OBJECTIVE: We evaluated the association of several single-nucleotide polymorphisms in different genes including APOE, TOMM40, CR1, PVRL2, SORL1, PICALM, and GWA_14q32.13 in a Colombian sample of Late-Onset Alzheimer disease (LOAD) patients. METHODS: A case-control study was conducted in 362 individuals (181 LOADs and 181 controls) to determine the association of single-nucleotide polymorphisms in APOE (e2, e3, and e4), TOMM40 (rs2075650), CR1 (rs665640), PVRL2 (rs6859), SORL1 (rs11218304), PICALM (rs3851179), and GWA_14q32.13 (rs11622883) with LOAD in a sample from Colombia. RESULTS: We were able to confirm the previously reported association of the APOE4 allele with AD. In addition, we report a new significant association with rs2075650 of TOMM40 for LOAD in our sample. We did not detect any significant interaction between TOMM40 and APOE4 carriers (heterozygous or homozygous) for disease risk development. However, Kaplan-Meier survival analyses suggest that AD patients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele. In addition, the age of disease onset is earlier if APOE4/4 is present. CONCLUSION: Our findings suggest that rs2075650 of TOMM40 could be involved in earlier presentation of LOAD in the Colombian population.
OBJECTIVE: We evaluated the association of several single-nucleotide polymorphisms in different genes including APOE, TOMM40, CR1, PVRL2, SORL1, PICALM, and GWA_14q32.13 in a Colombian sample of Late-Onset Alzheimer disease (LOAD) patients. METHODS: A case-control study was conducted in 362 individuals (181 LOADs and 181 controls) to determine the association of single-nucleotide polymorphisms in APOE (e2, e3, and e4), TOMM40 (rs2075650), CR1 (rs665640), PVRL2 (rs6859), SORL1 (rs11218304), PICALM (rs3851179), and GWA_14q32.13 (rs11622883) with LOAD in a sample from Colombia. RESULTS: We were able to confirm the previously reported association of the APOE4 allele with AD. In addition, we report a new significant association with rs2075650 of TOMM40 for LOAD in our sample. We did not detect any significant interaction between TOMM40 and APOE4 carriers (heterozygous or homozygous) for disease risk development. However, Kaplan-Meier survival analyses suggest that ADpatients with TOMM40 allele rs2075650-G have an average age of disease onset of 6 years earlier compared with carriers of the A allele. In addition, the age of disease onset is earlier if APOE4/4 is present. CONCLUSION: Our findings suggest that rs2075650 of TOMM40 could be involved in earlier presentation of LOAD in the Colombian population.
Authors: Marat A Mukhamedyarov; Albert A Rizvanov; Eduard Z Yakupov; Andrey L Zefirov; Andrey P Kiyasov; Helton J Reis; Antônio L Teixeira; Luciene B Vieira; Luciana M Lima; Ilnur I Salafutdinov; Elena O Petukhova; Svetlana F Khaiboullina; Karen A Schlauch; Vincent C Lombardi; András Palotás Journal: J Alzheimers Dis Date: 2016-10-18 Impact factor: 4.472
Authors: Michal Prendecki; Jolanta Florczak-Wyspianska; Marta Kowalska; Jan Ilkowski; Teresa Grzelak; Katarzyna Bialas; Malgorzata Wiszniewska; Wojciech Kozubski; Jolanta Dorszewska Journal: Oncotarget Date: 2018-10-16
Authors: Jon Ondaro; Haizea Hernandez-Eguiazu; Maddi Garciandia-Arcelus; Raúl Loera-Valencia; Laura Rodriguez-Gómez; Andrés Jiménez-Zúñiga; Julen Goikolea; Patricia Rodriguez-Rodriguez; Javier Ruiz-Martinez; Fermín Moreno; Adolfo Lopez de Munain; Ian James Holt; Francisco Javier Gil-Bea; Gorka Gereñu Journal: Front Cell Dev Biol Date: 2022-03-28