@misc{10481/59528,
year = {2019},
month = {2},
url = {http://hdl.handle.net/10481/59528},
abstract = {The importance of low frequency and rare variation in complex disease genetics
is difficult to estimate in patient populations. Genome-wide association studies are
therefore, underpowered to detect rare variation. We have used a combined approach
of genome-wide-based imputation with a highly stringent sequence kernel association
(SKAT) test and a case-control burden test. We identified 98 candidate genes containing
rare variation that in aggregate show association with SLE many of which have
recognized immunological function, but also function and expression related to relevant
tissues such as the joints, skin, blood or central nervous system. In addition we also find
that there is a significant enrichment of genes annotated for disease-causingmutations in
the OMIM database, suggesting that in complex diseases such as SLE, such mutations
may be involved in subtle or combined phenotypes or could accelerate specific organ
abnormalities found in the disease. We here provide an important resource of candidate
genes for SLE.},
publisher = {Frontiers Media},
keywords = {Systemic lupus erythematosus},
keywords = {Imputated rare variation},
keywords = {Sequence kernel association test},
keywords = {Aggregated case-control enrichment},
title = {Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach},
doi = {10.3389/fimmu.2019.00258},
author = {Martínez Bueno, Manuel and Alarcón Riquelme, Marta Eugenia},
}