The University of Southampton
University of Southampton Institutional Repository

A multiancestry sex-stratified genome-wide association study of spontaneous clearance of hepatitis C virus

A multiancestry sex-stratified genome-wide association study of spontaneous clearance of hepatitis C virus
A multiancestry sex-stratified genome-wide association study of spontaneous clearance of hepatitis C virus

Background: spontaneous clearance of acute hepatitis C virus (HCV) infection is more common in women than in men, independent of known risk factors.

Methods: to identify sex-specific genetic loci, we studied 4423 HCV-infected individuals (2903 male, 1520 female) of European, African, and Hispanic ancestry. We performed autosomal, and X chromosome sex-stratified and combined association analyses in each ancestry group.

Results: a male-specific region near the adenosine diphosphate-ribosylation factor-like 5B (ARL5B) gene was identified. Individuals with the C allele of rs76398191 were about 30% more likely to have chronic HCV infection than individuals with the T allele (OR, 0.69; P = 1.98×10-07), and this was not seen in females. The ARL5B gene encodes an interferon-stimulated gene that inhibits immune response to double-stranded RNA viruses. We also identified suggestive associations near septin 6 and ribosomal protein L39 genes on the X chromosome. In box sexes, allele G of rs12852885 was associated with a 40% increase in HCV clearance compared with the A allele (OR,1.4; P =2.46×10-06). Septin 6 facilitates HCV replication via interaction with the HCV NS5b protein, and ribosomal protein L39 acts as an HCV core interactor.

Conclusions: these novel gene associations support differential mechanisms of HCV clearance between the sexes and provide biological targets for treatment or vaccine development.

ARL5B, GWAS, HCV, Host-genetics, immune, infection, Septin 6, Sex, X chromosome
0022-1899
2090-2098
Vergara, Candelaria
98ffd19e-b082-4383-bdb9-db47297bfbcc
Valencia, Ana
72ec5cc2-88be-419b-9029-c571c4564574
Thio, Chloe L.
9bb90dbe-60a7-4574-b16a-33d7a3ecb07b
Goedert, James J.
d28c5645-6f66-4763-8527-662cde9a8c13
Mangia, Alessandra
387abb92-702a-4d32-8c1b-15d962206854
Piazzolla, Valeria
57a677b5-5d7d-43b5-bf40-0728a5e3cb0a
Johnson, Eric
82e3d985-621c-41fe-b962-945113798484
Kral, Alex H.
8a6bcdec-9247-46e8-a861-b82814e6d733
O'Brien, Thomas R.
d4c2ee1d-3637-4ef8-be9c-944e79c4fc80
Mehta, Shruti H.
2bffa7e2-8618-4220-9b21-818dd59d6d3a
Kirk, Gregory D.
562ddcaa-f2c2-4e06-b87e-08e99b0e1244
Kim, Arthur Y.
c1677b18-8300-4e04-b0d1-8636b66c8ff8
Lauer, Georg M.
e7217e36-9234-4134-9c18-e95da7fb4a4a
Chung, Raymond T.
a60fbfbf-a68b-4fd3-8a88-584b57e4392a
Cox, Andrea L.
bca859d7-d75e-4429-b790-9a7feb07155b
Peters, Marion G.
3e3f5449-af51-4c42-b95f-1bbbfb62a18f
Khakoo, Salim I.
6c16d2f5-ae80-4d9b-9100-6bfb34ad0273
Alric, Laurent
c91ce23a-65b2-4d12-ad28-21070bb364ce
Cramp, Matthew E.
94034caa-fd63-48ef-bb7f-8f02f833bbce
Donfield, Sharyne M.
8740abaf-75d3-4158-9f0a-9f3d8ee8cb1f
Edlin, Brian R.
8b283770-9976-4308-9c7a-0141e2ac8f51
Busch, Michael P.
5f2b5b3f-57e9-49f1-9f6b-99858836b26e
Alexander, Graeme
d6f9e2a6-e860-4de0-9266-a6b12a1c55e5
Rosen, Hugo R.
d18dde61-16ce-4f49-92b5-c81669565676
Murphy, Edward L.
1dcc40fc-6c11-42ab-a241-3a83648f1fb0
Wojcik, Genevieve L.
ab83ff1b-8763-4f71-9787-7d217bdc16ba
Taub, Margaret A.
97382577-e1de-4d3e-9494-85bcdd631e69
Thomas, David L.
4577f453-925e-40f8-b846-4c760028dcce
Duggal, Priya
6308f862-4794-47a5-86b3-39239fd4fcbd
Vergara, Candelaria
98ffd19e-b082-4383-bdb9-db47297bfbcc
Valencia, Ana
72ec5cc2-88be-419b-9029-c571c4564574
Thio, Chloe L.
9bb90dbe-60a7-4574-b16a-33d7a3ecb07b
Goedert, James J.
d28c5645-6f66-4763-8527-662cde9a8c13
Mangia, Alessandra
387abb92-702a-4d32-8c1b-15d962206854
Piazzolla, Valeria
57a677b5-5d7d-43b5-bf40-0728a5e3cb0a
Johnson, Eric
82e3d985-621c-41fe-b962-945113798484
Kral, Alex H.
8a6bcdec-9247-46e8-a861-b82814e6d733
O'Brien, Thomas R.
d4c2ee1d-3637-4ef8-be9c-944e79c4fc80
Mehta, Shruti H.
2bffa7e2-8618-4220-9b21-818dd59d6d3a
Kirk, Gregory D.
562ddcaa-f2c2-4e06-b87e-08e99b0e1244
Kim, Arthur Y.
c1677b18-8300-4e04-b0d1-8636b66c8ff8
Lauer, Georg M.
e7217e36-9234-4134-9c18-e95da7fb4a4a
Chung, Raymond T.
a60fbfbf-a68b-4fd3-8a88-584b57e4392a
Cox, Andrea L.
bca859d7-d75e-4429-b790-9a7feb07155b
Peters, Marion G.
3e3f5449-af51-4c42-b95f-1bbbfb62a18f
Khakoo, Salim I.
6c16d2f5-ae80-4d9b-9100-6bfb34ad0273
Alric, Laurent
c91ce23a-65b2-4d12-ad28-21070bb364ce
Cramp, Matthew E.
94034caa-fd63-48ef-bb7f-8f02f833bbce
Donfield, Sharyne M.
8740abaf-75d3-4158-9f0a-9f3d8ee8cb1f
Edlin, Brian R.
8b283770-9976-4308-9c7a-0141e2ac8f51
Busch, Michael P.
5f2b5b3f-57e9-49f1-9f6b-99858836b26e
Alexander, Graeme
d6f9e2a6-e860-4de0-9266-a6b12a1c55e5
Rosen, Hugo R.
d18dde61-16ce-4f49-92b5-c81669565676
Murphy, Edward L.
1dcc40fc-6c11-42ab-a241-3a83648f1fb0
Wojcik, Genevieve L.
ab83ff1b-8763-4f71-9787-7d217bdc16ba
Taub, Margaret A.
97382577-e1de-4d3e-9494-85bcdd631e69
Thomas, David L.
4577f453-925e-40f8-b846-4c760028dcce
Duggal, Priya
6308f862-4794-47a5-86b3-39239fd4fcbd

