Genome-wide association study identifies risk loci within the major histocompatibility complex region for Hunner-type interstitial cystitis
Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved..
Hunner-type interstitial cystitis (HIC) is a rare, chronic inflammatory disease of the urinary bladder with unknown etiology and genetic background. Here, we conduct a genome-wide association study of 144 patients with HIC and 41,516 controls of Japanese ancestry. The genetic variant, rs1794275, in the major histocompatibility complex (MHC) region (chromosome 6p21.3) is associated with HIC risk (odds ratio [OR] = 2.32; p = 3.4 × 10-9). The association is confirmed in a replication set of 26 cases and 1,026 controls (p = 0.014). Fine mapping demonstrates the contribution to the disease risk of a completely linked haplotype of three human leukocyte antigen HLA-DQβ1 amino acid positions, 71, 74, and 75 (OR = 1.94; p = 5 × 10-8) and of HLA-DPβ1 amino acid position 178, which tags HLA-DPB1∗04:02 (OR = 2.35; p = 7.5 × 10-8). The three HLA-DQβ1 amino acid positions are located together at the peptide binding groove, suggesting their functional importance in antigen presentation. Our study reveals genetic contributions to HIC risk that may be associated with class II MHC molecule antigen presentation.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:4 |
|---|---|
| Enthalten in: |
Cell reports. Medicine - 4(2023), 7 vom: 18. Juli, Seite 101114 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Akiyama, Yoshiyuki [VerfasserIn] |
|---|
| Links: |
|---|
| Anmerkungen: |
Date Completed 21.07.2023 Date Revised 04.08.2023 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.xcrm.2023.101114 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM359681786 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM359681786 | ||
| 003 | DE-627 | ||
| 005 | 20231226081408.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.xcrm.2023.101114 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1198.xml |
| 035 | |a (DE-627)NLM359681786 | ||
| 035 | |a (NLM)37467720 | ||
| 035 | |a (PII)S2666-3791(23)00242-2 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Akiyama, Yoshiyuki |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Genome-wide association study identifies risk loci within the major histocompatibility complex region for Hunner-type interstitial cystitis |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 21.07.2023 | ||
| 500 | |a Date Revised 04.08.2023 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a Hunner-type interstitial cystitis (HIC) is a rare, chronic inflammatory disease of the urinary bladder with unknown etiology and genetic background. Here, we conduct a genome-wide association study of 144 patients with HIC and 41,516 controls of Japanese ancestry. The genetic variant, rs1794275, in the major histocompatibility complex (MHC) region (chromosome 6p21.3) is associated with HIC risk (odds ratio [OR] = 2.32; p = 3.4 × 10-9). The association is confirmed in a replication set of 26 cases and 1,026 controls (p = 0.014). Fine mapping demonstrates the contribution to the disease risk of a completely linked haplotype of three human leukocyte antigen HLA-DQβ1 amino acid positions, 71, 74, and 75 (OR = 1.94; p = 5 × 10-8) and of HLA-DPβ1 amino acid position 178, which tags HLA-DPB1∗04:02 (OR = 2.35; p = 7.5 × 10-8). The three HLA-DQβ1 amino acid positions are located together at the peptide binding groove, suggesting their functional importance in antigen presentation. Our study reveals genetic contributions to HIC risk that may be associated with class II MHC molecule antigen presentation | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a HLA | |
| 650 | 4 | |a HLA imputation | |
| 650 | 4 | |a Hunner | |
| 650 | 4 | |a Japanese | |
| 650 | 4 | |a bladder pain syndrome | |
| 650 | 4 | |a genetics | |
| 650 | 4 | |a genome-wide association study | |
| 650 | 4 | |a interstitial cystitis | |
| 650 | 4 | |a major histocompatibility complex | |
| 650 | 4 | |a susceptibility | |
| 650 | 7 | |a Amino Acids |2 NLM | |
| 700 | 1 | |a Sonehara, Kyuto |e verfasserin |4 aut | |
| 700 | 1 | |a Maeda, Daichi |e verfasserin |4 aut | |
| 700 | 1 | |a Katoh, Hiroto |e verfasserin |4 aut | |
| 700 | 1 | |a Naito, Tatsuhiko |e verfasserin |4 aut | |
| 700 | 1 | |a Yamamoto, Kenichi |e verfasserin |4 aut | |
| 700 | 0 | |a Biobank Japan Project |e verfasserin |4 aut | |
| 700 | 1 | |a Morisaki, Takayuki |e verfasserin |4 aut | |
| 700 | 1 | |a Ishikawa, Shumpei |e verfasserin |4 aut | |
| 700 | 1 | |a Ushiku, Tetsuo |e verfasserin |4 aut | |
| 700 | 1 | |a Kume, Haruki |e verfasserin |4 aut | |
| 700 | 1 | |a Homma, Yukio |e verfasserin |4 aut | |
| 700 | 1 | |a Okada, Yukinori |e verfasserin |4 aut | |
| 700 | 1 | |a Matsuda, Koichi |e investigator |4 oth | |
| 700 | 1 | |a Yamanashi, Yuji |e investigator |4 oth | |
| 700 | 1 | |a Furukawa, Yoichi |e investigator |4 oth | |
| 700 | 1 | |a Morisaki, Takayuki |e investigator |4 oth | |
| 700 | 1 | |a Murakami, Yoshinori |e investigator |4 oth | |
| 700 | 1 | |a Kamatani, Yoichiro |e investigator |4 oth | |
| 700 | 1 | |a Muto, Kaori |e investigator |4 oth | |
| 700 | 1 | |a Nagai, Akiko |e investigator |4 oth | |
| 700 | 1 | |a Obara, Wataru |e investigator |4 oth | |
| 700 | 1 | |a Yamaji, Ken |e investigator |4 oth | |
| 700 | 1 | |a Takahashi, Kazuhisa |e investigator |4 oth | |
| 700 | 1 | |a Asai, Satoshi |e investigator |4 oth | |
| 700 | 1 | |a Takahashi, Yasuo |e investigator |4 oth | |
| 700 | 1 | |a Suzuki, Takao |e investigator |4 oth | |
| 700 | 1 | |a Sinozaki, Nobuaki |e investigator |4 oth | |
| 700 | 1 | |a Yamaguchi, Hiroki |e investigator |4 oth | |
| 700 | 1 | |a Minami, Shiro |e investigator |4 oth | |
| 700 | 1 | |a Murayama, Shigeo |e investigator |4 oth | |
| 700 | 1 | |a Yoshimori, Kozo |e investigator |4 oth | |
| 700 | 1 | |a Nagayama, Satoshi |e investigator |4 oth | |
| 700 | 1 | |a Obata, Daisuke |e investigator |4 oth | |
| 700 | 1 | |a Higashiyama, Masahiko |e investigator |4 oth | |
| 700 | 1 | |a Masumoto, Akihide |e investigator |4 oth | |
| 700 | 1 | |a Koretsune, Yukihiro |e investigator |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |t Cell reports. Medicine |d 2020 |g 4(2023), 7 vom: 18. Juli, Seite 101114 |w (DE-627)NLM310587662 |x 2666-3791 |7 nnns |
| 773 | 1 | 8 | |g volume:4 |g year:2023 |g number:7 |g day:18 |g month:07 |g pages:101114 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.xcrm.2023.101114 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 4 |j 2023 |e 7 |b 18 |c 07 |h 101114 | ||