{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T01:01:00Z","timestamp":1791594060994,"version":"4.3.4"},"reference-count":35,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T00:00:00Z","timestamp":1486425600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Alzheimer\u2019s Disease"],"published-print":{"date-parts":[[2017,2,20]]},"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    A functional polymorphism in the methylenetetrahydrofolate reductase (\n                    <jats:italic>MTHFR<\/jats:italic>\n                    ) gene, namely C677T (rs1801133), results in increased Hcy levels and has been associated with risk of late-onset Alzheimer\u2019s disease (LOAD). Many investigators reported association between rs1801133 and LOAD risk in Asian populations and in carriers of the apolipoprotein E (\n                    <jats:italic>APOE<\/jats:italic>\n                    )\n                    <jats:italic>\u025b<\/jats:italic>\n                    4 allele, but recent meta-analyses suggest a contribution also in other populations, including Caucasians and\/or northern Africans.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Objective:<\/jats:bold>\n                    To further address this issue, we performed a relatively large case-control study, including 581 LOAD patients and 468 matched controls of Italian origin.\n                    <jats:italic>APOE<\/jats:italic>\n                    data were available for a subgroup of almost 600 subjects.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    Genotyping for rs1801133 was performed with PCR-RFLP techniques.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    In the total population, the\n                    <jats:italic>MTHFR<\/jats:italic>\n                    677T allele (OR\u200a=\u200a1.20; 95% CI\u200a=\u200a1.01\u20131.43) and carriers of the\n                    <jats:italic>MTHFR<\/jats:italic>\n                    677T allele (CT+TT versus CC: OR\u200a=\u200a1.34; 95% CI\u200a=\u200a1.03\u20131.73) resulted in increased LOAD risk. Similarly, in\n                    <jats:italic>APOE<\/jats:italic>\n                    <jats:italic>\u025b<\/jats:italic>\n                    4 carriers, we observed an increased frequency of\n                    <jats:italic>MTHFR<\/jats:italic>\n                    677CT carriers (CT versus CC: OR\u200a=\u200a2.82; 95% CI\u200a=\u200a1.25\u20136.32). Very interestingly, also in non-\n                    <jats:italic>APOE<\/jats:italic>\n                    <jats:italic>\u025b<\/jats:italic>\n                    4 carriers, both\n                    <jats:italic>MTHFR<\/jats:italic>\n                    677T allele (OR\u200a=\u200a1.38; 95% CI\u200a=\u200a1.03\u20131.85) and\n                    <jats:italic>MTHFR<\/jats:italic>\n                    677TT genotype (OR\u200a=\u200a2.08; 95% CI\u200a=\u200a1.11\u20133.90) were associated with LOAD. All these associations survived after corrections for age, gender, and multiple testing.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    The present results suggest that the\n                    <jats:italic>MTHFR<\/jats:italic>\n                    C677T polymorphism is likely a LOAD risk factor in our cohort, either in\n                    <jats:italic>APOE<\/jats:italic>\n                    <jats:italic>\u025b<\/jats:italic>\n                    4 or in non-\n                    <jats:italic>APOE<\/jats:italic>\n                    <jats:italic>\u025b<\/jats:italic>\n                    4 carriers.\n                  <\/jats:p>","DOI":"10.3233\/jad-161081","type":"journal-article","created":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T10:41:23Z","timestamp":1486464083000},"page":"1451-1457","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":25,"title":["The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer\u2019s disease: Further Evidence in an Italian Multicenter Study"],"prefix":"10.1177","volume":"56","author":[{"given":"Andrea","family":"Stoccoro","sequence":"first","affiliation":[{"name":"Department of Translational Research and New Technologies in Medicine and Surgery, Section of Medical Genetics, University of Pisa, Pisa, Italy"},{"name":"Doctoral School in Genetics Oncology and Clinical Medicine, University of Siena, Siena, 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