OBJECTIVE: To verify the association between APOE gene promoter polymorphisms and the development of AD and to determine whether the effect of promoter polymorphisms on AD is independent of the APOE epsilon4 allele. BACKGROUND: Three polymorphisms in the APOE promoter have been shown to modify APOE expression in vitro. Several studies have suggested that these polymorphisms may also modulate risk for AD, either independently or by modifying the effect of the APOE coding polymorphism. METHODS: The authors analyzed allele and genotype distributions for APOE and all three known APOE promoter polymorphisms (-491 A/T, -427 T/C, and -219 G/T) in a study group consisting of 237 subjects with AD and 274 age-matched controls. They then used log-linear and logistic regression analyses to test for possible interactions between APOE genotype and the promoter polymorphisms on risk of AD. CONCLUSION: A strong association between the APOE epsilon 4 allele and AD was detected regardless of promoter polymorphism status. In addition, the -491 AA genotype appears to be an independent genetic risk factor for AD. The -427 T/C polymorphism and the -219 T/G polymorphism were not directly associated with AD.
OBJECTIVE: To verify the association between APOE gene promoter polymorphisms and the development of AD and to determine whether the effect of promoter polymorphisms on AD is independent of the APOE epsilon4 allele. BACKGROUND: Three polymorphisms in the APOE promoter have been shown to modify APOE expression in vitro. Several studies have suggested that these polymorphisms may also modulate risk for AD, either independently or by modifying the effect of the APOE coding polymorphism. METHODS: The authors analyzed allele and genotype distributions for APOE and all three known APOE promoter polymorphisms (-491 A/T, -427 T/C, and -219 G/T) in a study group consisting of 237 subjects with AD and 274 age-matched controls. They then used log-linear and logistic regression analyses to test for possible interactions between APOE genotype and the promoter polymorphisms on risk of AD. CONCLUSION: A strong association between the APOE epsilon 4 allele and AD was detected regardless of promoter polymorphism status. In addition, the -491 AA genotype appears to be an independent genetic risk factor for AD. The -427 T/C polymorphism and the -219 T/G polymorphism were not directly associated with AD.
Authors: Chang-En Yu; Howard Seltman; Elaine R Peskind; Nichole Galloway; Peter X Zhou; Elisabeth Rosenthal; Ellen M Wijsman; Debby W Tsuang; Bernie Devlin; Gerard D Schellenberg Journal: Genomics Date: 2007-04-16 Impact factor: 5.736
Authors: Anna Juhász; András Palotás; Zoltán Janka; Agnes Rimanóczy; Miklós Palotás; Nikoletta Bódi; Krisztina Boda; Marianna Zana; Gábor Vincze; János Kálmán Journal: Neurochem Res Date: 2005-05 Impact factor: 3.996
Authors: Kristin K Nicodemus; Judith E Stenger; Donald E Schmechel; Kathleen A Welsh-Bohmer; Ann M Saunders; Allen D Roses; John R Gilbert; Jeffery M Vance; Jonathan L Haines; Margaret A Pericak-Vance; Eden R Martin Journal: Neurogenetics Date: 2004-09-29 Impact factor: 2.660
Authors: Charles W Hogue; Robert Fucetola; Tamara Hershey; Kenneth Freedland; Victor G Dávila-Román; Alison M Goate; Richard E Thompson Journal: Ann Thorac Surg Date: 2008-08 Impact factor: 4.330