Adam D. McIntyre
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View article: Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia Open
View article: Heterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia
Heterozygous pathogenic PPARG variants in patients with severe hypertriglyceridemia Open
A small but clinically relevant subgroup of individuals with MCS has FPLD3. Clinical features in FPLD3 are subtle but the phenotype can be metabolically severe. Genetic screening of patients with severe hypertriglyceridemia should include …
View article: Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic Open
Background: Genetic causes of chronic diseases, once considered rare in adult-onset disease, now account for between 10 and 20% of cases of chronic kidney disease (CKD). Confirming a genetic diagnosis can influence disease management; howe…
View article: Lipoprotein Lipase: Structure, Function, and Genetic Variation
Lipoprotein Lipase: Structure, Function, and Genetic Variation Open
Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase (LPL) cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) pheno…
View article: Lipoprotein Lipase: Structure, Function, and Genetic Variation
Lipoprotein Lipase: Structure, Function, and Genetic Variation Open
Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase (LPL) cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) pheno…
View article: Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada Open
View article: Phenotype in Individuals with Heterozygous Rare Variants in LIPC Encoding Hepatic Lipase
Phenotype in Individuals with Heterozygous Rare Variants in LIPC Encoding Hepatic Lipase Open
Hepatic lipase deficiency is a rare genetic condition caused by biallelic loss-of-function variants in the LIPC gene encoding hepatic lipase. These variants reduce or abolish the protein’s lipolytic activity, resulting in elevated plasma l…
View article: Reduced lipoprotein (a) in patients with severe hypertriglyceridaemia
Reduced lipoprotein (a) in patients with severe hypertriglyceridaemia Open
Objective To investigate the relationship between plasma lipoprotein (a) (Lp[a]) and lipid profiles in patients with severe hypertriglyceridaemia (HTG). Methods This case–control study undertook a retrospective chart review of patients fro…
View article: Comparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome
Comparison of Patients With Familial Chylomicronemia Syndrome and Multifactorial Chylomicronemia Syndrome Open
Context Patients with rare familial chylomicronemia syndrome (FCS) and relatively common multifactorial chylomicronemia syndrome (MCS) both express severe hypertriglyceridemia, defined as plasma triglyceride concentration ≥10 mmol/L (≥885 …
View article: Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6
Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6 Open
Vascular calcification is prevalent in chronic kidney disease (CKD). Genetic causes of CKD account for 10-20% of adult-onset disease. Vascular calcification is thought to be one of the most important risk factors for increased cardiovascul…
View article: Rapid DNA Diagnosis of Familial Hypercholesterolemia Due to the LDLR 15.8-Kilobase Deletion
Rapid DNA Diagnosis of Familial Hypercholesterolemia Due to the LDLR 15.8-Kilobase Deletion Open
View article: Carotid intima-medial thickness in patients with severe hypertriglyceridemia
Carotid intima-medial thickness in patients with severe hypertriglyceridemia Open
View article: Lipoprotein(a) in Familial Hypercholesterolemia
Lipoprotein(a) in Familial Hypercholesterolemia Open
Lp(a) levels are independent of LDL-C and non-HDL-C; in particular Lp(a) levels are not increased in patients with hypercholesterolemia and molecularly proven HeFH. Apo B was only weakly associated with Lp(a). Elevated Lp(a) does not cause…
View article: Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE
Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE Open
Accurate approach to HTG diagnosis is important for the prevention of pancreatitis and ASCVD. Evaluation of variants in primary HTG after excluding secondary causes may help provide a patient-centric precision treatment plan.
View article: The longitudinal triglyceride phenotype in heterozygotes with LPL pathogenic variants
The longitudinal triglyceride phenotype in heterozygotes with LPL pathogenic variants Open
The heterozygous LPL deficient phenotype is highly variable both within and between patients. Heterozygosity confers susceptibility to a wide range of TG phenotypes, with severity likely depending on secondary factors.
