BACKGROUND A chromosome 9p21 locus is associated with coronary heart disease in 25 independent populations, but multiple clinically distinct phenotypes have been evaluated. Using angiographic coronary artery disease (CAD) phenotyping, this study evaluated whether 9p21 single-nucleotide polymorphisms predict ischemic events (eg, myocardial infarction [MI]) among CAD patients. METHODS AND RESUL...

The middle of 2007 saw what may, with time, turn out to be the single most important discovery in the genetics of cardiovascular diseases. Within a few weeks, 4 independent genomewide association studies reported the association of the same locus on chromosome 9p21 with coronary artery disease (CAD) and myocardial infarction (MI).1– 4 In fact, of the hundreds of thousands single-nucleotide poly...

BACKGROUND Recent genome-wide association studies have identified several chromosome 9p21 single nucleotide polymorphisms associated with coronary artery disease and myocardial infarction in nonsurgical populations. We have recently demonstrated an independent association between these 9p21 variants and perioperative myocardial injury after isolated primary coronary artery bypass graft (CABG) s...

BACKGROUND Increased arterial stiffness is a cardiovascular outcome of metabolic syndrome (MetS). The chromosome 9p21 locus has been identified as a major locus for risk of coronary artery disease (CAD). The single nucleotide polymorphism (SNP), rs1333049 on chromosome 9p21.3 has been strongly associated with CAD and myocardial infarction. Increased arterial stiffness could be the link between ...

A new patient with trisomy for the chromosome segment 9pter----q22 is compared to 19 previously reported cases of partial trisomy 9. Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from 9p21 to 9q13, while intra-uterine growth retardation, cleft lip/palate, skeletal anomalies, a...

The recessive oncogene cylindromatosis (CYLD) mapping on 16q12-q13 is generally implicated in familial cylindromatosis, whereas a gene region for multiple familial trichoepithelioma has been assigned to 9p21. Markers from both chromosome intervals were subjected to linkage analysis in a large family with multiple hereditary trichoepithelioma (TE) from Algeria. Linkage to 9p21 was excluded, wher...

Variants at chromosome 9p21 are associated with coronary artery disease (CAD). However, the longitudinal effects of 9p21 variants on cardiovascular mortality remain controversial and may depend on whether the patient has CAD. We tested the hypothesis that the single-nucleotide polymorphism (SNP) rs4977574 is associated longitudinally with cardiovascular death in patients without detectable coro...

Genome-wide association studies (GWASs) have discovered numerous single nucleotide polymorphisms (SNPs) associated with human complex disorders. However, functional characterization of the disease-associated SNPs remains a formidable challenge. Here we explored regulatory mechanism of a SNP on chromosome 9p21 associated with endometriosis by leveraging "allele-specific" functional genomic appro...

PURPOSE Polypoidal choroidal vasculopathy (PCV) contains aneurismal morphologic and histopathologic feature and it is considered to be a possible distinct entity from neovascular age-related macular degeneration (AMD). In this study, the association of identified risk variants for intracranial aneurysm on chromosome 9p21 with PCV and neovascular AMD in a Chinese Han population was investigated....