Session Time: 1:15pm-2:45pm
Location: Hall 3FG
Objective: To investigate the association between variants in MCCC1/LAMP3 (rs12637471, rs12493050, rs10513789) and DGKQ (rs11248060) with PD in a Malay cohort.
Background: Previous genome-wide association studies (GWAS) in Parkinson’s disease (PD) reported that variants in the MCCC1/LAMP3 locus (rs12637471, rs12493050, and rs10513789) reduce the risk of PD in Caucasians, while the rs11248060 variant in DGKQ increases the risk of PD in European and Han Chinese cohorts. These have not been studied in Malay PD patients.
Methods: A Malay case-control cohort comprising 328 PD patients (mean age 61.64±10.9 years) and 205 non-neurological controls (mean age 61.13±9.0 years) were genotyped using Taqman® allelic discrimination assays on Applied Biosystems 7500 Fast Real-Time PCR machine.
Results: There were no deviations from Hardy Weinberg Equilibrium (HWE) for all variants except rs12493050. In rs12493050 only 14 patients and two controls presented the rs12493050 wildtype GG genotype hence showing a possibility of genetic drift. No significant differences were found between patients and controls for the MCCC1/LAMP3 rs12637471 variant (odds ratio [OR] 1.24, 95%CI 0.97-1.60, p=0.087), rs10513789 (OR 1.27, 95%CI 0.99-1.63, p=0.062) and DGKQ rs11248060 variant (OR 0.92, 95%CI 0.67-1.27, p=0.622).
Conclusions: Our preliminary results suggest that these variants are not associated with risk of developing PD in a Malaysian Malay cohort. Efforts to increase the sample size as well as screening other GWAS loci will enable further investigation into the genetic risk factors for PD in Malays.
References: 1. NALLS, M. A., PANKRATZ, N., LILL, C. M., DO, C. B., HERNANDEZ, D. G., SAAD, M., DESTEFANO, A. L., KARA, E., BRAS, J. & SHARMA, M. 2014. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease. Nature genetics, 46, 989-993. 2. PANKRATZ, N., WILK, J. B., LATOURELLE, J. C., DESTEFANO, A. L., HALTER, C., PUGH, E. W., DOHENY, K. F., GUSELLA, J. F., NICHOLS, W. C. & FOROUD, T. 2009. Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Human genetics, 124, 593-605.
To cite this abstract in AMA style:JL. Lim, AH. Tan, SY. Lim, AA. Azlina. Variants in MCCC1/LAMP3 and DGKQ Identified Through GWAS are Not Associated with PD in a Malaysian Malay Cohort [abstract]. Mov Disord. 2018; 33 (suppl 2). https://www.mdsabstracts.org/abstract/variants-in-mccc1-lamp3-and-dgkq-identified-through-gwas-are-not-associated-with-pd-in-a-malaysian-malay-cohort/. Accessed December 7, 2023.
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