INTRODUCTIONThe G2385R and R1628P LRRK2 gene variants have been associated with an increased risk of Parkinson's disease (PD) in the Asian population. Recently, a new LRRK2 gene variant, A419V, was reported to be a third risk variant for PD in Asian patients. Our objective was to investigate this finding in our cohort of Asian subjects.

MATERIALS AND METHODSEight hundred and twenty-eight subjects (404 PD patients, and 424 age and gender-matched control subjects without neurological disorders) were recruited. Genotyping was done by Taqman® allelic discrimination assay on an Applied Biosystems 7500 Fast Real-Time PCR machine.

RESULTSThe heterozygous A419V genotype was found in only 1 patient with PD, compared to 3 in the control group (0.4% vs 1.3%), giving an odds ratio of 0.35 (95% confidence interval (CI), 0.01 to 3.79; P = 0.624).

CONCLUSIONA419V is not an important LRRK2 risk variant in our Asian cohort of patients with PD. Our data are further supported by a literature review which showed that 4 out of 6 published studies reported a negative association of this variant in PD.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alanine ; genetics ; Case-Control Studies ; China ; ethnology ; Cohort Studies ; Cytosine ; Female ; Gene Frequency ; Genetic Variation ; genetics ; Genotype ; Heterozygote ; Humans ; India ; ethnology ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Malaysia ; ethnology ; Male ; Middle Aged ; Parkinson Disease ; genetics ; Polymorphism, Genetic ; genetics ; Protein-Serine-Threonine Kinases ; genetics ; Risk Factors ; Singapore ; Thymine ; Valine ; genetics ; Young Adult

Introduction: Untreated iron deficiency (ID) can lead to severe anaemia, requiring blood transfusion, or increased mortality risk. Globally intravenous (IV) iron is increasingly recognised as a recommended option for patients. This study aims to evaluate the budget impact associated with introducing a new intravenous (IV) iron, ferric derisomaltose (Monofer® [IIM]) as one of the treatment options for the management of ID in the Ministry of Health Malaysia (MOHM) setting. Methods: A 5-year budget impact model was developed from 2020 to 2024 for patients with ID that require a high iron dose (≥500 mg), using the perspective of MOHM. The model was built with four external medical specialists, each with experience and deep knowledge of ID management, to support estimations on the future development of iron use in Malaysia. Results: Compared to the current market mix with the existing IV iron products (i.e., iron sucrose and iron dextran), a cost-saving of MYR 53,910 could be achieved with the introduction of IIM in 2020. The uptake of IIM into MOHM over five years is estimated to lead to an overall budget saving of MYR 11,837,524 over a 5-year time horizon. Conclusion: The use of IIM in place of the current IV iron products in MOHM resulted in a significant cost saving by reducing the number of visits required to achieve the targeted iron dose and the shorter IV infusion time with IIM.