%0 Journal Article %1 proitsi2012alzheimersvariation. %A Proitsi, P %A Lupton, MK %A Dudbridge, F %A Tsolaki, M %A Hamilton, G %A Daniilidou, M %A Pritchard, M %A Lord, K %A Martin, BM %A Johnson, J %A Craig, D %A Todd, S %A McGuinness, B %A Hollingworth, P %A Harold, D %A Kloszewska, I %A Soininen, H %A Mecocci, P %A Velas, B %A Gill, M %A Lawlor, B %A Rubinsztein, DC %A Brayne, C %A Passmore, PA %A Williams, J %A Lovestone, S %A Powell, JF %C King's College London, Institute of Psychiatry, De Crespigny Park, London, UK. petroula.proitsi@kcl.ac.uk %D 2012 %J Neurobiol Aging %K imported %N 8 %P 1843.e9--1843.17 %R 10.1016/j.neurobiolaging.2011.12.036 %T Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation. %U http://www.ncbi.nlm.nih.gov/pubmed/22300950 %V 33 %X Alzheimer's disease (AD) and age-related macular degeneration (AMD) are both neurodegenerative disorders which share common pathological and biochemical features of the complement pathway. The aim of this study was to investigate whether there is an association between well replicated AMD genetic risk factors and AD. A large cohort of AD (n = 3898) patients and controls were genotyped for single nucleotide polymorphisms (SNPs) in the complement factor H (CFH), the Age-related maculopathy susceptibility protein 2 (ARMS2) the complement component 2 (C2), the complement factor B (CFB), and the complement component 3 (C3) genes. While significant but modest associations were identified between the complement factor H, the age-related maculopathy susceptibility protein 2, and the complement component 3 single nucleotide polymorphisms and AD, these were different in direction or genetic model to that observed in AMD. In addition the multilocus genetic model that predicts around a half of the sibling risk for AMD does not predict risk for AD. Our study provides further support to the hypothesis that while activation of the alternative complement pathway is central to AMD pathogenesis, it is less involved in AD.

@article{proitsi2012alzheimersvariation., abstract = {Alzheimer's disease (AD) and age-related macular degeneration (AMD) are both neurodegenerative disorders which share common pathological and biochemical features of the complement pathway. The aim of this study was to investigate whether there is an association between well replicated AMD genetic risk factors and AD. A large cohort of AD (n = 3898) patients and controls were genotyped for single nucleotide polymorphisms (SNPs) in the complement factor H (CFH), the Age-related maculopathy susceptibility protein 2 (ARMS2) the complement component 2 (C2), the complement factor B (CFB), and the complement component 3 (C3) genes. While significant but modest associations were identified between the complement factor H, the age-related maculopathy susceptibility protein 2, and the complement component 3 single nucleotide polymorphisms and AD, these were different in direction or genetic model to that observed in AMD. In addition the multilocus genetic model that predicts around a half of the sibling risk for AMD does not predict risk for AD. Our study provides further support to the hypothesis that while activation of the alternative complement pathway is central to AMD pathogenesis, it is less involved in AD.}, added-at = {2013-08-12T12:53:15.000+0200}, address = {King's College London, Institute of Psychiatry, De Crespigny Park, London, UK. petroula.proitsi@kcl.ac.uk}, author = {Proitsi, P and Lupton, MK and Dudbridge, F and Tsolaki, M and Hamilton, G and Daniilidou, M and Pritchard, M and Lord, K and Martin, BM and Johnson, J and Craig, D and Todd, S and McGuinness, B and Hollingworth, P and Harold, D and Kloszewska, I and Soininen, H and Mecocci, P and Velas, B and Gill, M and Lawlor, B and Rubinsztein, DC and Brayne, C and Passmore, PA and Williams, J and Lovestone, S and Powell, JF}, biburl = {https://www.bibsonomy.org/bibtex/2b200459c05a06c2fd430422f4fe5b255/sokratesagogo}, doi = {10.1016/j.neurobiolaging.2011.12.036}, eissn = {1558-1497}, interhash = {51a320cf21c232cf980a0d23ad888e99}, intrahash = {b200459c05a06c2fd430422f4fe5b255}, journal = {Neurobiol Aging}, keyword = {Aged}, keywords = {imported}, language = {eng}, month = Aug, number = 8, organization = {United States}, pages = {1843.e9--1843.17}, pii = {S0197-4580(11)00581-1}, timestamp = {2013-08-12T12:53:47.000+0200}, title = {Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation.}, url = {http://www.ncbi.nlm.nih.gov/pubmed/22300950}, volume = 33, year = 2012 }