RGD Reference Report - Angiotensin-converting enzyme and angiotensin II type 1 receptor gene polymorphisms in children with subacute sclerosing panencephalitis. - Rat Genome Database

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Angiotensin-converting enzyme and angiotensin II type 1 receptor gene polymorphisms in children with subacute sclerosing panencephalitis.

Authors: Taşdemir, Nebahat  Ece, Aydin  Tekeş, Selahattin  Dikici, Süber  Güneş, Ali  Balik, Hasan 
Citation: Taşdemir N, etal., Am J Med Genet B Neuropsychiatr Genet. 2006 Jul 5;141B(5):445-8. doi: 10.1002/ajmg.b.30343.
RGD ID: 40400901
Pubmed: (View Article at PubMed) PMID:16741935
DOI: Full-text: DOI:10.1002/ajmg.b.30343

Subacute sclerosing panencephalitis (SSPE) is a progressive, debilitating, and fatal brain disorder caused by mutant measles virus infection. Although both viral and host factors seem to be involved in SSPE, the exact pathogenesis remains to be determined. Autoimmune demyelination is characteristic of SSPE. The blood angiotensin-converting enzyme (ACE) activity and angiotensin II (Ang II) levels are associated with the ACE gene polymorphism. Proinflammatory effects of Ang II may contribute to the development of SSPE. The aim of this study was to investigate whether the ACE and Ang II type 1 receptor (AT1R) (A1166C) gene polymorphisms were associated with SSPE. The polymorphisms were investigated by polymerase chain reaction (PCR) in 43 patients with SSPE and 100 healthy controls. The genotype distribution of the SSPE children and healthy controls were as follows: DD 58.1% versus 34.0, ID 37.2% versus 48.0%, and II 4.7% versus 18.0, respectively (P = 0.012). Allele frequencies of patients and controls were D 76.7% versus 58.0%, and I 23.3% versus 42.0%, respectively (P = 0.004). The frequency of DD genotype and D allele were significantly higher in SSPE children compared with controls (P < 0.05). AT1R gene polymorphism distribution was found to be similar in SSPE children and control subjects: AA 55.8% versus 60.7%, AC 37.2% versus 32.1%, and CC 7.0% versus 7.2%, respectively (P > 0.05). In conclusion, the results of this study suggest that the DD genotype of ACE I/D polymorphism may be related to SSPE. Due to small size of this study, further studies with more patients are needed to confirm these results.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Ace  (angiotensin I converting enzyme)

Genes (Mus musculus)
Ace  (angiotensin I converting enzyme (peptidyl-dipeptidase A) 1)

Genes (Homo sapiens)
ACE  (angiotensin I converting enzyme)


Additional Information