SNPs rs11240569, rs708727, and rs823156 in <i>SLC41A1</i> Do Not Discriminate Between Slovak Patients with Idiopathic Parkinson’s Disease and Healthy Controls: Statistics and Machine-Learning Evidence

Gene <i>SLC41A1</i> (<i>A1</i>) is localized within Parkinson&#8217;s disease-(PD)-susceptibility locus <i>PARK16</i> and encodes for the Na<sup>+</sup>/Mg<sup>2+</sup>-exchanger. The association of several <i>A1</i> SNPs wi...

Full description

Bibliographic Details
Main Authors: Michal Cibulka, Maria Brodnanova, Marian Grendar, Milan Grofik, Egon Kurca, Ivana Pilchova, Oto Osina, Zuzana Tatarkova, Dusan Dobrota, Martin Kolisek
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/20/19/4688
Description
Summary:Gene <i>SLC41A1</i> (<i>A1</i>) is localized within Parkinson&#8217;s disease-(PD)-susceptibility locus <i>PARK16</i> and encodes for the Na<sup>+</sup>/Mg<sup>2+</sup>-exchanger. The association of several <i>A1</i> SNPs with PD has been studied. Two, rs11240569 and rs823156, have been associated with reduced PD-susceptibility primarily in Asian populations. Here, we examined the association of rs11240569, rs708727, and rs823156 with PD in the Slovak population and their power to discriminate between PD patients and healthy controls. The study included 150 PD patients and 120 controls. Genotyping was performed with the TaqMan<sup>&#174;</sup> approach. Data were analyzed by conventional statistics and Random Forest machine-learning (ML) algorithm. Individually, none of the three SNPs is associated with an altered risk for PD-onset in Slovaks. However, a combination of genotypes of SNP-triplet GG<sub>(rs11240569)</sub>/AG<sub>(rs708727)</sub>/AA<sub>(rs823156)</sub> is significantly (<i>p</i> &lt; 0.05) more frequent in the PD (13.3%) than in the control (5%) cohort. ML identified the power of the tested SNPs in isolation or of their singlets (joined), duplets and triplets to discriminate between PD-patients and healthy controls as zero. Our data further substantiate differences between diverse populations regarding the association of <i>A1</i> polymorphisms with PD-susceptibility. Lack of power of the tested SNPs to discriminate between PD and healthy cases render their clinical/diagnostic relevance in the Slovak population negligible.
ISSN:1422-0067