Specific APO E genotypes in combination with the ACE D/D or MTHFR 677TT mutation yield an independent genetic risk of leukoaraiosis

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Abstract:

Szolnoki Z, Somogyvári F, Kondacs A, Szabó M, Fodor L, Bene J, Melegh B. Specific APO E genotypes in combination with the ACE D/D or MTHFR 677TT mutation yield an independent genetic risk of leukoaraiosis.

Acta Neurol Scand 2003 DOI: 10.1046/j.1600-0404.2003.00218.x © Blackwell Munksgaard 2003. Objective –

Ischaemic demyelination of the white matter of the brain is a frequent clinical entity. In the neuroimaging terms, it is referred to as leukoaraiosis. We earlier found that the co-occurrence of the homozygous methylenetetrahydrofolate reductase (MTHFR) 677TT and angiotensin-converting enzyme D/D (ACE D/D) genotypes yielded a highly significant moderate risk of leukoaraiosis. On the assumption of further genetic interactions, we have now investigated whether the different apolipoprotein E (APO E) genotypes, in pairwise combinations with the MTHFR 677TT or ACE D/D mutation, could lead to an increased risk of leukoaraiosis. Material and methods –

We analysed the occurrence of the APO E genotypes in pairwise combinations with the MTHFR 677TT or ACE D/D mutation in 315 consecutive Caucasian patients with leukoaraiosis. A total of 646 neuroimaging-free subjects acted as a control group. Results –

The APO E 2/2 and 2/3 or APO E 4/4 and 4/3 genotypes in combination with the MTHFR 677TT or ACE D/D mutation exhibited independent genetic risks of leukoaraiosis. Conclusion –

The interactions of certain unfavourable genetic mutations can contribute to the evolution of leukoaraiosis.

Keywords: genetic interaction; genetics; leukoaraiosis; risk factors

Document Type: Research Article

DOI: http://dx.doi.org/10.1046/j.1600-0404.2003.00218.x

Affiliations: 1: Department of Neurology and Neurophysiology 2: Central Laboratory, Pándy Kálmán County Hospital, Gyula, Hungary

Publication date: March 1, 2004

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