View article: Defective KIM-1 phagocytosis does not predispose to acute graft dysfunction after kidney transplantation in humans
Defective KIM-1 phagocytosis does not predispose to acute graft dysfunction after kidney transplantation in humans Open
Ischemia-reperfusion injury (IRI) is common to several pathologic conditions, including myocardial infarction, stroke, acute kidney injury, and delayed graft function after kidney transplantation.1Eltzschig H.K. Eckle T. Ischemia and reper…
View article: 170: Cystic fibrosis–specific FEV1 to classify pulmonary function severity crossover
170: Cystic fibrosis–specific FEV1 to classify pulmonary function severity crossover Open
View article: Contribution of rare variant associations to neurodegenerative disease presentation
Contribution of rare variant associations to neurodegenerative disease presentation Open
View article: Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2
Prevalence of severe hypertriglyceridemia and pancreatitis in familial partial lipodystrophy type 2 Open
Familial partial lipodystrophy (FPLD) is a rare Mendelian condition listed in the differential diagnosis of severe hypertriglyceridemia (HTG) and pancreatitis. Here we determined the prevalence of severe HTG and pancreatitis among a cohort…
View article: Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype Open
Neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), can be clinically heterogeneous which may be explained by the co-inheritance of multiple genetic variants that modify the clinical course. In this study we examine …
View article: Evaluating Polygenic Risk Scores in “Lone” Atrial Fibrillation
Evaluating Polygenic Risk Scores in “Lone” Atrial Fibrillation Open
Our study evaluating 2 polygenic scores for AF suggests that the GPS, containing more than 6.7 million SNPs, exhibits an improved discriminatory capacity in lone AF compared with a PRS possessing 1168 SNPs. Our findings suggest that geneti…
View article: Role of Common Genetic Variation in Lone Atrial Fibrillation
Role of Common Genetic Variation in Lone Atrial Fibrillation Open
View article: Abetalipoproteinemia Due to a Novel Splicing Variant in <i>MTTP</i> in 3 Siblings
Abetalipoproteinemia Due to a Novel Splicing Variant in <i>MTTP</i> in 3 Siblings Open
Abetalipoproteinemia (ABL) is a rare recessive condition caused by biallelic loss-of-function mutations in the MTTP gene encoding the microsomal triglyceride transfer protein large subunit. ABL is characterized by absence of apolipoprotein…
View article: Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD
Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD Open
View article: Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in ‘lone’ atrial fibrillation
Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in ‘lone’ atrial fibrillation Open
Aims Atrial fibrillation (AF) is a complex heritable disease whose genetic underpinnings remain largely unexplained, though recent work has suggested that the arrhythmia may develop secondary to an underlying atrial cardiomyopathy. We soug…
View article: Combined hyperlipidemia is genetically similar to isolated hypertriglyceridemia
Combined hyperlipidemia is genetically similar to isolated hypertriglyceridemia Open
View article: Loss-of-Function <i>CREB3L3</i> Variants in Patients With Severe Hypertriglyceridemia
Loss-of-Function <i>CREB3L3</i> Variants in Patients With Severe Hypertriglyceridemia Open
Objective: Genetic determinants of severe hypertriglyceridemia include both common variants with small effects (assessed using polygenic risk scores) plus heterozygous and homozygous rare variants in canonical genes directly affecting trig…
View article: SUN-593 Variants in Known Monogenic Causal Genes of Hypertriglyceridemia Are Not Major Contributors for Hypertriglyceridemia in Lipodystrophy Due to a LMNA Mutation
SUN-593 Variants in Known Monogenic Causal Genes of Hypertriglyceridemia Are Not Major Contributors for Hypertriglyceridemia in Lipodystrophy Due to a LMNA Mutation Open
Background: Lipodystrophy is a heterogeneous disorder of adiposity, and one common lipid manifestation is hypertriglyceridemia (HTG). The LMNA gene, which encodes for nuclear envelope proteins, is a known causal gene for heritable lipodyst…
View article: Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias
Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias Open
View article: Additional file 1 of Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias
Additional file 1 of Six years’ experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias Open
Additional file 1: This additional file contains four supplemental tables, each in its own labelled tab. Table S1. Contains a description of each gene on the LipidSeq panel and what disorder or trait it is related to, as well its chromosma…