Autosomal dominant Parkinson’s disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil

Abreu, Gabriella de Medeiros; Valença, D.; Campos, Mário; Silva, Camilla P. da; Pereira, Joäo Santos; Leite, Marco Antônio Araújo; Rosso, Ana Lucia; Nicaretta, Denise Hack; Vasconcellos, Luiz Felipe Rocha; Silva, Delson José da; Coletta, Marcus Vinicius Della; Santos, J. M.; Gonçalves, Andressa Pereira; Santos-Rebouças, Cíntia Barros; Pimentel, Márcia Mattos Gonçalves

doi:10.1016/j.neulet.2016.10.040

Cited by 16 publications

(11 citation statements)

References 13 publications

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“…This study identified two PD carriers for each mutation, p.N370S and p.L444P, respectively. A second Brazilian study from 2013 analyzed 141 Brazilian PD patients (no healthy controls) and found three p.L444P carriers (2.1%) and one p.N370S carrier (0.7%) [14]. Finally, a study performed in 128 Mexican Mestizo (MM) early onset PD patients (AAO<45 years old) and 252 healthy MM controls reported an excess of p.L444P in the PD group (n=7, 5.5%) compared to controls (n=0, p = 0.014) [15], and p.N370S was entirely absent in all participants.…”

Section: Discussionmentioning

confidence: 99%

The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

Vélez-Pardo

Lorenzo‐Betancor

Jiménez-Del-Río

et al. 2019

Parkinsonism & Related Disorders

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Background: Mutations in the glucocerebrosidase (GBA) gene are an important risk factor for Parkinson's disease (PD). However, most GBA genetic studies in PD have been performed in patients of European origin and very few data are available in other populations. Methods: We sequenced the entire GBA coding region in 602 PD patients and 319 controls from Colombia and Peru enrolled as part of the Latin American Research Consortium on the Genetics of Parkinson's disease (LARGE-PD).

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Section: Discussionmentioning

confidence: 99%

The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

Vélez-Pardo

Lorenzo‐Betancor

Jiménez-Del-Río

et al. 2019

Parkinsonism & Related Disorders

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“…The Wnt family member 7A ( WNT7A ) gene, as a member of WNT gene family, encodes secreted signaling proteins and is related to suppressing human lung cancer progression [93]. The synuclein alpha ( SNCA ) gene was found to be associated with Parkinson’s and Alzheimer’s diseases [94, 95]. Among the candidate genes, INS, IGF2, FOXO3, TH , SCD5 were related with milk composition traits according to previous studies, and identification of them in current study confirmed their potential functions.…”

Section: Discussionmentioning

confidence: 99%

CNV discovery for milk composition traits in dairy cattle using whole genome resequencing

et al. 2017

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BackgroundCopy number variations (CNVs) are important and widely distributed in the genome. CNV detection opens a new avenue for exploring genes associated with complex traits in humans, animals and plants. Herein, we present a genome-wide assessment of CNVs that are potentially associated with milk composition traits in dairy cattle.ResultsIn this study, CNVs were detected based on whole genome re-sequencing data of eight Holstein bulls from four half- and/or full-sib families, with extremely high and low estimated breeding values (EBVs) of milk protein percentage and fat percentage. The range of coverage depth per individual was 8.2–11.9×. Using CNVnator, we identified a total of 14,821 CNVs, including 5025 duplications and 9796 deletions. Among them, 487 differential CNV regions (CNVRs) comprising ~8.23 Mb of the cattle genome were observed between the high and low groups. Annotation of these differential CNVRs were performed based on the cattle genome reference assembly (UMD3.1) and totally 235 functional genes were found within the CNVRs. By Gene Ontology and KEGG pathway analyses, we found that genes were significantly enriched for specific biological functions related to protein and lipid metabolism, insulin/IGF pathway-protein kinase B signaling cascade, prolactin signaling pathway and AMPK signaling pathways. These genes included INS, IGF2, FOXO3, TH, SCD5, GALNT18, GALNT16, ART3, SNCA and WNT7A, implying their potential association with milk protein and fat traits. In addition, 95 CNVRs were overlapped with 75 known QTLs that are associated with milk protein and fat traits of dairy cattle (Cattle QTLdb).ConclusionsIn conclusion, based on NGS of 8 Holstein bulls with extremely high and low EBVs for milk PP and FP, we identified a total of 14,821 CNVs, 487 differential CNVRs between groups, and 10 genes, which were suggested as promising candidate genes for milk protein and fat traits.Electronic supplementary materialThe online version of this article (doi:10.1186/s12864-017-3636-3) contains supplementary material, which is available to authorized users.

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“…GBA mutations have also been studied in few Latin American cohorts but mainly focused on most frequently reported mutations in other populations. The observed frequency of these mutations varies across regions ranging from 0.2% (p.N370S) to 0.7% (p.E326K) in Ecuadorians (23) and up to 5.5% (p.L444P) in Mexican Mestizo and Brazilian cohorts (23)(24)(25)(26)(27). Few studies have studied the entire GBA gene in Latin America, showing a frequency similar to those reported in individuals of European descent (4-5%), but lower than frequencies reported in Ashkenazi patients (20%) (28).…”

Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease

Torrealba‐Acosta

Prada

et al. 2021

Front. Neurol.

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Background: Most research in genomics of Parkinson's disease (PD) has been done in subjects of European ancestry, leading to sampling bias and leaving Latin American populations underrepresented. We sought to clinically characterize PD patients of Costa Rican origin and to sequence familial PD and atypical parkinsonism-associated genes in cases and controls.Methods: We enrolled 118 PD patients with 97 unrelated controls. Collected information included demographics, exposure to risk and protective factors, and motor and cognitive assessments. We sequenced coding and untranslated regions in familial PD and atypical parkinsonism-associated genes including GBA, SNCA, VPS35, LRRK2, GCH1, PRKN, PINK1, DJ-1, VPS13C, and ATP13A2.Results: Mean age of PD probands was 62.12 ± 13.51 years; 57.6% were male. The frequency of risk and protective factors averaged ~45%. Physical activity significantly correlated with better motor performance despite years of disease. Increased years of education were significantly associated with better cognitive function, whereas hallucinations, falls, mood disorders, and coffee consumption correlated with worse cognitive performance. We did not identify an association between tested genes and PD or any damaging homozygous or compound heterozygous variants. Rare variants in LRRK2 were nominally associated with PD; six were located between amino acids p.1620 and 1623 in the C-terminal-of-ROC (COR) domain of Lrrk2. Non-synonymous GBA variants (p.T369M, p.N370S, and p.L444P) were identified in three healthy individuals. One PD patient carried a pathogenic GCH1 variant, p.K224R.Discussion: This is the first study that describes sociodemographics, risk factors, clinical presentation, and genetics of Costa Rican patients with PD, adding information to genomics research in a Latino population.

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Autosomal dominant Parkinson’s disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil

Cited by 16 publications

References 13 publications

The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

CNV discovery for milk composition traits in dairy cattle using whole genome resequencing

Clinical and Genetic Analysis of Costa Rican Patients With Parkinson's Disease

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