Lrrk2 R1628P variant is a risk factor for essential tremor

Scientific Reports
Yin Xia ChaoEng-King Tan

Abstract

Essential tremor (ET) and Parkinson's disease (PD) are two of the most common adult onset movement disorders with overlapping clinical features. PD patients with leucine-rich repeat kinase-2 (LRRK2) mutations may present initially with an ET phenotype. To address the possibility of a common genetic link between ET and PD, we examined the association between a common LRRK2 R1628P gene variant and ET. The LRRK2 R1628P was genotyped in ET cases and matched healthy controls. A total of 1277 subjects comprising of 450 ET cases and 827 controls were included. There were 40 heterozygote (GG to CG) variant out of 450 ET cases (genotypic frequency 8.9%) and 36 heterozygote variant (GG to CG, genotypic frequency 4.3%) and one homozygote variant (GG to CC) out of 827 controls. Subjects carrying the R1628P variant had a twofold increased risk of ET (p = 0.0035, OR = 2.20 and 95% confidence interval is 1.30-3.73). Using a case control methodology, we demonstrated an association between a known PD risk variant, LRRK2 R1628P, with ET. Subjects carrying the R1628P variant had twice the risk of developing ET. The sharing of a similar gene risk variant suggests a possible pathophysiologic link between PD and ET.

References

Apr 3, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Eng-King TanSau-Ying Lum
Apr 17, 2008·Annals of Neurology·Owen A RossRuey-Meei Wu
Apr 7, 2010·Neurogenetics·Carles Vilariño-GüellMatthew J Farrer
Feb 3, 2011·Human Genetics·Yi-Wen WuEng-King Tan
Nov 23, 2013·Parkinsonism & Related Disorders·Elan D Louis

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Citations

Sep 29, 2015·Parkinsonism & Related Disorders·Murni Tio, Eng-King Tan
May 6, 2016·Acta Neurologica Scandinavica·H ChenH Deng
Jul 17, 2019·Proceedings of the National Academy of Sciences of the United States of America·Vinicius M FavaErwin Schurr
May 31, 2018·Genetic Testing and Molecular Biomarkers·Han ChenHao Deng
Mar 30, 2018·Scientific Reports·Adeline S L NgEng-King Tan
Aug 11, 2020·Tremor and Other Hyperkinetic Movements·Vasileios SiokasEfthimios Dardiotis
Sep 27, 2018·Brain and Behavior·Lamei YuanHao Deng
Jan 27, 2021·International Journal of Molecular Sciences·Vinita G Chittoor-VinodBirgitt Schüle
Jun 3, 2021·Pharmaceuticals·Félix Javier Jiménez-JiménezJosé A G Agúndez

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Methods Mentioned

BETA
genotyping

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