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Identification of a shared genetic risk locus for Kawasaki disease and IgA vasculitis by a cross-phenotype meta-analysisCarmona, Elio G ...Objectives: Combination of genomic data of different pathologies as a single phenotype has emerged as a useful strategy to identify genetic risk loci shared among immune-mediated diseases. Our study ... aimed to increase our knowledge of the genetic contribution to Kawasaki disease (kDa) and IgA vasculitis (IgAV) by performing the first comprehensive large-scale analysis on the genetic overlap between both pediatric vasculitis. Methods: A total of 1,190 vasculitis patients and 11 302 healthy controls were analyzed. First, in the discovery phase, genome-wide data of 405 kDa patients and 6,252 controls and 215 IgAV patients and 1,324 controls, all of European origin, were combined using an inverse variance meta-analysis. Second, the top associated polymorphisms were selected for replication in additional independent cohorts (570 cases and 3,726 controls). Polymorphisms with p-values ≤ 5x1 0 -8 in the global IgAV-kDa meta-analysis were considered as shared genetic risk loci. Results: A genetic variant, rs3743841, located in an intron of the NAGPA gene, reached genome-wide significance in the cross-disease meta-analysis (p= 8.06x10-10). Additionally, when IgAV was individually analyzed, a strong association between rs3743841 and this vasculitis was also evident (p= 1.25x10-7; OR (95% CI)=1.47 (1.27-1.69)). In silico functional annotation showed that this polymorphism acts as a regulatory variant modulating the expression levels of the NAGPA and SEC14L5 genes. Conclusion: We have identified a new risk locus with pleiotropic effects on the two vasculitis of childhood analyzed. This locus represents the strongest non-HLA signal described for IgAV to date.Vir: Rheumatology. - ISSN 1462-0324 (Vol. 61, iss. 3, 2022, str. 1204-1210)Vrsta gradiva - članek, sestavni del ; neleposlovje za odrasleLeto - 2022Jezik - angleškiCOBISS.SI-ID - 92824067
Avtor
Carmona, Elio G |
García-Giménez, Jose A. |
López-Mejías, Raquel |
Chuen Khor, Chiea |
Lee, Jong-Keuk |
Taskiran, Ekim |
Ozen, Seza |
Hočevar, Alojzija |
Gorenjak, Mario |
Potočnik, Uroš, 1969-
Teme
IgA vaskulitis |
Kawasakijeva bolezen |
študija asociacije na celotnem genomu |
IgA vasculitis |
Kawasaki disease |
genome-wide association study
Vnos na polico
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
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Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
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Carmona, Elio G | |
García-Giménez, Jose A. | |
López-Mejías, Raquel | |
Chuen Khor, Chiea | |
Lee, Jong-Keuk | |
Taskiran, Ekim | |
Ozen, Seza | |
Hočevar, Alojzija | 22344 |
Gorenjak, Mario | 33268 |
Potočnik, Uroš, 1969- | 16340 |
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