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01-10-2021 | Parkinson's Disease | Original Article

Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson’s disease in patients of Malay ancestry

Authors: Jia Lun Lim, Ebonne Yulin Ng, Shen-Yang Lim, Ai Huey Tan, Zariah Abdul-Aziz, Khairul Azmi Ibrahim, Aroma Agape Gopalai, Yi Wen Tay, Yuganthini Vijayanathan, Tzi Shin Toh, Soo Kun Lim, Ping-Chong Bee, Santhi Datuk Puvanarajah, Shanthi Viswanathan, Irene Looi, Thien Thien Lim, Gaik Bee Eow, Wee Kooi Cheah, Eng-King Tan, Azlina Ahmad-Annuar

Published in: Neurological Sciences | Issue 10/2021

Abstract

Background

Genome-wide association studies (GWAS) have shown that variants in the 3-methylcrotonyl-CoA carboxylase (MCCC1)/lysosome-associated membrane protein 3 (LAMP3) loci (rs10513789, rs12637471, rs12493050) reduce the risk of Parkinson’s disease (PD) in Caucasians, Chinese and Ashkenazi-Jews while the rs11248060 variant in the diacylglycerol kinase theta (DGKQ) gene increases the risk of PD in Caucasian and Han Chinese cohorts. However, their roles in Malays are unknown. Therefore, this study aims to investigate the association of these variants with the risk of PD in individuals of Malay ancestry.

Methods

A total of 1114 subjects comprising of 536 PD patients and 578 healthy controls of Malay ancestry were recruited and genotyped using Taqman® allelic discrimination assays.

Results

The G allele of rs10513789 (OR = 0.83, p = 0.001) and A allele of rs12637471 (OR = 0.79, p = 0.007) in the MCCC1/LAMP3 locus were associated with a protective effect against developing PD in the Malay population. A recessive model of penetrance showed a protective effect of the GG genotype for rs10513789 and the AA genotype for rs12637471. No association with PD was found with the other MCCC1/LAMP3 rs12493050 variant or with the DGKQ (rs11248060) variant. No significant associations were found between the four variants with the age at PD diagnosis.

Conclusion

MCCC1/LAMP3 variants rs10513789 and rs12637471 protect against PD in the Malay population.

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Title: Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson’s disease in patients of Malay ancestry
Authors: Jia Lun Lim
Ebonne Yulin Ng
Shen-Yang Lim
Ai Huey Tan
Zariah Abdul-Aziz
Khairul Azmi Ibrahim
Aroma Agape Gopalai
Yi Wen Tay
Yuganthini Vijayanathan
Tzi Shin Toh
Soo Kun Lim
Ping-Chong Bee
Santhi Datuk Puvanarajah
Shanthi Viswanathan
Irene Looi
Thien Thien Lim
Gaik Bee Eow
Wee Kooi Cheah
Eng-King Tan
Azlina Ahmad-Annuar
Publication date: 01-10-2021
Publisher: Springer International Publishing
Keyword: Parkinson's Disease
Published in: Neurological Sciences / Issue 10/2021
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05056-x

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson’s disease in patients of Malay ancestry

Abstract

Background

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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