Health Boards
This study constructed the most comprehensive structural variations (SV) map for psoriasis
Source: onlinelibrary.wiley.com
*Early view funding unknown
Quote:
Background:
Structural variations (SVs, defined as DNA variants ≥50 bp) have been associated with various complex human diseases. However, research to screen the whole genome for SVs predisposing to psoriasis is still lacking.
Objectives:
This study aimed to investigate the association of SVs and psoriasis.
Methods:
We performed a genome-wide screen on SVs using an imputation method on 5 independent cohorts with 45,386 subjects from the Chinese Han population. Fine mapping analysis, genetic interaction analysis and RNA expression analysis were conducted to explore the mechanism of SVs.
Results:
We obtained 4,535 SVs in total and identified 2 novel deletions (esv3608550, OR=2.73, P<2.00×10-308; esv3608542, OR=0.47, P=7.40×10-28) at 6q21.33 (MHC), 1 novel Alu element insertion (esv3607339, OR=1.22, P=1.18×10-35) at 5q33.3 (IL12B), and confirmed 1 previously reported deletion (esv3587563, OR=1.30, P=9.52×10-60) at 1q21.2 (LCE) for psoriasis. Fine mapping analysis including SNPs and small Insertions/Deletions (InDels) revealed that esv3608550 and esv3608542 were independently associated with psoriasis, and a novel independent SNP (rs9378188, OR=1.65, P=3.46×10-38) was identified at 6q21.33. By genetic interaction analysis and RNA expression analysis, we speculate that the association of 2 deletions at 6q21.33 with psoriasis might relate to their influence on the expression of HLA-C.
Conclusions:
Our study constructed the most comprehensive SV map for psoriasis thus far and enriched the genetic architecture and pathogenesis of psoriasis as well as highlighted the nonnegligible impact of SVs on complex diseases.
Source: onlinelibrary.wiley.com
*Early view funding unknown
