Association of complement factor H Y402H gene polymorphism with Alzheimers diseasePlease cite this article as follows: Zetterberg M, Landgren S, Andersson ME, Palmér MS, Gustafson DR, Skoog I, Minthon L, Thelle DS, Wallin A, Bogdanovic N, Andreasen N, Blennow K, Zetterberg H. 2007. Association of Complement Factor H Y402H Gene Polymorphism With Alzheimers Disease. Am J Med Genet Part B 147B:720–726.

Autor: Zetterberg, Madeleine, Landgren, Sara, Andersson, Malin E., Palmér, Mona Seibt, Gustafson, Deborah R., Skoog, Ingmar, Minthon, Lennart, Thelle, Dag S., Wallin, Anders, Bogdanovic, Nenad, Andreasen, Niels, Blennow, Kaj, Zetterberg, Henrik
Zdroj: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics; September 2008, Vol. 147 Issue: 6 p720-726, 7p
Abstrakt: Alzheimers disease AD and agerelated macular degeneration AMD share several epidemiological and biochemical features. The present study aimed to assess the possible influence of the AMDassociated complement factor H CFH Y402H 1277T > C polymorphism on the risk of AD. Caucasian subjects n  800 meeting the criteria for probable n  717 or definite n  83 AD and Caucasian nondemented controls n  1265 were included in this multicenter casecontrol study, in which genotype and allele frequencies of the CFH1277T > C polymorphism were determined and related to diagnosis, APOEgenotype, MiniMental State Examination score MMSE and the cerebrospinal fluid CSF biomarkers totaltau Ttau, phosphotau181Ptau181, and βamyloid1–42Aβ1–42. The AMDassociated CFHgenotypes 1277CC and 1277TC were overrepresented in subjects with AD as compared to control individuals P  0.029. Positive C carrier status was associated with an odds ratio OR for AD of 1.24 95 confidence interval CI 1.02–1.50. When APOE4 carrier status was included in the regression model, this association was even stronger OR 1.34, 95 CI: 1.08–1.65, P  0.007. Subgroup analysis showed that the association between CFHC allele positivity and AD was only evident for individuals carrying the APOE4 allele. Positive C carrier status was also associated with lower levels of CSF Aβ1–42selectively in the control group in an APOE4independent manner P  0.003. In conclusion, the CFH1277T > C polymorphism seems to influence the risk of AD and there appears to be an interaction between CFH1277C and APOE4 alleles. The CFH1277C allele may predispose patients for comorbidity in AD and AMD. © 2007 WileyLiss, Inc.
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