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Angiotensin‐converting enzyme and angiotensin II type 1 receptor gene polymorphisms in children with subacute sclerosing panencephalitis
Author(s) -
Taşdemir Nebahat,
Ece Aydın,
Tekeş Selahattin,
Dikici Süber,
Güneş Ali,
Balık Hasan
Publication year - 2006
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30343
Subject(s) - subacute sclerosing panencephalitis , genotype , angiotensin converting enzyme , angiotensin ii , measles virus , pathogenesis , allele , medicine , immunology , gene polymorphism , receptor , gene , biology , genetics , measles , vaccination , blood pressure
Abstract 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. © 2006 Wiley‐Liss, Inc.