GoodScienceForYou
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The obvious isn't obvious until it is obvious
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This is the big deal with Atheists and Evodelusionists and Creationists don't like this either. This CCR5 delta 32 deletion mutations is now found to have bad effects in over 9 genetically caused deaths and diseases.
If you have both parents with this gene you will get it. It is a deletion of 32 base pairs in
Cell Mol Neurobiol. 2009 Dec;29(8):1205-9. CCR5-delta 32 allele is associated with the risk of developing multiple sclerosis in the Iranian population. Shahbazi M, Ebadi H, Fathi D, Roshandel D, Mahamadhoseeni M, Rashidbaghan A, Mahammadi N, Mahammadi MR, Zamani M. Source Medical Cellular & Molecular Research Center, Golestan University of Medical Sciences, Gorgan, Iran. shahbazimajid@yahoo.co.uk
Abstract The 32-base pair deletion on the C-C chemokine receptor 5 gene (CCR5-delta 32) is known as a protective allele against immune system disorders. We have studied this variation in Iranian multiple sclerosis (MS) patients and healthy controls. DNA samples were prepared from the whole blood of 254 patients with MS and 380 healthy controls. We amplified the fragment including the CCR5-delta 32 polymorphism and visualized the products in a documentation system after agarose gel electrophoresis. Data were analysed using one-way ANOVA and Fisher's exact tests with SPSS-v13 and STATA-v8 software. The delta 32 allele was more frequent in MS patients when compared with controls (OR = 2.3, P < 0.0001). Also, we found a significant difference in the frequency of the delta 32/delta 32 genotype among patients and controls (OR = 7.4, P < 0.001). The mean age at onset and progression index was not significantly different between patients with various genotypes. According to our study, the delta 32 allele of the CCR5 gene might be a predisposing factor for MS development in the Iranian population. However, there were no associations between this polymorphism and the clinical course of the disease in this study.
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Feedback UKPMC Labs >> Home About RSS Feeds Journal List Grant Lookup FAQ and Guides UKPMC+ Clear Search Advanced Search Recent Activity | Clipboard CCR5 (chemokine receptor-5) DNA-polymorphism influences the severity of rheumatoid arthritis. (PMID:11196706) Abstract Citations BioEntities Related Articles Zapico I, Coto E, Rodríguez A, Alvarez C, Torre JC, Alvarez V Servicio de Reumatología, Hospital Central de Asturias, Oviedo, Spain. Genes and Immunity [2000, 1(4):288-9] Type: Journal Article, Research Support, Non-U.S. Gov't
DOI: 10.1038/sj.gene.6363673
Abstract Highlight Terms Gene Ontology(1) Diseases(4) Genes/Proteins(2) Species(1) Chemokines are critical for the inflammatory process in autoimmune diseases such as rheumatoid arthritis (RA). The chemokine receptor-5 (CCR5) mediates chemotaxis by CC-chemokines and is expressed by lymphocytes with the Th1 phenotype and monocyte/macrophages. A 32 bp deletion in the CCR5 (CCR5-delta 32 allele) abolishes receptor expression in homozygotes, while CCR5-delta 32 carriers would express less receptor than wild-type homozygotes. This polymorphism is related to the resistance to HIV-1 infection and progression towards AIDS. We hypothesized that the CCR5-delta 32 allele may modulate the severity of disease in RA. A total of 160 RA-patients (71 and 89 with severe and non-severe phenotypes, respectively) and 500 healthy individuals from the same Caucasian population (Asturias, northern Spain) were genotyped. Carriers of the CCR5-delta 32 allele were at a significantly higher frequency (P = 0.012) in non-severe compared to severe patients (17% vs 4%). Our results suggest that the CCR5-delta 32 polymorphism is a genetic marker related to the severity of RA. -------------------------------
