,"url":null,"abstract":"The genetic substrate of severe hypertriglyceridemia (sHTG) in Latin America is insufficiently understood. To identify genetic variants in genes related to triglyceride (TG) metabolism among adults with sHTG from Colombia. In individuals with plasma TG≥880 mg/dL at least once in their lifetime, we amplified and sequenced all exons and intron/exon boundaries of the genes and . For each variant we ascertained its location, zygosity, allelic frequency and pathogenicity classification according to American College of Medical Genetics (ACMG) criteria. The study included 166 participants (62 % male, mean age 50), peak TG levels ranged between 894 and 11,000 mg/dL. We identified 92 variants: 19 in , 7 in , 11 in , 38 in , and 17 in . Eighteen of these variants had not been reported. We identified a new pathogenic variant in (c.41C>A; p.Ser14*), a new likely pathogenic variant in (c.1527 C > T; p.Pro509=, also expressed as c.1447C>T; p.Gln483*), and a known pathogenic variant in (c.779G>A; p.Trp260*). Four participants were heterozygous for variant c.953A>G; p.Asn318Ser in , a known risk factor for hypertriglyceridemia. Participants with variants of unknown significance (VUS) in had significantly higher peak TG than those with VUS in other genes. Peak TG were 4317 mg/dL in participants with a history of pancreatitis, and 1769 mg/dL in those without it ( = 0.001). Our study identified variants associated with sHTG among Latinos, and showed that genetic variation in may be frequently associated with sHTG in this population.","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"2 1","pages":""},"PeriodicalIF":3.6000,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic variants in triglyceride metabolism genes among individuals with hypertriglyceridemia in Colombia\",\"authors\":\"Kathalina Puerto-Baracaldo MD, Mateo Amaya-Montoya MD, Gustavo Parra-Serrano MD, Diana C. Prada-Robles BSc MSc, Sergio Serrano-Gómez MD MSc, Lina M. Restrepo-Giraldo MD MSc, María C. Fragozo-Ramos MD, Verónica Tangarife BSc MSc, Germán C. Giraldo-González MD PhD, Carlos A. Builes-Barrera MD, Melisa S. Naranjo-Vanegas MD MSc, Andrés Gómez-Aldana MD, Juan Pablo Llano MD, Nayibe Gil-Ochoa BSc, Luz D. Nieves-Barreto MV MSc, Paula V. Gaete MD MSc, Maritza Pérez-Mayorga MD, Carlos O. Mendivil MD MSc PhD\",\"doi\":\"10.1016/j.jacl.2024.08.006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The genetic substrate of severe hypertriglyceridemia (sHTG) in Latin America is insufficiently understood. To identify genetic variants in genes related to triglyceride (TG) metabolism among adults with sHTG from Colombia. In individuals with plasma TG≥880 mg/dL at least once in their lifetime, we amplified and sequenced all exons and intron/exon boundaries of the genes and . For each variant we ascertained its location, zygosity, allelic frequency and pathogenicity classification according to American College of Medical Genetics (ACMG) criteria. The study included 166 participants (62 % male, mean age 50), peak TG levels ranged between 894 and 11,000 mg/dL. We identified 92 variants: 19 in , 7 in , 11 in , 38 in , and 17 in . Eighteen of these variants had not been reported. We identified a new pathogenic variant in (c.41C>A; p.Ser14*), a new likely pathogenic variant in (c.1527 C > T; p.Pro509=, also expressed as c.1447C>T; p.Gln483*), and a known pathogenic variant in (c.779G>A; p.Trp260*). Four participants were heterozygous for variant c.953A>G; p.Asn318Ser in , a known risk factor for hypertriglyceridemia. Participants with variants of unknown significance (VUS) in had significantly higher peak TG than those with VUS in other genes. Peak TG were 4317 mg/dL in participants with a history of pancreatitis, and 1769 mg/dL in those without it ( = 0.001). Our study identified variants associated with sHTG among Latinos, and showed that genetic variation in may be frequently associated with sHTG in this population.\",\"PeriodicalId\":15392,\"journal\":{\"name\":\"Journal of clinical lipidology\",\"volume\":\"2 1\",\"pages\":\"\"},\"PeriodicalIF\":3.6000,\"publicationDate\":\"2024-08-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of clinical lipidology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.jacl.2024.08.006\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of clinical lipidology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.jacl.2024.08.006","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
Genetic variants in triglyceride metabolism genes among individuals with hypertriglyceridemia in Colombia
The genetic substrate of severe hypertriglyceridemia (sHTG) in Latin America is insufficiently understood. To identify genetic variants in genes related to triglyceride (TG) metabolism among adults with sHTG from Colombia. In individuals with plasma TG≥880 mg/dL at least once in their lifetime, we amplified and sequenced all exons and intron/exon boundaries of the genes and . For each variant we ascertained its location, zygosity, allelic frequency and pathogenicity classification according to American College of Medical Genetics (ACMG) criteria. The study included 166 participants (62 % male, mean age 50), peak TG levels ranged between 894 and 11,000 mg/dL. We identified 92 variants: 19 in , 7 in , 11 in , 38 in , and 17 in . Eighteen of these variants had not been reported. We identified a new pathogenic variant in (c.41C>A; p.Ser14*), a new likely pathogenic variant in (c.1527 C > T; p.Pro509=, also expressed as c.1447C>T; p.Gln483*), and a known pathogenic variant in (c.779G>A; p.Trp260*). Four participants were heterozygous for variant c.953A>G; p.Asn318Ser in , a known risk factor for hypertriglyceridemia. Participants with variants of unknown significance (VUS) in had significantly higher peak TG than those with VUS in other genes. Peak TG were 4317 mg/dL in participants with a history of pancreatitis, and 1769 mg/dL in those without it ( = 0.001). Our study identified variants associated with sHTG among Latinos, and showed that genetic variation in may be frequently associated with sHTG in this population.
期刊介绍:
Because the scope of clinical lipidology is broad, the topics addressed by the Journal are equally diverse. Typical articles explore lipidology as it is practiced in the treatment setting, recent developments in pharmacological research, reports of treatment and trials, case studies, the impact of lifestyle modification, and similar academic material of interest to the practitioner. While preference is given to material of immediate practical concern, the science that underpins lipidology is forwarded by expert contributors so that evidence-based approaches to reducing cardiovascular and coronary heart disease can be made immediately available to our readers. Sections of the Journal will address pioneering studies and the clinicians who conduct them, case studies, ethical standards and conduct, professional guidance such as ATP and NCEP, editorial commentary, letters from readers, National Lipid Association (NLA) news and upcoming event information, as well as abstracts from the NLA annual scientific sessions and the scientific forums held by its chapters, when appropriate.