Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: A replication study in a Taiwanese cohort

Yah Huei Wu-Chou; Ying Ting Chen; Tu Hsueh Yeh; Hsiu Chen Chang; Yi Hsin Weng; Szu Chia Lai; Chia Ling Huang; Rou Shayn Chen; Ying Zu Huang; Chiung Chu Chen; June Hung; Wen Li Chuang; Wey Yil Lin; Chien Hsiun Chen; Chin Song Lu

doi:10.1016/j.parkreldis.2012.10.019

Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: A replication study in a Taiwanese cohort

Yah Huei Wu-Chou, Ying Ting Chen, Tu Hsueh Yeh, Hsiu Chen Chang, Yi Hsin Weng, Szu Chia Lai, Chia Ling Huang, Rou Shayn Chen, Ying Zu Huang, Chiung Chu Chen, June Hung, Wen Li Chuang, Wey Yil Lin, Chien Hsiun Chen, Chin Song Lu

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Abstract

Background: Parkinson's disease (PD) is one of the most prevalent age-related neurodegenerative diseases and usually refers to a complex disorder with multiple genetic and environmental factors influencing disease risk. We here performed a gene-based case-control association study to scrutinize whether genetic variants in SNCA and LRRK2 genes could predispose to sporadic, late-onset form of PD in Taiwanese population. Methods: 17 Single Nucleotide Polymorphisms (SNPs) markers located within SNCA gene as well as the 16 SNP markers within LRRK2 gene were chosen for genotyping and evaluated their haplotype structure in a cohort of sporadic PD patients and control individuals. Results: This study showed that two SNPs near the promoter region (rs2301134 and rs2301135) of SNCA gene gave the greatest evidence for an association with PD (p ≤ 0.01) and a haplotype block with two SNPs in the 3' UTR (rs356221 and rs11931074) revealed another evidence of association (p ≤ 0.02). For the LRRK2 gene, only R1628P variants of total 16 SNPs giving a marginal significant association with PD across the whole gene (p = 0.0058) and no haplotype block was constructed. Many genetic variants (A419V, I1122V, R1441C, R1441G, R1441H, Y1699C, M1869. V, M1869T, I2012T, G2019S, and I2020T) from previous reports were not detected in our cohort. Conclusions: We have replicated a population-based PD association study in a collection of 626 cases and 473 control subjects and confirm that genetic variants of both SNCA and LRRK2 genes are associated with susceptibility to sporadic PD but in a different distribution.

Original language	English
Pages (from-to)	251-255
Number of pages	5
Journal	Parkinsonism and Related Disorders
Volume	19
Issue number	2
DOIs	https://doi.org/10.1016/j.parkreldis.2012.10.019
Publication status	Published - Feb 2013
Externally published	Yes

Keywords

Genetic susceptibility
LRRK2
Parkinson's disease
Replication study
SNCA

ASJC Scopus subject areas

Geriatrics and Gerontology
Clinical Neurology
Neurology

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10.1016/j.parkreldis.2012.10.019

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Wu-Chou, Y. H., Chen, Y. T., Yeh, T. H., Chang, H. C., Weng, Y. H., Lai, S. C., Huang, C. L., Chen, R. S., Huang, Y. Z., Chen, C. C., Hung, J., Chuang, W. L., Lin, W. Y., Chen, C. H., & Lu, C. S. (2013). Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: A replication study in a Taiwanese cohort. Parkinsonism and Related Disorders, 19(2), 251-255. https://doi.org/10.1016/j.parkreldis.2012.10.019

Wu-Chou, YH, Chen, YT, Yeh, TH, Chang, HC, Weng, YH, Lai, SC, Huang, CL, Chen, RS, Huang, YZ, Chen, CC, Hung, J, Chuang, WL, Lin, WY, Chen, CH & Lu, CS 2013, 'Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: A replication study in a Taiwanese cohort', Parkinsonism and Related Disorders, vol. 19, no. 2, pp. 251-255. https://doi.org/10.1016/j.parkreldis.2012.10.019

@article{87edbe2d5d8f4f6696a0c245f8a623a5,

title = "Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: A replication study in a Taiwanese cohort",

abstract = "Background: Parkinson's disease (PD) is one of the most prevalent age-related neurodegenerative diseases and usually refers to a complex disorder with multiple genetic and environmental factors influencing disease risk. We here performed a gene-based case-control association study to scrutinize whether genetic variants in SNCA and LRRK2 genes could predispose to sporadic, late-onset form of PD in Taiwanese population. Methods: 17 Single Nucleotide Polymorphisms (SNPs) markers located within SNCA gene as well as the 16 SNP markers within LRRK2 gene were chosen for genotyping and evaluated their haplotype structure in a cohort of sporadic PD patients and control individuals. Results: This study showed that two SNPs near the promoter region (rs2301134 and rs2301135) of SNCA gene gave the greatest evidence for an association with PD (p ≤ 0.01) and a haplotype block with two SNPs in the 3' UTR (rs356221 and rs11931074) revealed another evidence of association (p ≤ 0.02). For the LRRK2 gene, only R1628P variants of total 16 SNPs giving a marginal significant association with PD across the whole gene (p = 0.0058) and no haplotype block was constructed. Many genetic variants (A419V, I1122V, R1441C, R1441G, R1441H, Y1699C, M1869. V, M1869T, I2012T, G2019S, and I2020T) from previous reports were not detected in our cohort. Conclusions: We have replicated a population-based PD association study in a collection of 626 cases and 473 control subjects and confirm that genetic variants of both SNCA and LRRK2 genes are associated with susceptibility to sporadic PD but in a different distribution.",

keywords = "Genetic susceptibility, LRRK2, Parkinson's disease, Replication study, SNCA",

