Sökning: WFRF:(Willet Julian DS) > HLA allele-calling ...
Fältnamn | Indikatorer | Metadata |
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000 | 03259naa a2200505 4500 | |
001 | oai:DiVA.org:uu-514929 | |
003 | SwePub | |
008 | 231024s2023 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5149292 URI |
024 | 7 | a https://doi.org/10.1101/2023.01.15.232845702 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Butler-Laporte, Guillaume4 aut |
245 | 1 0 | a HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank |
264 | 1 | b Cold Spring Harbor Laboratory,c 2023 |
338 | a print2 rdacarrier | |
520 | a The human leukocyte antigen (HLA) region on chromosome 6 is strongly associated with many immune-mediated and infection-related diseases. Due to its highly polymorphic nature and complex linkage disequilibrium patterns, traditional genetic association studies of single nucleotide polymorphisms (SNPs) do not perform well in this region. Instead, the field has adopted the assessment of the association of HLA alleles (i.e., entire HLA gene haplotypes) with disease. Often based on genotyping arrays, these association studies impute HLA alleles, decreasing accuracy and thus statistical power for rare alleles and in non-European ancestries. Here, we use whole-exome sequencing (WES) from 454,824 UK Biobank participants to directly call HLA alleles using the HLA- HD algorithm. We show this method is more accurate than imputing HLA alleles and harness the improved statistical power to identify 360 associations for 11 auto-immune phenotypes (at least 129 likely novel), leading to better insights into the specific coding polymorphisms that underlie these diseases. We show that HLA alleles with synonymous variants, often overlooked in HLA studies, can significantly influence these phenotypes. Lastly, we show that HLA sequencing may improve polygenic risk scores accuracy across ancestries. These findings allow better characterization of the role of the HLA region in human disease. | |
700 | 1 | a Farjoun, Joseph4 aut |
700 | 1 | a Nakanishi, Tomoko4 aut |
700 | 1 | a Lu, Tianyuan4 aut |
700 | 1 | a Abner, Erik4 aut |
700 | 1 | a Chen, Yiheng4 aut |
700 | 1 | a Hultström, Michaelu Uppsala universitet,Anestesiologi och intensivvård4 aut0 (Swepub:uu)mihul498 |
700 | 1 | a Metspalu, Andres4 aut |
700 | 1 | a Milani, Lili4 aut |
700 | 1 | a Mägi, Reedik4 aut |
700 | 1 | a Nelis, Mari4 aut |
700 | 1 | a Hudjashov, Georgi4 aut |
700 | 1 | a Yoshiji, Satoshi4 aut |
700 | 1 | a Ilboudo, Yann4 aut |
700 | 1 | a Liang, Kevin YH4 aut |
700 | 1 | a Su, Chen-Yang4 aut |
700 | 1 | a Willet, Julian DS4 aut |
700 | 1 | a Esko, Tõnu4 aut |
700 | 1 | a Zhou, Sirui4 aut |
700 | 1 | a Forgetta, Vincenzo4 aut |
700 | 1 | a Taliun, Daniel4 aut |
700 | 1 | a Richards, J Brent4 aut |
710 | 2 | a Uppsala universitetb Anestesiologi och intensivvård4 org |
773 | 0 | t Communicaitons Biologyd : Cold Spring Harbor Laboratory |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-514929 |
856 | 4 8 | u https://doi.org/10.1101/2023.01.15.23284570 |
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