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

Lim, Jia Lun and Ng, Ebonne Yulin and Lim, Shen-Yang and Tan, Ai Huey and Abdul-Aziz, Zariah and Ibrahim, Khairul Azmi and Gopalai, Aroma Agape and Tay, Yi Wen and Vijayanathan, Yuganthini and Toh, Tzi Shin and Lim, Soo Kun and Bee, Ping-Chong and Puvanarajah, Santhi Datuk and Viswanathan, Shanthi and Looi, Irene and Lim, Thien Thien and Eow, Gaik Bee and Cheah, Wee Kooi and Tan, Eng-King and Ahmad-Annuar, Azlina (2021) Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry. Neurological Sciences, 42 (10). pp. 4203-4207. ISSN 1590-1874, DOI

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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 (R) 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.

Item Type: Article
Funders: Ministry of Education, Malaysia[FRGS/1/2018/SKK08/UM/02/3], University of Malaya Parkinson's Disease and Movement Disorders Research Program[PV035-2017]
Uncontrolled Keywords: Parkinson's disease;MCCC1;LAMP3;rs10513789;rs12637471
Subjects: R Medicine
R Medicine > RC Internal medicine
Divisions: Faculty of Medicine
Depositing User: Ms Zaharah Ramly
Date Deposited: 31 May 2022 07:39
Last Modified: 31 May 2022 07:39

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