author = "Wu-Chou, {Yah Huei} and Chen, {Ying Ting} and Yeh, {Tu Hsueh} and Chang, {Hsiu Chen} and Weng, {Yi Hsin} and Lai, {Szu Chia} and Huang, {Chia Ling} and Chen, {Rou Shayn} and Huang, {Ying Zu} and Chen, {Chiung Chu} and June Hung and Chuang, {Wen Li} and Lin, {Wey Yil} and Chen, {Chien Hsiun} and Lu, {Chin Song}",

note = "Funding Information: The authors would like to thank all the participants for their contributions in this study. This work was supported by the Chang Gung Medical Foundation (grant number CMRPG371121–CMRPG371123 to Y.W-C. and CMRPG371112 to C.L.). The authors are also grateful to DNA Sequencing Core Laboratory and Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Linkou for technical assistance.",

year = "2013",

month = feb,

doi = "10.1016/j.parkreldis.2012.10.019",

language = "English",

volume = "19",

pages = "251--255",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

publisher = "Elsevier BV",

number = "2",

}

TY - JOUR

T1 - Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility

T2 - A replication study in a Taiwanese cohort

AU - Wu-Chou, Yah Huei

AU - Chen, Ying Ting

AU - Yeh, Tu Hsueh

AU - Chang, Hsiu Chen

AU - Weng, Yi Hsin

AU - Lai, Szu Chia

AU - Huang, Chia Ling

AU - Chen, Rou Shayn

AU - Huang, Ying Zu

AU - Chen, Chiung Chu

AU - Hung, June

AU - Chuang, Wen Li

AU - Lin, Wey Yil

AU - Chen, Chien Hsiun

AU - Lu, Chin Song

N1 - Funding Information: The authors would like to thank all the participants for their contributions in this study. This work was supported by the Chang Gung Medical Foundation (grant number CMRPG371121–CMRPG371123 to Y.W-C. and CMRPG371112 to C.L.). The authors are also grateful to DNA Sequencing Core Laboratory and Genomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, Linkou for technical assistance.

PY - 2013/2

Y1 - 2013/2

N2 - Background: Parkinson's disease (PD) is one of the most prevalent age-related neurodegenerative diseases and usually refers to a complex disorder with multiple genetic and environmental factors influencing disease risk. We here performed a gene-based case-control association study to scrutinize whether genetic variants in SNCA and LRRK2 genes could predispose to sporadic, late-onset form of PD in Taiwanese population. Methods: 17 Single Nucleotide Polymorphisms (SNPs) markers located within SNCA gene as well as the 16 SNP markers within LRRK2 gene were chosen for genotyping and evaluated their haplotype structure in a cohort of sporadic PD patients and control individuals. Results: This study showed that two SNPs near the promoter region (rs2301134 and rs2301135) of SNCA gene gave the greatest evidence for an association with PD (p ≤ 0.01) and a haplotype block with two SNPs in the 3' UTR (rs356221 and rs11931074) revealed another evidence of association (p ≤ 0.02). For the LRRK2 gene, only R1628P variants of total 16 SNPs giving a marginal significant association with PD across the whole gene (p = 0.0058) and no haplotype block was constructed. Many genetic variants (A419V, I1122V, R1441C, R1441G, R1441H, Y1699C, M1869. V, M1869T, I2012T, G2019S, and I2020T) from previous reports were not detected in our cohort. Conclusions: We have replicated a population-based PD association study in a collection of 626 cases and 473 control subjects and confirm that genetic variants of both SNCA and LRRK2 genes are associated with susceptibility to sporadic PD but in a different distribution.

AB - Background: Parkinson's disease (PD) is one of the most prevalent age-related neurodegenerative diseases and usually refers to a complex disorder with multiple genetic and environmental factors influencing disease risk. We here performed a gene-based case-control association study to scrutinize whether genetic variants in SNCA and LRRK2 genes could predispose to sporadic, late-onset form of PD in Taiwanese population. Methods: 17 Single Nucleotide Polymorphisms (SNPs) markers located within SNCA gene as well as the 16 SNP markers within LRRK2 gene were chosen for genotyping and evaluated their haplotype structure in a cohort of sporadic PD patients and control individuals. Results: This study showed that two SNPs near the promoter region (rs2301134 and rs2301135) of SNCA gene gave the greatest evidence for an association with PD (p ≤ 0.01) and a haplotype block with two SNPs in the 3' UTR (rs356221 and rs11931074) revealed another evidence of association (p ≤ 0.02). For the LRRK2 gene, only R1628P variants of total 16 SNPs giving a marginal significant association with PD across the whole gene (p = 0.0058) and no haplotype block was constructed. Many genetic variants (A419V, I1122V, R1441C, R1441G, R1441H, Y1699C, M1869. V, M1869T, I2012T, G2019S, and I2020T) from previous reports were not detected in our cohort. Conclusions: We have replicated a population-based PD association study in a collection of 626 cases and 473 control subjects and confirm that genetic variants of both SNCA and LRRK2 genes are associated with susceptibility to sporadic PD but in a different distribution.

KW - Genetic susceptibility

KW - LRRK2

KW - Parkinson's disease

KW - Replication study

KW - SNCA

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U2 - 10.1016/j.parkreldis.2012.10.019

DO - 10.1016/j.parkreldis.2012.10.019

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AN - SCOPUS:84873719976

SN - 1353-8020

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JF - Parkinsonism and Related Disorders

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ER -

Genetic variants of SNCA and LRRK2 genes are associated with sporadic PD susceptibility: A replication study in a Taiwanese cohort

Abstract

Keywords

ASJC Scopus subject areas

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