CCR5-32 mutation is strongly associated with primary sclerosing cholangitis
R Eri1, J R Jonsson2, N Pandeya3, D M Purdie3, A D Clouston2, N Martin4, D Duffy4, E E Powell2,5, J Fawcett6, T H J Florin1,7 and G L Radford-Smith1,8
--------------------------------------- 1 of 2A Risk of Diabetic Nephropathy in Type 1 Diabetes Is Associated With Functional Polymorphisms in RANTES Receptor Gene (CCR5) A Sex-Specific Effect Wojciech M. Mlynarski123, Grzegorz P. Placha12, Pawel P. Wolkow12, Jacek P. Bochenski12, James H. Warram1 and Andrzej S. Krolewski12
"Similarly, male carriers of the 32-bp deletion, which causes truncation of the protein, had significantly higher risk of diabetic nephropathy than noncarriers"
Genetics in Medicine (2004) 6, 126–131; doi:10.1097/01.GIM.0000127274.45301.54
Association of CCR5 Δ32 deletion with early death in multiple sclerosis
Radhika Gade-Andavolu1, David E Comings2, James MacMurray2, Masoud Rostamkhani2, Li S -C Cheng3, Wallace W Tourtellotte4 and Lawrence A Cone1,5
1Genetic Research Institute of the Desert, Eisenhower Medical Center, Rancho Mirage, California 2Department of Medical Genetics, City of Hope Medical Center, Duarte, California 3Department of Bio statistics, City of Hope Medical Center, Duarte, California 4Neurology & Research Services, VA, West Los Angeles Healthcare Center & Department of Neurology, UCLA, Los Angeles, California 5Sections of Immunology and Infectious Diseases, Eisenhower Medical Center, Rancho Mirage, California Correspondence: Dr. Lawrence A. Cone, >39000 Bob Hope Drive, Eisenhower Medical Center, Probst # 308, Genetic Research Institute of the Desert, Rancho Mirage, CA 92270.
Received 21 November 2003; Accepted 17 February 2004
Top of page Abstract Purpose: The interaction between chemokines and their receptors is extremely important in controlling T cell migration into sites of CNS inflammation. Because trafficking of inflammatory T cells into the central nervous system (CNS) is a key player in the pathogenesis of multiple sclerosis (MS), we investigated the possible association of CCR5 Δ32 deletion in this disorder.
Methods: DNA isolated from postmortem brain tissue samples of 132 patients with MS and from blood tissue samples of 163 gender and ethnicity-matched healthy controls was used to screen for the CCR5 Δ32 deletion allele.
Results: An increased frequency of 32-bp deletion allele was found to be associated with early death (P = 0.00005) and with a progressive reduction in the years of survival (onset to death). The death hazard ratio of CCR5 with deletion versus no deletion was 2.12, suggesting that MS patients with the 32-bp deletion have twice the mortality rate of patients with the normal genotype. This effect was more significant in females (hazard ratio 3.58).
Conclusion: A strong association of the CCR5 Δ32 deletion with early death could serve as a prognostic marker for MS.
