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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003259naa a2200505 4500
001oai:DiVA.org:uu-514929
003SwePub
008231024s2023 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5149292 URI
0247 a https://doi.org/10.1101/2023.01.15.232845702 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Butler-Laporte, Guillaume4 aut
2451 0a HLA allele-calling using whole-exome sequencing identifies 129 novel associations in 11 autoimmune diseases: a multi-ancestry analysis in the UK Biobank
264 1b 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.
7001 a Farjoun, Joseph4 aut
7001 a Nakanishi, Tomoko4 aut
7001 a Lu, Tianyuan4 aut
7001 a Abner, Erik4 aut
7001 a Chen, Yiheng4 aut
7001 a Hultström, Michaelu Uppsala universitet,Anestesiologi och intensivvård4 aut0 (Swepub:uu)mihul498
7001 a Metspalu, Andres4 aut
7001 a Milani, Lili4 aut
7001 a Mägi, Reedik4 aut
7001 a Nelis, Mari4 aut
7001 a Hudjashov, Georgi4 aut
7001 a Yoshiji, Satoshi4 aut
7001 a Ilboudo, Yann4 aut
7001 a Liang, Kevin YH4 aut
7001 a Su, Chen-Yang4 aut
7001 a Willet, Julian DS4 aut
7001 a Esko, Tõnu4 aut
7001 a Zhou, Sirui4 aut
7001 a Forgetta, Vincenzo4 aut
7001 a Taliun, Daniel4 aut
7001 a Richards, J Brent4 aut
7102 a Uppsala universitetb Anestesiologi och intensivvård4 org
7730 t Communicaitons Biologyd : Cold Spring Harbor Laboratory
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-514929
8564 8u https://doi.org/10.1101/2023.01.15.23284570

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