The A431E mutation in PSEN1 causing Familial Alzheimer's Disease originating in Jalisco State, Mexico: An additional fifteen families

Abstract

Immunologic and inflammatory processes are involved in the pathogenesis of acute coronary syndrome (ACS) and type 2 diabetes mellitus (DM2). Human leukocyte antigen-G (HLA-G) is a negative regulator of the immune response. This study evaluates the 14 bp Del/Ins HLA-G polymorphism in ACS and DM2. Three hundred and seventy individuals from Western Mexico were recruited and categorized into three groups: ACS (86), DM2 without coronary complications (70), and healthy subjects (214). Genotyping of the 14 bp Del/Ins HLA-G polymorphism was performed by PCR and Native-PAGE. The most common risk factors were hypertension and overweight in ACS and DM2, respectively. The genetic distribution of the 14 bp Del/Ins HLA-G polymorphism showed no significant differences between groups (P ? 0.23). Nonetheless, the Ins/Ins genotype was associated with high blood pressure (HBP) in the DM2 group (OR c = 1.65, P = 0.02). The genetic recessive model showed similar findings (OR c = 3.03, P = 0.04). No association was found in ACS, with a P of 0.05; nevertheless, the prevalence of Ins/Ins carriers was quite similar to that found in the DM2-HBP group. The 14 bp Del/Ins HLA-G polymorphism was not a susceptibility factor for ACS or DM2; however, the Ins/Ins genotype might have contributed to the development of HBP in the studied groups. " 2014 Ilian Janet García-González et al.",,,,,,"10.1155/2014/898159",,,"http://hdl.handle.net/20.500.12104/45016","http://www.scopus.com/inward/record.url?eid=2-s2.0-84896873133&partnerID=40&md5=1030a197b7894a2fa74b129b6c6601f6

http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=medl&AN=24689061",,,,,,,,"BioMed Research International",,,,"2014",,"Scopus

WOS

MEDLINE",,,,"Index Medicus;Acute Coronary Syndrome/ge [Genetics];Aged;Base Pairing/ge [Genetics];Case-Control Studies;Demography;Diabetes Mellitus, Type 2/ge [Genetics];Female;Gene Frequency/ge [Genetics];Genetic Association Studies;Genetic Predisposition to Disease;HLA-G Antigens/ge [Genetics];Humans;Hypertension/ge [Genetics];INDEL Mutation/ge [Genetics];Male;Models, Genetic",,,,,,,,"The 14 bp Del/Ins HLA-G polymorphism is related with high blood pressure in acute coronary syndrome and type 2 diabetes mellitus",,"Article" "46787","123456789/35008",,"Aguilar-Lopez, L.B., Servicio de Hematología, UMAE-Hospital de Especialidades, CMNO, Guadalajara, Jalisco, Mexico; Delgado-Lamas, J.L., Servicio de Hematología, UMAE-Hospital de Especialidades, CMNO, Guadalajara, Jalisco, Mexico; Rubio-Jurado, B., Servicio de Hematología, UMAE-Hospital de Especialidades, CMNO, Guadalajara, Jalisco, Mexico; Javier Perea, F., División de Genética, Centro de Investigación Biomédica de Occidente, CMNO, Guadalajara, Jalisco, Mexico, Doctorado en Genética Humana, Universidad de Guadalajara, Guadalajara, Mexico; Ibarra, B., División de Genética, Centro de Investigación Biomédica de Occidente, CMNO, Guadalajara, Jalisco, Mexico, Doctorado en Genética Humana, Universidad de Guadalajara, Guadalajara, Mexico",,"Aguilar-Lopez, L.B.

Delgado-Lamas, J.L.

Rubio-Jurado, B.

Javier Perea, F.

Ibarra, B.",,"2008",,"[No abstract available]",,,,,,"10.1016/j.bcmd.2008.03.001",,,"http://hdl.handle.net/20.500.12104/45008","http://www.scopus.com/inward/record.url?eid=2-s2.0-44449129320&partnerID=40&md5=b8237ed45e755b2d68ccf58abc44af52",,,,,,"1",,"Blood Cells, Molecules, and Diseases",,"136

137",,"41",,"Scopus",,,,,,,,,,,,"Thalidomide therapy in a patient with thalassemia major",,"Letter" "46803","123456789/35008",,"Murrell, J., Department of Pathology and Laboratory Medicine, University of Indiana Medical School, MS A128, 635 Barnhill Drive, Indianapolis, IN 46202-5126, United States; Ghetti, B., Department of Pathology and Laboratory Medicine, University of Indiana Medical School, MS A128, 635 Barnhill Drive, Indianapolis, IN 46202-5126, United States; Cochran, E., Departments of Pathology and Neurological Sciences, Rush-Presbyterian-St. Luke's Medical Center, Chicago, IL, United States; Macias-Islas, M.A., Neurosciences Department, CUCS, University of Guadalajara, Beethoven 5216-1, Zapopan, Jalisco, C.P. 45030, Mexico; Medina, L., UCLA Department of Neurology, Alzheimer's Disease Research Center, 710 Westwood Plaza, Los Angeles, CA 90095-1769, United States; Varpetian, A., Department of Neurology, Keck School of Medicine, University of Southern California, 7601 Imperial Hwy, Downey, CA 90242-3456, United States; Cummings, J.L., UCLA Department of Neurology, Alzheimer's Disease Research Center, 710 Westwood Plaza, Los Angeles, CA 90095-1769, United States, Psychiatry and Biobehavioral Science, University of California, C8-827 NPI, 175919, Los Angeles, CA 90095, United States; Mendez, M.F., UCLA Department of Neurology, Alzheimer's Disease Research Center, 710 Westwood Plaza, Los Angeles, CA 90095-1769, United States; Kawas, C., Departments of Neurology, Neurobiology and Behavior, University of California, Irvine, Gillespie Neuroscience Research Facility, Irvine, CA 92697-4540, United States; Chui, H., Department of Neurology, Keck School of Medicine, University of Southern California, 7601 Imperial Hwy, Downey, CA 90242-3456, United States; Ringman, J.M., UCLA Department of Neurology, Alzheimer's Disease Research Center, 710 Westwood Plaza, Los Angeles, CA 90095-1769, United States",,"Murrell, J.

Ghetti, B.

Cochran, E.

Macias-Islas, M.A.

Medina, L.

Varpetian, A.

Cummings, J.L.

Mendez, M.F.

Kawas, C.

Chui, H.

Ringman, J.M.",,"2006",,"Nine families with autosomal dominant Alzheimer's disease (AD), all of whom had the Ala431Glu substitution in the PSEN1 gene and came from Jalisco State in Mexico, have been previously reported. As they shared highly polymorphic flanking dinucleotide marker alleles, this strongly suggests that this mutation arose from a common founder. In the current letter, we expand this observation by describing an additional 15 independent families with the Ala431Glu substitution in the PSEN1 gene and conclude that this mutation is not an uncommon cause of early-onset autosomal dominant AD in persons of Mexican origin. " Springer-Verlag 2006.