In this case-controlled study, we tested susceptible genetic variants for Alzheimer's disease (AD) in CR1, CLU and PICALM from genome-wide association studies (GWAS) in a southern Chinese population. Eight hundred twelve participants consisting of 462 late-onset Alzheimer's disease (LOAD) patients and 350 nondemented control subjects were recruited. We found by multivariate logistic regression analysis, that single nucleotide polymorphisms (SNPs) in CR1 (rs6656401 adjusted allelic p = 0.035; adjusted genotypic p = 0.043) and CLU (rs2279590 adjusted allelic p = 0.035; adjusted genotypic p = 0.006; rs11136000 adjusted allelic p = 0.038; adjusted genotypic p = 0.009) were significantly different between LOAD patients and nondemented controls. For PICALM, LOAD association was found only in the APOE ε4 (-) subgroup (rs3851179 adjusted allelic p = 0.028; adjusted genotypic p = 0.013). Our findings showed evidence of CR1, CLU, and PICALM and LOAD susceptibility in an independent southern Chinese population, which provides additional evidence for LOAD association apart from prior genome-wide association studies in Caucasian populations.
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http://dx.doi.org/10.1016/j.neurobiolaging.2011.09.016 | DOI Listing |
BMJ Open Respir Res
January 2025
Division of Respiratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Introduction: Persistent lung abnormalities following COVID-19 infection are common. Similar parenchymal changes are observed in idiopathic pulmonary fibrosis (IPF). We investigated whether common genetic risk factors in IPF are associated with developing lung parenchymal abnormalities following severe COVID-19 disease.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Gynecology, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, Guangdong, China.
Background: Endometriosis, a prevalent chronic gynecological condition, is frequently associated with infertility and pelvic pain. Despite numerous studies indicating a correlation between epigenetic regulation and endometriosis, its precise genetic etiology remains elusive. Methyltransferase-like 14 (METTL14), a crucial component of the N6-methyladenosine (mA) RNA methyltransferase complex and an RNA binding scaffold, is known to play a pivotal role in various human diseases.
View Article and Find Full Text PDFThe disproportionate risk for idiopathic proteinuric podocytopathies in Black people is explained, in part, by the presence of two risk alleles (G1 or G2) in the gene. The pathogenic mechanisms responsible for this genetic association remain incompletely understood. We analyzed glomerular RNASeq transcriptomes from patients with idiopathic nephrotic syndrome of which 72 had inferred African ancestry (AA) and 152 did not (noAA).
View Article and Find Full Text PDFBr J Haematol
January 2025
Center for Primary Care Research, Lund University, Malmo, Sweden.
Venous thromboembolism (VTE) involves blood clot formation in veins, resulting in serious health issues. Fibrinogen, a crucial clotting protein, consists of three polypeptides encoded by the fibrinogen genes: alpha (FGA), beta (FGB) and gamma (FGG). We genotyped most common missense variants in the fibrinogen genes in relation to VTE, recurrence and family history in Malmö Thrombophilia Study, including 1465 VTE patients followed for ~10 years and 429 healthy donors.
View Article and Find Full Text PDFJoint Bone Spine
January 2025
Marmara University, Institute of Health Sciences, Department of Medical Biology and Genetics, Istanbul, Turkey; Department of Medical Biology, School of Medicine, Marmara University, Istanbul, Turkey. Electronic address:
Objective: Bamboo spine is the most severe complication of Axial spondyloarthritis (AxSpA). This study aims to address whether haplotypes of endoplasmic reticulum aminopeptidase (ERAP)1 and ERAP2 single nucleotide polymorphisms (SNPs), previously associated with AXSPA, are associated with the development of bamboo spine in an AxSpA cohort.
Methods: The study included 192 patients with AxSpA followed in MARS (MARmara Spondyloarthritis) clinic and fulfilling the modified New York criteria.
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