HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry.
HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry.
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作者：
Henriksen EKK;Viken MK;Wittig M;Holm K;Folseraas T;Mucha S;Melum E;Hov JR;Lazaridis KN;Juran BD;Chazouillères O;Färkkilä M;Gotthardt DN;Invernizzi P;Carbone M;Hirschfield GM;Rushbrook SM;Goode E;UK-PSC Consortium;Ponsioen CY;Weersma RK;Eksteen B;Yimam KK;Gordon SC;Goldberg D;Yu L;Bowlus CL;Franke A;Lie BA;Karlsen TH
原发性硬化性胆管炎(PSC)与几种人类白细胞抗原(HLA)单倍型密切相关。由于广泛的连锁不平衡和在人类白细胞抗原复合体中的多个多态候选基因，识别这些关联的等位基因被证明是困难的。我们的目的是评估研究混合血统或非欧洲血统的人群是否有助于确定致病的HLA等位基因。当评估携带人类白细胞抗原-DRB1*13：01的单倍型(假设可以特别增加慢性胆管炎的易感性)时，我们观察到斯堪的纳维亚PSC人群中的每个单倍型都携带人类白细胞抗原-DQB1*06：03。相反，在混合/非欧洲PSC人群中，只有65%的单倍型携带该等位基因，提示在混合或多种族人群中进一步评估与PSC相关的单倍型HLA-DRB1*13：01-DQA1*01：03-DQB1*06：03可能有助于识别致病等位基因。
Primary sclerosing cholangitis (PSC) is strongly associated with several human leukocyte antigen (HLA) haplotypes. Due to extensive linkage disequilibrium and multiple polymorphic candidate genes in the HLA complex, identifying the alleles responsible for these associations has proven difficult. We aimed to evaluate whether studying populations of admixed or non-European descent could help in defining the causative HLA alleles. When assessing haplotypes carrying HLA-DRB1*13:01 (hypothesized to specifically increase the susceptibility to chronic cholangitis), we observed that every haplotype in the Scandinavian PSC population carried HLA-DQB1*06:03. In contrast, only 65% of HLA-DRB1*13:01 haplotypes in an admixed/non-European PSC population carried this allele, suggesting that further assessments of the PSC-associated haplotype HLA-DRB1*13:01-DQA1*01:03-DQB1*06:03 in admixed or multi-ethnic populations could aid in identifying the causative allele.
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影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ
影响因子：
30.8
作者：
Liu, Jimmy Z.;Hov, Johannes Roksund;Folseraas, Trine;Ellinghaus, Eva;Rushbrook, Simon M.;Doncheva, Nadezhda T.;Andreassen, Ole A.;Weersma, Rinse K.;Weismueller, Tobias J.;Eksteen, Bertus;Invernizzi, Pietro;Hirschfield, Gideon M.;Gotthardt, Daniel Nils;Pares, Albert;Ellinghaus, David;Shah, Tejas;Juran, Brian D.;Milkiewicz, Piotr;Rust, Christian;Schramm, Christoph;Mueller, Tobias;Srivastava, Brijesh;Dalekos, Georgios;Noethen, Markus M.;Herms, Stefan;Winkelmann, Juliane;Mitrovic, Mitja;Braun, Felix;Ponsioen, Cyriel Y.;Croucher, Peter J. P.;Sterneck, Martina;Teufel, Andreas;Mason, Andrew L.;Saarela, Janna;Leppa, Virpi;Dorfman, Ruslan;Alvaro, Domenico;Floreani, Annarosa;Onengut-Gumuscu, Suna;Rich, Stephen S.;Thompson, Wesley K.;Schork, Andrew J.;Naess, Sigrid;Thomsen, Ingo;Mayr, Gabriele;Koenig, Inke R.;Hveem, Kristian;Cleynen, Isabelle;Gutierrez-Achury, Javier;Ricano-Ponce, Isis;van Heel, David;Bjoernsson, Einar;Sandford, Richard N.;Durie, Peter R.;Melum, Espen;Vatn, Morten H.;Silverberg, Mark S.;Duerr, Richard H.;Padyukov, Leonid;Brand, Stephan;Sans, Miquel;Annese, Vito;Achkar, Jean-Paul;Boberg, Kirsten Muri;Marschall, Hanns-Ulrich;Chazouilleres, Olivier;Bowlus, Christopher L.;Wijmenga, Cisca;Schrumpf, Erik;Vermeire, Severine;Albrecht, Mario;Rioux, John D.;Alexander, Graeme;Bergquist, Annika;Cho, Judy;Schreiber, Stefan;Manns, Michael P.;Farkkila, Martti;Dale, Anders M.;Chapman, Roger W.;Lazaridis, Konstantinos N.;Franke, Andre;Anderson, Carl A.;Karlsen, Tom H.
通讯作者：
Karlsen, Tom H.
影响因子：
24.5
作者：
CHAPMAN, RW;VARGHESE, Z;SHERLOCK, S
通讯作者：
SHERLOCK, S
影响因子：
14.9
作者：
Gonzalez-Galarza FF;Christmas S;Middleton D;Jones AR
通讯作者：
Jones AR
影响因子：
13.5
作者：
FARRANT, JM;DOHERTY, DG;WILLIAMS, R
通讯作者：
WILLIAMS, R