Abstract:
BACKGROUND:The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic variants on amyloid β (Aβ) metabolism of AD human is still unclear. Hence, the aim of this study was to investigate genetic influences of CR1 gene on Aβ metabolism. METHODS:All data of AD patients and normal controls (NC) were obtained from alzheimer's disease neuroimaging initiative database (ADNI) database. In order to assess the effect of each single nucleotide polymorphism (SNP) of CR1 on Aβ metabolism, the PLINK software was used to conduct the quality control procedures to enroll appropriate SNPs. Moreover, the correlation between CR1 genotypes and Aβ metabolism in all participants were estimated with multiple linear regression models. RESULTS:After quality control procedures, a total of 329 samples and 83 SNPs were enrolled in our study. Moreover, our results identified five SNPs (rs10494884, rs11118322, rs1323721, rs17259045 and rs41308433), which were linked to Aβ accumulation in brain. In further analyses, rs17259045 was found to decrease Aβ accumulation among AD patients. Additionally, our study revealed the genetic variants in rs12567945 could increase CSF Aβ42 in NC population. CONCLUSIONS:Our study had revealed several novel SNPs in CR1 genes which might be involved in the progression of AD via regulating Aβ accumulation. These findings will provide a new basis for the diagnosis and treatment AD.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Zhu XC,Dai WZ,Ma Tdoi
10.1186/s12881-020-01114-xsubject
Has Abstractpub_date
2020-09-12 00:00:00pages
181issue
1issn
1471-2350pii
10.1186/s12881-020-01114-xjournal_volume
21pub_type
杂志文章abstract:BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan. METHODS:A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 20...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0737-z
更新日期:2019-01-05 00:00:00
abstract:BACKGROUND:Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0337-8
更新日期:2016-10-12 00:00:00
abstract:BACKGROUND:Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been reported, structural abnormalities in this gene are rare. We here describe a female OTCD case ca...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0733-3
更新日期:2018-12-12 00:00:00
abstract:BACKGROUND:It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic si...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-117
更新日期:2010-07-29 00:00:00
abstract:BACKGROUND:Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most...
journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2006-04-05 00:00:00
abstract:BACKGROUND:Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. METHODOLOGY:In this repo...
journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2012-03-19 00:00:00
abstract:BACKGROUND:Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between intron 22 homologous region 1 (int22h1) and 2 (int22h2), which, in addition to int22h3, are also responsible for inversions disrupting the F8 gene in hemoph...
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更新日期:2015-03-14 00:00:00
abstract:BACKGROUND:Preeclampsia is a frequent complication of pregnancy and a leading cause of perinatal mortality. Both genetic and environmental risk factors have been identified. Lipid metabolism, particularly cholesterol metabolism, is associated with this disease. Liver X receptors alpha (NR1H3, also known as LXRalpha) an...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-145
更新日期:2011-10-26 00:00:00
abstract:BACKGROUND:Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior findings in non-obese preschool-aged Hispanic children identified 17 CpG dinucleotides for which di...
journal_title:BMC medical genetics
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更新日期:2020-02-14 00:00:00
abstract:BACKGROUND:Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database (AGDB) using three sources of genealogies and multiple updates. In addition, we developed PedHunter...
journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2010-05-02 00:00:00
abstract:BACKGROUND:Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. METHODS:We used genome-wide linkage analysis and whole-exome sequencing in c...
journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2018-07-05 00:00:00
abstract:BACKGROUND:Asthma genetics has been extensively studied and many genes have been associated with the development or severity of this disease. In contrast, the genetic basis of allergic rhinitis (AR) has not been evaluated as extensively. It is well known that asthma is closely related with AR since a large proportion o...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-51
更新日期:2013-05-10 00:00:00
abstract:BACKGROUND:Recent genome-wide association (GWA) studies have identified several unsuspected genes associated with type 2 diabetes (T2D) with previously unknown functions. In this investigation, we have examined the role of 9 most significant SNPs reported in GWA studies: [peroxisome proliferator-activated receptor gamm...
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更新日期:2008-07-03 00:00:00
abstract:BACKGROUND:Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family cascade screening. Many ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0176-z
更新日期:2015-05-13 00:00:00
abstract:BACKGROUND:About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequencing of entire coding regions. In some populations, especially if relatively isolated, a few number...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0274-6
更新日期:2016-02-06 00:00:00
abstract:BACKGROUND:Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessiv...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0404-9
更新日期:2017-05-03 00:00:00
abstract:BACKGROUND:Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reasons a large number of Iraqi patients present to Lebanon for medical care. This is the first repor...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0885-9
更新日期:2019-09-05 00:00:00
abstract:BACKGROUND:We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poisoning (DEACMP), which might provide a theoretical basis for the pathogenesis, diagnosis, and prognosis...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0931-7
更新日期:2019-12-16 00:00:00
abstract:BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perraul...
journal_title:BMC medical genetics
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更新日期:2020-03-31 00:00:00
abstract:BACKGROUND:Some Hirschsprung's disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed to inve...
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更新日期:2018-02-13 00:00:00
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journal_title:BMC medical genetics
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更新日期:2018-10-17 00:00:00
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更新日期:2013-12-29 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2011-01-28 00:00:00
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更新日期:2010-06-17 00:00:00
abstract:BACKGROUND:Mutation analysis of KIT and PDGFRA genes in gastrointestinal stromal tumors is gaining increasing importance for prognosis of GISTs and for prediction of treatment response. Several groups have identified specific mutational subtypes in KIT exon 11 associated with an increased risk of metastatic disease whe...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-106
更新日期:2010-07-04 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
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更新日期:2019-12-10 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2019-05-30 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-42
更新日期:2008-05-20 00:00:00
abstract:BACKGROUND:Platelet-derived growth factor (PDGF) D has been reported to be active in fibroblasts, and in areas of myocardial infarction. In this longitudinal study we evaluated the association between PDGF-D polymorphism and cardiovascular mortality, and attempted to discover whether specific genotype differences regar...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0325-z
更新日期:2016-09-01 00:00:00
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journal_title:BMC medical genetics
pub_type: 杂志文章
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更新日期:2019-06-07 00:00:00