Keywords: multiple sclerosis; polymerase chain reaction; chemokine receptor; experimental autoimmune encephalomyelitis
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"Does the CCR5-delta32 mutation have an entirely positive/protective role? Probably not. In patients with abdominal aortic aneurysm (AAA), the major risk is a sudden rupture - which is quite often fatal. Individuals with the delta 32 variant are more likely to have aneurysms than non-carriers, and among patients with aneurysms, delta 32 carriers are more likely to rupture than to be diagnosed in time for surgical repair. [PMID 15557916]"
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Association Between the CCR5 32-bp Deletion Allele and Late Onset of Schizophrenia Henrik Berg Rasmussen; Sally Timm; August G. Wang; Karen Søeby; Henrik Lublin; Mogens Fenger; Ralf Hemmingsen; Thomas Werge Am J Psychiatry 2006;163:507-511. 10.1176/appi.ajp.163.3.507
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1 of 2 Here's another: Association of CCR5 Δ32 deletion with early death in multiple sclerosis Radhika Gade-Andavolu1, David E Comings2, James MacMurray2, Masoud Rostamkhani2, Li S -C Cheng3, Wallace W Tourtellotte4 and Lawrence A Cone1,5 1Genetic Research Institute of the Desert, Eisenhower Medical Center, Rancho Mirage, California 2Department of Medical Genetics, City of Hope Medical Center, Duarte, California 3Department of Bio statistics, City of Hope Medical Center, Duarte, California
2 of 2 4Neurology & Research Services, VA, West Los Angeles Healthcare Center & Department of Neurology, UCLA, Los Angeles, California 5Sections of Immunology and Infectious Diseases, Eisenhower Medical Center, Rancho Mirage, California
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CCR5 Expression Influences the Progression of Human Breast Cancer in a p53-dependent Manner Santos Mañes 1 , Emilia Mira 1 , Ramón Colomer 2 , Sagrario Montero 2 , Luis M. Real 4 , Concepción Gómez-Moutón 1 , Sonia Jiménez-Baranda 1 , Alfredo Garzón 3 , Rosa Ana Lacalle 1 , Keith Harshman 1 , Agustín Ruíz 4 , and Carlos Martínez-A. 1 + Author Affiliations 1Department of Immunology and Oncology, Centro Nacional de Biotecnología, Universidad Autonoma de Madrid, E-28049 Madrid, Spain 2Medical Oncology, Hospital Universitario 12 de Octubre, E-28041 Madrid, Spain 3Pathology Department, Hospital Universitario 12 de Octubre, E-28041 Madrid, Spain 4Department of Structural Genomics, Neocodex, E-41020 Seville, Spain Address correspondence to Santos Mañes, Department of Immunology and Oncology, Centro Nacional de Biotecnología, Campus de Cantoblanco, Universidad Autonoma de Madrid, E-28049 Madrid, Spain. Phone: 34-91-585-4660; Fax: 34-91-372-0493; e-mail: smanes@cnb.uam.es ABSTRACT
Chemokines are implicated in tumor pathogenesis, although it is unclear whether they affect human cancer progression positively or negatively. We found that activation of the chemokine receptor CCR5 regulates p53 transcriptional activity in breast cancer cells through pertussis toxin–, JAK2-, and p38 mitogen–activated protein kinase–dependent mechanisms. CCR5 blockade significantly enhanced proliferation of xenografts from tumor cells bearing wild-type p53, but did not affect proliferation of tumor xenografts bearing a p53 mutation. In parallel, data obtained in a primary breast cancer clinical series showed that disease-free survival was shorter in individuals bearing the CCR5Δ32 allele than in CCR5 wild-type patients, but only for those whose tumors expressed wild-type p53. These findings suggest that CCR5 activity influences human breast cancer progression in a p53-dependent manner.
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Further, all the subjects (controls and patients) were divided in two groups on the basis of age and were termed as early onset (aged 0–49 years) and late onset (aged 50 onwards) patients. On analysing the frequency distribution of genotypes in early and late onset patients, distribution of genotypes in early and late onset groups was almost similar in healthy controls. On comparing the frequency distribution among early and late onset group, variation in the frequency of CCR5+/Δ32 genotype in early onset group was observed. In the patients having early onset of the disease the frequency distribution of CCR5+/Δ32 genotype was 3.0% in control while it was 15.6% in GBC. This vast difference was statistically significant and was conferring extremely high risk for the disease (P = 0.006, OR = 6.24, CI = 1.6–13.0). At allele level also CCR5 Δ32 allele frequency was high in GBC patient with early onset of the disease when compared with controls of the same age group (10.0% and 1.5%). However, in the GBC patients having late onset of the disease, the frequency distribution of all the genotypes as well as alleles was almost similar in patient and control group and no significant disparity in the distribution pattern was observed (Table 5).
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