ABSTRACT
Sex differences in Parkinson Disease (PD) risk are well-known. However, it is still unclear the role of sex chromosomes in the development and progression of PD. We performed the first X-chromosome Wide Association Study (XWAS) for PD risk in Latin American individuals. We used data from three admixed cohorts: (i) Latin American Research consortium on the GEnetics of Parkinson's Disease (n=1,504) as discover cohort and (ii) Latino cohort from International Parkinson Disease Genomics Consortium (n = 155) and (iii) Bambui Aging cohort (n= 1,442) as replication cohorts. After developing a X-chromosome framework specifically designed for admixed populations, we identified eight linkage disequilibrium regions associated with PD. We fully replicated one of these regions (top variant rs525496; discovery OR [95%CI]: 0.60 [0.478 - 0.77], p = 3.13 × 10 -5 ; replication OR: 0.60 [0.37-0.98], p = 0.04). rs525496 is an expression quantitative trait loci for several genes expressed in brain tissues, including RAB9B, H2BFM, TSMB15B and GLRA4 . We also replicated a previous XWAS finding (rs28602900), showing that this variant is associated with PD in non-European populations. Our results reinforce the importance of including X-chromosome and diverse populations in genetic studies.
ABSTRACT
La crisis sanitaria provocada por el COVID-19 generó la aplicación de medidas de distanciamiento social y confinamiento por largo tiempo, menoscabando la participación en el activismo comunitario y promoviendo el uso de las Tecnologías de Información y Comunicación (TIC) para el control y prevención de le enfermedad; no obstante, existe una gran distancia entre quienes tienen acceso a internet y quienes no, y la propagación de COVID-19 solo ha profundizado esta brecha. Se realizó un estudio descriptivo y correlacional con el fin de determinar la relación entre la brecha digital y las TIC para el control de la pandemia COVID-19, en 119 usuarios que acuden a un telecentro de la Amazonia Peruana. Se aplicó un cuestionario conformado por 37 items relacionados con la brecha digital y las TIC, evaluados mediante una escala de Likert. Asimismo, se aplicó un instrumento con 15 items para evaluar la búsqueda de información acerca del COVID-19. Para el análisis de datos se empleó estadística descriptiva e inferencial. Se encontró diferencias entre lo que se sabe y lo que debe saberse acerca del COVID-19, generando una brecha informativa acerca de la enfermedad; además se obtuvo una correlación entre la brecha digital y las TIC. Se requiere la implementación de programas de inclusión digital, políticas para el acceso y conectividad digital, establecimiento de otros telecentros y desarrollo de una infraestructura adecuada, que aminoren la brecha digital y promuevan el control y prevención del COVID-19(AU)
The health crisis caused by COVID-19 generated the application of social distancing and confinement measures for a long time, undermining participation in community activism and promoting the use of Information and Communication Technologies (ICT) for the control and prevention of the disease; however, there is a wide gap between those who have access to the internet and those who do not, and the spread of COVID-19 has only deepened this gap. A descriptive and correlational study was carried out in order to determine the relationship between the digital divide and ICTs for the control of the COVID-19 pandemic, in 119 users who attend a telecenter in the Peruvian Amazon. A questionnaire made up of 37 items related to the digital divide and ICTs, evaluated using a Likert scale, was applied. Likewise, an instrument with 15 items was applied to evaluate the search for information about COVID-19. Descriptive and inferential statistics were used for data analysis. Differences were found between what is known and what should be known about COVID-19, generating an information gap about the disease; In addition, a correlation between the digital divide and ICT was obtained. The implementation of digital inclusion programs, policies for digital access and connectivity, establishment of other telecenters and development of adequate infrastructure are required, which reduce the digital divide and promote the control and prevention of COVID-19(AU)
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Amazonian Ecosystem , Information Technology , Digital Divide , COVID-19 , Technology , Rural Areas , InternetABSTRACT
BACKGROUND: Asthma is a chronic disease of the airways and, despite the advances in the knowledge of associated genetic regions in recent years, their mechanisms have yet to be explored. Several genome-wide association studies have been carried out in recent years, but none of these have involved Latin American populations with a high level of miscegenation, as is seen in the Brazilian population. METHODS: 1246 children were recruited from a longitudinal cohort study in Salvador, Brazil. Asthma symptoms were identified in accordance with an International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire. Following quality control, 1,877,526 autosomal SNPs were tested for association with childhood asthma symptoms by logistic regression using an additive genetic model. We complemented the analysis with an estimate of the phenotypic variance explained by common genetic variants. Replications were investigated in independent Mexican and US Latino samples. RESULTS: Two chromosomal regions reached genome-wide significance level for childhood asthma symptoms: the 14q11 region flanking the DAD1 and OXA1L genes (rs1999071, MAF 0.32, OR 1.78, 95% CI 1.45-2.18, p-value 2.83 × 10(-8)) and 15q22 region flanking the FOXB1 gene (rs10519031, MAF 0.04, OR 3.0, 95% CI 2.02-4.49, p-value 6.68 × 10(-8) and rs8029377, MAF 0.03, OR 2.49, 95% CI 1.76-3.53, p-value 2.45 × 10(-7)). eQTL analysis suggests that rs1999071 regulates the expression of OXA1L gene. However, the original findings were not replicated in the Mexican or US Latino samples. CONCLUSIONS: We conclude that the 14q11 and 15q22 regions may be associated with asthma symptoms in childhood.
