caa a22 4500 46325449X CHVBK 20180405153350.0 cr unu---uuuuu 170326e20070501xx s 000 0 eng 10.1007/s10571-006-9126-9 doi (NATIONALLICENCE)springer-10.1007/s10571-006-9126-9 Do Haplogroups H and U Act to Increase the Penetrance of Alzheimer's Disease? [Elektronische Daten] [Farzaneh Fesahat, Massoud Houshmand, Mehdi Panahi, Kurosh Gharagozli, Farzaneh Mirzajani] : 1. Alzheimer's disease (AD) is the most common form of dementia in the elderly in which interplay between genes and the environment is supposed to be involved. Mitochondrial DNA (mtDNA) has the only noncoding regions at the displacement loop (D-loop) region that contains two hypervariable segments (HVS-I and HVS-II) with high polymorphism. mtDNA has already been fully sequenced and many subsequent publications have shown polymorphic sites, haplogroups, and haplotypes. Haplogroups could have important implications to understand the association between mutability of the mitochondrial genome and the disease. 2. To assess the relationship between mtDNA haplogroup and AD, we sequenced the mtDNA HVS-I in 30 AD patients and 100 control subjects. We could find that haplogroups H and U are significantly more abundant in AD patients (P=0.016 for haplogroup H and P=0.0003 for haplogroup U), Thus, these two haplogroups might act synergistically to increase the penetrance of AD disease. Springer Science+Business Media, LLC, 2006 mitochondrial DNA nationallicence haplogroup nationallicence Alzheimer's disease (AD) nationallicence Fesahat Farzaneh Khatam University, Tehran, Iran aut Houshmand Massoud Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran aut Panahi Mehdi Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran aut Gharagozli Kurosh Department of Neurology, Loghman Hospital, Tehran, Iran aut Mirzajani Farzaneh Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran aut Cellular and Molecular Neurobiology Kluwer Academic Publishers-Plenum Publishers; http://www.springer-ny.com 27/3(2007-05-01), 329-334 0272-4340 27:3<329 2007 27 10571 https://doi.org/10.1007/s10571-006-9126-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10571-006-9126-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Fesahat Farzaneh Khatam University, Tehran, Iran aut NATIONALLICENCE 700 1- Houshmand Massoud Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran aut NATIONALLICENCE 700 1- Panahi Mehdi Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran aut NATIONALLICENCE 700 1- Gharagozli Kurosh Department of Neurology, Loghman Hospital, Tehran, Iran aut NATIONALLICENCE 700 1- Mirzajani Farzaneh Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran aut NATIONALLICENCE 773 0- Cellular and Molecular Neurobiology Kluwer Academic Publishers-Plenum Publishers; http://www.springer-ny.com 27/3(2007-05-01), 329-334 0272-4340 27:3<329 2007 27 10571 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer