Apolipoprotein E Pittsburgh variant is not associated with the risk of late-onset Alzheimer's disease in a Spanish population. Export

@article{citeulike:4529333, abstract = {The objective of this study was to assess whether the APOE(Pittsburgh) variant (APOE*4P) is associated to Alzheimer's disease (AD) in a population from Madrid (Spain). APOE*4P variant is caused by an exonic mutation which results in the substitution of proline-28 for leucine-28, only present in APOE*4 alleles. A study in a US population associated this APOE variant with an increased risk for AD, about five times higher than the risk attributed to APOE*4 carriers overall. One hundred and seventeen cases of late-onset AD and 121 matched control subjects from Madrid (Spain) were included. We studied the APOE polymorphism and the APOE*4P occurrence, by PCR and restriction analysis, and plasma lipids levels using standard protocols. As expected, APOE*4 was significantly overrepresented in AD cases. The APOE*4P mutation was observed in heterozygous state in four subjects, two AD (1.71\%) and two controls (1.65\%). APOE*4P did not confer higher risk for AD, globally (odds ratio 0.14; 95\% confidence interval (CI) 0.02-1.12) or respect to APOE*4 carriers (odds ratio 0.14; 95\% CI 0.02-1.24). There were no differences in plasma lipids levels among genotype groups. The mutation frequency in controls was higher in our sample than in the US one (1.65 and 0.18\%, respectively; Fisher test P = 0.049). Our results suggest that this variant is not so uncommon in our population and is not directly related to AD, contrary to what has been proposed for other populations.}, author = {Baron, M. and Jimenez-Escrig, A. and Orensanz, L. and Simon, J. and Perez-Tur, J.}, citeulike-article-id = {4529333}, citeulike-linkout-0 = {http://dx.doi.org/10.1002/ajmg.b.20028}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/12815750}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=12815750}, doi = {10.1002/ajmg.b.20028}, issn = {1552-4841}, journal = {American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}, keywords = {ad, apoe, humgen, lab, nssnps}, month = {July}, number = {1}, pages = {121--124}, posted-at = {2009-05-16 20:42:49}, priority = {2}, title = {Apolipoprotein E Pittsburgh variant is not associated with the risk of late-onset Alzheimer's disease in a Spanish population.}, url = {http://dx.doi.org/10.1002/ajmg.b.20028}, volume = {120B}, year = {2003} }

TY - JOUR ID - citeulike:4529333 L3 - citeulike-article-id:4529333 N2 - The objective of this study was to assess whether the APOE(Pittsburgh) variant (APOE*4P) is associated to Alzheimer's disease (AD) in a population from Madrid (Spain). APOE*4P variant is caused by an exonic mutation which results in the substitution of proline-28 for leucine-28, only present in APOE*4 alleles. A study in a US population associated this APOE variant with an increased risk for AD, about five times higher than the risk attributed to APOE*4 carriers overall. One hundred and seventeen cases of late-onset AD and 121 matched control subjects from Madrid (Spain) were included. We studied the APOE polymorphism and the APOE*4P occurrence, by PCR and restriction analysis, and plasma lipids levels using standard protocols. As expected, APOE*4 was significantly overrepresented in AD cases. The APOE*4P mutation was observed in heterozygous state in four subjects, two AD (1.71%) and two controls (1.65%). APOE*4P did not confer higher risk for AD, globally (odds ratio 0.14; 95% confidence interval (CI) 0.02-1.12) or respect to APOE*4 carriers (odds ratio 0.14; 95% CI 0.02-1.24). There were no differences in plasma lipids levels among genotype groups. The mutation frequency in controls was higher in our sample than in the US one (1.65 and 0.18%, respectively; Fisher test P = 0.049). Our results suggest that this variant is not so uncommon in our population and is not directly related to AD, contrary to what has been proposed for other populations. IS - 1 JF - American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics SN - 1552-4841 EP - 124 TI - Apolipoprotein E Pittsburgh variant is not associated with the risk of late-onset Alzheimer's disease in a Spanish population. VL - 120B SP - 121 KW - ad KW - apoe KW - humgen KW - lab KW - nssnps AU - Baron, M AU - Jimenez-Escrig, A AU - Orensanz, L AU - Simon, J AU - Perez-Tur, J PY - 2003/07/01/ UR - http://dx.doi.org/10.1002/ajmg.b.20028 ER -