Please use this identifier to cite or link to this item:
Type
ArticleCopyright
Open access
Collections
- BA - IGM - Artigos de Periódicos [3686]
- IOC - Artigos de Periódicos [12708]
- MG - IRR - Artigos de Periódicos [4171]
Metadata
Show full item record
GENOME-WIDE BURDEN AND ASSOCIATION ANALYSES IMPLICATE COPY NUMBER VARIATIONS IN ASTHMA RISK AMONG CHILDREN AND YOUNG ADULTS FROM LATIN AMERICA
Genética
Crianças
Adultos
Técnicas de Genotipagem
America Latina
Inflamação
Dispneia
Author
Affilliation
Abstract
The genetic architecture of asthma was relatively well explored. However, some work remains in the field to improve our understanding on asthma genetics, especially in non-Caucasian populations and with regards to commonly neglected genetic variants, such as Copy Number Variations (CNVs). In the present study, we investigated the contribution of CNVs on asthma risk among Latin Americans. CNVs were inferred from SNP genotyping data. Genome wide burden and association analyses were conducted to evaluate the impact of CNVs on asthma outcome. We found no significant difference in the numbers of CNVs between asthmatics and non-asthmatics. Nevertheless, we found that CNVs are larger in patients then in healthy controls and that CNVs from cases intersect significantly more genes and regulatory elements. We also found that a deletion at 6p22.1 is associated with asthma symptoms in children from Salvador (Brazil) and in young adults from Pelotas (Brazil). To support our results, we conducted an in silico functional analysis and found that this deletion spans several regulatory elements, including two promoter elements active in lung cells. In conclusion, we found robust evidence that CNVs could contribute for asthma susceptibility. These results uncover a new perspective on the influence of genetic factors modulating asthma risk.
Keywords in Portuguese
AsmaGenética
Crianças
Adultos
Técnicas de Genotipagem
America Latina
Inflamação
Dispneia
Share