HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry

E K K Henriksen; M K Viken; M Wittig; K Holm; T Folseraas; S Mucha; E Melum; J R Hov; K N Lazaridis; B D Juran; O Chazouillères; M Färkkilä; D N Gotthardt; P Invernizzi; M Carbone; G M Hirschfield; S M Rushbrook; E Goode; C Y Ponsioen; R K Weersma; B Eksteen; K K Yimam; S C Gordon; D Goldberg; L Yu; C L Bowlus; B A Lie; T H Karlsen; UK-PSC Consortium; Andre Franke

doi:10.1111/tan.13076

HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry

E K K Henriksen, M K Viken, M Wittig, K Holm, T Folseraas, S Mucha, E Melum, J R Hov, K N Lazaridis, B D Juran, O Chazouillères, M Färkkilä, D N Gotthardt, P Invernizzi, M Carbone, G M Hirschfield, S M Rushbrook, E Goode, C Y Ponsioen, R K WeersmaB Eksteen, K K Yimam, S C Gordon, D Goldberg, L Yu, C L Bowlus, B A Lie, T H Karlsen, UK-PSC Consortium, Andre Franke

Immunology and Immunotherapy

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Journal	HLA
DOIs	https://doi.org/10.1111/tan.13076
Publication status	Published - 11 Jul 2017

Keywords

multi-ethnic
trans-ancestry
causative
human leukocyte antigen
PSC

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Henriksen, E. K. K., Viken, M. K., Wittig, M., Holm, K., Folseraas, T., Mucha, S., Melum, E., Hov, J. R., Lazaridis, K. N., Juran, B. D., Chazouillères, O., Färkkilä, M., Gotthardt, D. N., Invernizzi, P., Carbone, M., Hirschfield, G. M., Rushbrook, S. M., Goode, E., Ponsioen, C. Y., ... Franke, A. (2017). HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry. HLA. https://doi.org/10.1111/tan.13076

@article{03f9fb0f7015494780cdb24d3b5efe40,

title = "HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry",

abstract = "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.",

keywords = "multi-ethnic , trans-ancestry, causative, human leukocyte antigen, PSC",

author = "Henriksen, {E K K} and Viken, {M K} and M Wittig and K Holm and T Folseraas and S Mucha and E Melum and Hov, {J R} and Lazaridis, {K N} and Juran, {B D} and O Chazouill{\`e}res and M F{\"a}rkkil{\"a} and Gotthardt, {D N} and P Invernizzi and M Carbone and Hirschfield, {G M} and Rushbrook, {S M} and E Goode and Ponsioen, {C Y} and Weersma, {R K} and B Eksteen and Yimam, {K K} and Gordon, {S C} and D Goldberg and L Yu and Bowlus, {C L} and Lie, {B A} and Karlsen, {T H} and {UK-PSC Consortium} and Andre Franke",

note = "{\textcopyright} 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",

year = "2017",

month = jul,

day = "11",

doi = "10.1111/tan.13076",

language = "English",

journal = "HLA",

issn = "2059-2310",

publisher = "Wiley-Blackwell",

}

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, Ponsioen, CY, Weersma, RK, Eksteen, B, Yimam, KK, Gordon, SC, Goldberg, D, Yu, L, Bowlus, CL, Lie, BA, Karlsen, TH, UK-PSC Consortium & Franke, A 2017, 'HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry', HLA. https://doi.org/10.1111/tan.13076

TY - JOUR

T1 - HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry

AU - Henriksen, E K K

AU - Viken, M K

AU - Wittig, M

AU - Holm, K

AU - Folseraas, T

AU - Mucha, S

AU - Melum, E

AU - Hov, J R

AU - Lazaridis, K N

AU - Juran, B D

AU - Chazouillères, O

AU - Färkkilä, M

AU - Gotthardt, D N

AU - Invernizzi, P

AU - Carbone, M

AU - Hirschfield, G M

AU - Rushbrook, S M

AU - Goode, E

AU - Ponsioen, C Y

AU - Weersma, R K

AU - Eksteen, B

AU - Yimam, K K

AU - Gordon, S C

AU - Goldberg, D

AU - Yu, L

AU - Bowlus, C L

AU - Lie, B A

AU - Karlsen, T H

AU - UK-PSC Consortium

AU - Franke, Andre

PY - 2017/7/11

Y1 - 2017/7/11

N2 - 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.

AB - 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.

KW - multi-ethnic

KW - trans-ancestry

KW - causative

KW - human leukocyte antigen

KW - PSC

U2 - 10.1111/tan.13076

DO - 10.1111/tan.13076

M3 - Article

C2 - 28695657

SN - 2059-2310

JO - HLA

JF - HLA

ER -

HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry

Abstract

Keywords

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