{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T06:59:57Z","timestamp":1787295597484,"version":"build-2736575974"},"reference-count":57,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T00:00:00Z","timestamp":1643414400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005357","name":"Slovak Research and Development Agency","doi-asserted-by":"publisher","award":["APVV-19-0222"],"award-info":[{"award-number":["APVV-19-0222"]}],"id":[{"id":"10.13039\/501100005357","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research Grant Agency of the Ministry of Education, Science, Research and Sport of the Slovak Republic and the Slovak Academy of Sciences","award":["VEGA 1\/0554\/19"],"award-info":[{"award-number":["VEGA 1\/0554\/19"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>SLC41A1 (A1) SNPs rs11240569 and rs823156 are associated with altered risk for Parkinson\u2019s disease (PD), predominantly in Asian populations, and rs708727 has been linked to Alzheimer\u2019s disease (AD). In this study, we have examined a potential association of the three aforementioned SNPs and of rs9438393, rs56152218, and rs61822602 (all three lying in the A1 promoter region) with PD in the Slovak population. Out of the six tested SNPs, we have identified only rs708727 as being associated with an increased risk for PD onset in Slovaks. The minor allele (A) in rs708727 is associated with PD in dominant and completely over-dominant genetic models (ORD = 1.36 (1.05\u20131.77), p = 0.02, and ORCOD = 1.34 (1.04\u20131.72), p = 0.02). Furthermore, the genotypic triplet GG(rs708727) + AG(rs823156) + CC(rs61822602) might be clinically relevant despite showing a medium (h \u2265 0.5) size difference (h = 0.522) between the PD and the control populations. RandomForest modeling has identified the power of the tested SNPs for discriminating between PD-patients and the controls to be essentially zero. The identified association of rs708727 with PD in the Slovak population leads us to hypothesize that this A1 polymorphism, which is involved in the epigenetic regulation of the expression of the AD-linked gene PM20D1, is also involved in the pathoetiology of PD (or universally in neurodegeneration) through the same or similar mechanism as in AD.<\/jats:p>","DOI":"10.3390\/ijms23031604","type":"journal-article","created":{"date-parts":[[2022,1,29]],"date-time":"2022-01-29T23:02:06Z","timestamp":1643497326000},"page":"1604","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Alzheimer\u2019s Disease-Associated SNP rs708727 in SLC41A1 May Increase Risk for Parkinson\u2019s Disease: Report from Enlarged Slovak Study"],"prefix":"10.3390","volume":"23","author":[{"given":"Michal","family":"Cibulka","sequence":"first","affiliation":[{"name":"Biomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, 03601 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Brodnanova","sequence":"additional","affiliation":[{"name":"Biomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, 03601 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marian","family":"Grendar","sequence":"additional","affiliation":[{"name":"Biomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, 03601 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4626-9588","authenticated-orcid":false,"given":"Jan","family":"Necpal","sequence":"additional","affiliation":[{"name":"Clinic of Neurology, AGEL Hospital in Zvolen, 96001 Zvolen, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Benetin","sequence":"additional","affiliation":[{"name":"Clinic of Neurology, University Hospital Bratislava, Slovak Medical University in Bratislava, 83303 Bratislva, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Han","sequence":"additional","affiliation":[{"name":"Clinic of Neurology, University Hospital of L. Pasteur in Kosice, University of Pavol Jozef Safarik, 04066 Kosice, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Egon","family":"Kurca","sequence":"additional","affiliation":[{"name":"Clinic of Neurology, University Hospital Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, 03601 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Nosal","sequence":"additional","affiliation":[{"name":"Clinic of Neurology, University Hospital Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, 03601 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matej","family":"Skorvanek","sequence":"additional","affiliation":[{"name":"Clinic of Neurology, University Hospital of L. Pasteur in Kosice, University of Pavol Jozef Safarik, 04066 Kosice, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Branislav","family":"Vesely","sequence":"additional","affiliation":[{"name":"Clinic of Neurology, Faculty Hospital in Nitra, Constantine the Philosopher University in Nitra, 94901 Nitra, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Stanclova","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology and Genomics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, 03601 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zora","family":"Lasabova","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology and Genomics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, 03601 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6572-4809","authenticated-orcid":false,"given":"Zuzana","family":"P\u00f6s","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Natural Sciences, Comenius University in Bratislava, 84104 Bratislava, Slovakia"},{"name":"GENETON s.r.o., 84104 Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Szemes","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Natural Sciences, Comenius University in Bratislava, 84104 Bratislava, Slovakia"},{"name":"GENETON s.r.o., 84104 Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9510-4061","authenticated-orcid":false,"given":"Stanislav","family":"Stuchlik","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Faculty of Natural Sciences, Comenius University in Bratislava, 84104 Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Grofik","sequence":"additional","affiliation":[{"name":"Clinic of Neurology, University Hospital Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, 03601 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kolisek","sequence":"additional","affiliation":[{"name":"Biomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, 03601 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,1,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Tatarkova, Z., de Baaij, J.H.F., Grendar, M., Aschenbach, J.R., Racay, P., Bos, C., Sponder, G., Hoenderop, J.G.J., R\u00f6ntgen, M., and Turcanova Koprusakova, M. 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