Lack of association between <it>PRNP </it>1368 polymorphism and Alzheimer's disease or vascular dementia
<p>Abstract</p> <p>Background</p> <p>Polymorphisms of the prion protein gene (<it>PRNP</it>) at codons 129 and 219 play an important role in the susceptibility to Creutzfeldt-Jakob disease (CJD), and might be associated with other neurodegenerative disorders...
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2009-04-01T00:00:00Z.
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| 001 | doaj_2fabd02b80544b8b9250d2db0b9a6eb7 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Jeong Byung-Hoon |e author |
| 700 | 1 | 0 | |a Lee Kyung-Hee |e author |
| 700 | 1 | 0 | |a Lee Yun-Jung |e author |
| 700 | 1 | 0 | |a Kim Yun |e author |
| 700 | 1 | 0 | |a Choi Eun-Kyoung |e author |
| 700 | 1 | 0 | |a Kim Young-Hoon |e author |
| 700 | 1 | 0 | |a Cho Young-Sook |e author |
| 700 | 1 | 0 | |a Carp Richard I |e author |
| 700 | 1 | 0 | |a Kim Yong-Sun |e author |
| 245 | 0 | 0 | |a Lack of association between <it>PRNP </it>1368 polymorphism and Alzheimer's disease or vascular dementia |
| 260 | |b BMC, |c 2009-04-01T00:00:00Z. | ||
| 500 | |a 10.1186/1471-2350-10-32 | ||
| 500 | |a 1471-2350 | ||
| 520 | |a <p>Abstract</p> <p>Background</p> <p>Polymorphisms of the prion protein gene (<it>PRNP</it>) at codons 129 and 219 play an important role in the susceptibility to Creutzfeldt-Jakob disease (CJD), and might be associated with other neurodegenerative disorders. Several recent reports indicate that polymorphisms outside the coding region of <it>PRNP </it>modulate the expression of prion protein and are associated with sporadic CJD, although other studies failed to show an association. These reports involved the polymorphism <it>PRNP </it>1368 which is located upstream from <it>PRNP </it>exon 1. In a case-controlled protocol, we assessed the possible association between the <it>PRNP </it>1368 polymorphism and either Alzheimer's disease (AD) or vascular dementia (VaD).</p> <p>Methods</p> <p>To investigate whether the <it>PRNP </it>1368 polymorphism is associated with the occurrence of AD or VaD in the Korean population, we compared the genotype, allele, and haplotype frequencies of the <it>PRNP </it>1368 polymorphism in 152 AD patients and 192 VaD patients with frequencies in 268 healthy Koreans.</p> <p>Results and conclusion</p> <p>Significant differences in genotype, allele and haplotype frequencies of <it>PRNP </it>1368 polymorphism were not observed between AD and normal controls. There were no significant differences in the genotype and allele frequencies of the <it>PRNP </it>1368 polymorphism between Korean VaD patients and normal controls. However, in the haplotype analysis, haplotype Ht5 was significantly over-represented in Korean VaD patients. This was the first genetic association study of a polymorphism outside the coding region of <it>PRNP </it>in relation to AD and VaD.</p> | ||
| 546 | |a EN | ||
| 690 | |a Internal medicine | ||
| 690 | |a RC31-1245 | ||
| 690 | |a Genetics | ||
| 690 | |a QH426-470 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n BMC Medical Genetics, Vol 10, Iss 1, p 32 (2009) | |
| 787 | 0 | |n http://www.biomedcentral.com/1471-2350/10/32 | |
| 787 | 0 | |n https://doaj.org/toc/1471-2350 | |
| 856 | 4 | 1 | |u https://doaj.org/article/2fabd02b80544b8b9250d2db0b9a6eb7 |z Connect to this object online. |