Genotype–phenotype characteristics of Vietnamese patients diagnosed with Charcot–Marie–Tooth disease

Nguyen‐Le, Trung‐Hieu; M, Duc; Le, Linh-Thy; Nhat, Quynh Nhu Nguyen; Hoang, Nghia Trong Tien; Le, Tuan Van; Mai, Thao Phuong

doi:10.1002/brb3.2744

Cited by 3 publications

(2 citation statements)

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“…The development of NGS in Vietnam has allowed comprehensive genetic studies of multiple pathogenic conditions (M. D. Do et al., January, 2022 ; H. T. Nguyen et al., 2020 ; H.‐N. Nguyen et al., 2021 ; Nguyen‐Le, 2022 ). Analyzing the spectrum of PD‐related genes in different ethnicities is becoming important to the understanding of the genetic mechanism underlying the disease.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic analysis of Vietnamese patients diagnosed with early‐onset Parkinson's disease

Tran

Luong

et al. 2023

Brain and Behavior

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Background Genetic factors play a crucial role in the pathogenesis of Parkinson's disease (PD). However, no comprehensive study has described genetic alterations in Vietnamese patients diagnosed with PD. This study aimed to identify genetic causes and their association with clinical phenotypes in a Vietnamese PD cohort. Methods A total of 83 patients with early‐onset PD (disease onset before the age of 50) were recruited for genetic analysis using a combination of multiplex ligation‐dependent probe amplification and next‐generation sequencing for a panel of 20 PD‐associated genes. Results It was found that 37 out of 83 patients carried genetic alterations, with 24 pathogenic/likely pathogenic/risk variants and 25 variants of uncertain significance. The pathogenic/likely pathogenic/risk variants were mostly detected in LRRK2 , PRKN , and GBA , while the variants of uncertain significance were identified in 12 different genes that were studied. The most common genetic alteration was LRRK2 c.4883G>C (p.Arg1628Pro), and patients with PD carrying this variant were found to have a distinct phenotype. Participants carrying pathogenic/likely pathogenic/risk variants had a significantly higher rate of a family history of PD. Conclusion These results provide a further understanding of genetic alterations associated with PD in a South‐East Asian population.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic analysis of Vietnamese patients diagnosed with early‐onset Parkinson's disease

Tran

Luong

et al. 2023

Brain and Behavior

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“…For example, it has been suggested that the Kinh Vietnamese population carries potentially unique genotype-phenotype associations. [30][31][32][33] For a country with approximately 100 million inhabitants and increasingly facing the challenges of T2DM, [34] genetic associations with T2DM in Kinh Vietnamese is important information that is worth studying. This study has some limitations.…”

Section: Tablementioning

confidence: 99%

Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population

et al. 2022

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Type 2 diabetes mellitus (T2DM) is a genetically influenced disease, but few studies have been performed to investigate the genetic basis of T2DM in Vietnamese subjects. Thus, the potential associations of KCNJ11 and ABCC8 single nucleotide polymorphisms (SNPs) with T2DM were investigated in a Kinh Vietnamese population. A cross-sectional study consisting of 404 subjects including 202 T2DM cases and 202 non-T2DM controls was designed to examine the potential associations of 4 KCNJ11 and ABCC8 SNPs (rs5219, rs2285676, rs1799859, and rs757110) with T2DM. Genotypes were identified based on restriction fragment length polymorphism and tetra-primer amplification refractory mutation system polymerase chain reaction. After statistically adjusting for age, sex, and BMI, rs5219 was found to be associated with an increased risk of T2DM under 2 inheritance models: codominant (OR = 2.15, 95% confidence intervals [CI] = 1.09–4.22) and recessive (OR = 2.08, 95%CI = 1.09–3.94). On the other hand, rs2285676, rs1799859, and rs757110 were not associated with an increased risk of T2DM. Haplotype analysis elucidated a strong linkage disequilibrium between the 3 SNPs, rs5219, rs2285676, and rs757110. The haplotype rs5219(A)/rs2285676(T)/rs757110(G) was associated with an increased risk of T2DM (OR = 1.42, 95%CI = 1.01–1.99). The results show that rs5219 is a lead candidate SNP associated with an increased risk of developing T2DM in the Kinh Vietnamese population. Further functional characterization is needed to uncover the mechanism underlying the potential genotype-phenotype associations.

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