Abstract:
:Three functional polymorphisms described in the promoter of receptor for advanced glycation end products (RAGE) gene were shown to have a marked effect on transcriptional activity. The few studies which analyzed the relationship between these three polymorphisms and the diabetic complications have shown conflicting results. In this case-control study, we evaluated the association between the -429T>C, the -374T>A and the 63bp insertion/deletion (I/D) polymorphisms in the RAGE gene, and the presence of diabetic retinopathy, diabetic nephropathy and ischemic heart disease, in 703 Brazilians with type 2 diabetes (520 Caucasian- and 183 African-Brazilians). Patients underwent a clinical and laboratory evaluation consisting of a questionnaire, physical examination, assessment of diabetic complications and blood collection. Genotype analysis was performed using the polymerase chain reaction and allele-specific restriction. Logistic regression analyses were used to examine associations between the clinical and genetic variables and the presence of diabetic complications. No association between the -429C, the -374A and the 63bp D alleles and diabetic retinopathy, diabetic nephropathy or ischemic heart disease was observed in Caucasian-Brazilians with type 2 diabetes. However, the -374A allele was associated with a decreased risk of having ischemic heart disease in African-Brazilian type 2 diabetic patients [odds ratio (OR)=0.35; 95% confidence interval (CI)=0.15-0.81; P=0.014], independently of other risk factors associated with this complication. Thus, our results show that the -374A allele (-374T>A polymorphism) in the RAGE gene is related to the susceptibility of developing ischemic heart disease in African-Brazilians with type 2 diabetes.
journal_name
Mol Genet Metabjournal_title
Molecular genetics and metabolismauthors
dos Santos KG,Canani LH,Gross JL,Tschiedel B,Pires Souto KE,Roisenberg Idoi
10.1016/j.ymgme.2005.02.010subject
Has Abstractpub_date
2005-06-01 00:00:00pages
149-56issue
2eissn
1096-7192issn
1096-7206pii
S1096-7192(05)00077-6journal_volume
85pub_type
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pub_type: 杂志文章
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pub_type: 临床试验,杂志文章
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doi:10.1006/mgme.2000.2991
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doi:10.1006/mgme.2001.3168
更新日期:2001-05-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章,评审
doi:10.1006/mgme.1998.2729
更新日期:1998-10-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ymgme.2006.07.012
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pub_type: 杂志文章
doi:10.1016/j.ymgme.2007.11.007
更新日期:2008-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ymgme.2011.03.006
更新日期:2011-07-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2020-05-01 00:00:00
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doi:10.1016/j.ymgme.2018.01.005
更新日期:2018-03-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ymgme.2012.09.006
更新日期:2012-11-01 00:00:00
abstract::Pompe Disease (PD) is a lysosomal storage disease caused by acid α-glucosidase deficiency. The infantile form typically results in death in the first year of life. Patient survival has improved with enzyme replacement therapy (ERT), but new complications are being recognized. We report three cases of infantile onset P...
journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2012.11.013
更新日期:2013-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 临床试验,杂志文章
doi:10.1016/j.ymgme.2014.02.007
更新日期:2014-05-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2006.12.010
更新日期:2007-04-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2014.05.007
更新日期:2014-09-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1006/mgme.1999.2813
更新日期:1999-05-01 00:00:00