Publications by authors named "C R Pullinger"
Background: The genetic basis of hypertriglyceridemia (HTG) is complex and includes variants in Lipase Maturation Factor 1 (LMF1), an endoplasmic reticulum (ER)-chaperone involved in the post-translational activation of lipoprotein lipase (LPL).
Objective: The objective of this study was to identify and functionally characterize biallelic LMF1 variants in patients with HTG.
Methods: Genomic DNA sequencing was used to identify biallelic LMF1 variants in HTG patients without deleterious variants in LPL, apolipoprotein C-II (APOC2), glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 (GPIHBP1) or apolipoprotein A-V (APOA5).
Article Synopsis
- The study investigates the genetic basis of supraventricular tachycardias, focusing on atrioventricular nodal reentrant tachycardia (AVNRT) and atrioventricular accessory pathways/reciprocating tachycardia (AVAP/AVRT).
- Through multiancestry meta-analyses of genome-wide association studies, researchers identified significant genetic loci associated with AVNRT and AVAP/AVRT, implicating specific genes in these cardiac conditions.
- The results suggest that gene regions related to ion channels and cardiac development play crucial roles in susceptibility to supraventricular tachycardias, potentially influencing other cardiovascular issues such as atrial fibrillation
Article Synopsis
- African American smokers have a 2.5 times higher risk for stroke compared to nonsmokers, influenced by genetic variants (G1 and G2) of the apolipoprotein L1 gene that are more common in this population.
- A study involving 513 African American adults found that carriers of these genetic variants showed a significantly higher association between smoking and stroke prevalence, indicating that these genetic factors may increase stroke risk for current and former smokers.
- The findings suggest that African American smokers with these genetic risk variants are more vulnerable to stroke, whereas noncarriers did not show a similar correlation between smoking and stroke risk.
Introduction: Among African Americans, tobacco smokers have 2.5 times higher risk for stroke compared to non-smokers; the tobacco-related stroke risk being higher than in other races/ethnicities. About one half of African Americans carry at least one of two genetic variants (G1 and G2; rare in other races) of apolipoprotein L1 (apoL1), a component of high-density lipoproteins.
View Article and Find Full Text PDFMutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis. These lesions are precursors for blood cancers, but the basis of their fitness advantage remains largely unknown, partly owing to a paucity of large cohorts in which the clonal expansion rate has been assessed by longitudinal sampling. Here, to circumvent this limitation, we developed a method to infer the expansion rate from data from a single time point.
View Article and Find Full Text PDF