title: Genetic variation within the Y chromosome is not associated with histological characteristics of the atherosclerotic carotid artery or aneurysmal wall.
abstract: Haplogroup I, a common European paternal lineage of the Y chromosome, is associated with increased risk of coronary artery disease in British men. It is unclear whether this haplogroup or any other haplogroup on the Y chromosome is associated with histological characteristics of the diseased vessel wall in other vascular manifestations of cardiovascular diseases showing a male preponderance.
  
  
  
  We examined Dutch men undergoing either carotid endarterectomy from the Athero-Express biobank (AE, n = 1217) or open aneurysm repair from the Aneurysm-Express biobank (AAA, n = 393). Upon resolving the Y chromosome phylogeny, each man was assigned to one of the paternal lineages based on combinations of single nucleotide polymorphisms of the male-specific region of the Y chromosome. We examined the associations between the Y chromosome and the histological characteristics of the carotid plaque and aneurysm wall, including lipid content, leukocyte infiltration and intraplaque haemorrhage, in all men.
  
  
  
  A majority of men were carriers of either haplogroup I (AE: 28% AAA: 24%) or haplogroup R (AE: 59% AAA: 61%). We found no association between Y chromosomal haplogroups and histological characteristics of plaque collected from carotid arteries or tissue specimens of aneurysms. Moreover, the distribution of frequency for all Y chromosomal haplogroups in both cohorts was similar to that of a general population of Dutch men.
  
  
  
  Our data show that genetic variation on the Y chromosome is not associated with histological characteristics of the plaques from carotid arteries or specimens of aneurysms in men of Dutch origin.
authors.affiliation: Experimental Cardiology Laboratory, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Saskia
authors.initials: S
authors.lastname: Haitjema
authors.affiliation: Experimental Cardiology Laboratory, University Medical Center Utrecht, Utrecht, The Netherlands; Netherlands Heart Institute, Utrecht, The Netherlands.
authors.forename: Jessica
authors.initials: J
authors.lastname: van Setten
authors.affiliation: Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
authors.forename: James
authors.initials: J
authors.lastname: Eales
authors.affiliation: Experimental Cardiology Laboratory, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Sander W
authors.initials: SW
authors.lastname: van der Laan
authors.affiliation: Department of Medical Sciences, University of Trieste, Trieste, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Gandin
authors.affiliation: Department of Vascular Surgery, St. Antonius Hospital Nieuwegein, Nieuwegein, The Netherlands.
authors.forename: Jean-Paul P M
authors.initials: JP
authors.lastname: de Vries
authors.affiliation: Department of Vascular Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Gert J
authors.initials: GJ
authors.lastname: de Borst
authors.affiliation: Experimental Cardiology Laboratory, University Medical Center Utrecht, Utrecht, The Netherlands; Laboratory of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Gerard
authors.initials: G
authors.lastname: Pasterkamp
authors.affiliation: Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands; Durrer Center for Cardiogenetic Research, ICIN-Netherlands Heart Institute, Utrecht, The Netherlands; Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom.
authors.forename: Folkert W
authors.initials: FW
authors.lastname: Asselbergs
authors.affiliation: Faculty of Science and Technology, Federation University Australia, Ballarat, Australia.
authors.forename: Fadi J
authors.initials: FJ
authors.lastname: Charchar
authors.affiliation: Centre for Global Health Research, Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, Scotland, United Kingdom; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, Scotland, United Kingdom.
authors.forename: James F
authors.initials: JF
authors.lastname: Wilson
authors.affiliation: Experimental Cardiology Laboratory, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Saskia C A
authors.initials: SC
authors.lastname: de Jager
authors.affiliation: Division of Cardiovascular Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom; Division of Medicine, Central Manchester NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom.
authors.forename: Maciej
authors.initials: M
authors.lastname: Tomaszewski
authors.affiliation: Experimental Cardiology Laboratory, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: h.m.denruijter-2@umcutrecht.nl.
authors.forename: Hester M
authors.initials: HM
authors.lastname: den Ruijter
mesh_terms: D000368:Aged; D000783:Aneurysm / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D050197:Atherosclerosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002339:Carotid Arteries / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D002340:Carotid Artery Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D041322:Chromosomes, Human, Y; D016894:Endarterectomy, Carotid; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D012307:Risk Factors; D012737:Sex Factors
keywords: Aneurysm; Carotid endarterectomy; Haplogroups; Histology; Men; Plaque characteristics; Y chromosome