Vergara, Candelaria, Valencia, Ana, Thio, Chloe L., Goedert, James J., Mangia, Alessandra, Piazzolla, Valeria, Johnson, Eric, Kral, Alex H., O'Brien, Thomas R., Mehta, Shruti H., Kirk, Gregory D., Kim, Arthur Y., Lauer, Georg M., Chung, Raymond T., Cox, Andrea L., Peters, Marion G., Khakoo, Salim I., Alric, Laurent, Cramp, Matthew E., Donfield, Sharyne M., Edlin, Brian R., Busch, Michael P., Alexander, Graeme, Rosen, Hugo R., Murphy, Edward L., Wojcik, Genevieve L., Taub, Margaret A., Thomas, David L. and Duggal, Priya (2021) A multiancestry sex-stratified genome-wide association study of spontaneous clearance of hepatitis C virus. Journal of Infectious Diseases, 223 (12), 2090-2098. (doi:10.1093/infdis/jiaa677).

Record type: Article

Abstract

Background: spontaneous clearance of acute hepatitis C virus (HCV) infection is more common in women than in men, independent of known risk factors.

Methods: to identify sex-specific genetic loci, we studied 4423 HCV-infected individuals (2903 male, 1520 female) of European, African, and Hispanic ancestry. We performed autosomal, and X chromosome sex-stratified and combined association analyses in each ancestry group.

Results: a male-specific region near the adenosine diphosphate-ribosylation factor-like 5B (ARL5B) gene was identified. Individuals with the C allele of rs76398191 were about 30% more likely to have chronic HCV infection than individuals with the T allele (OR, 0.69; P = 1.98×10-07), and this was not seen in females. The ARL5B gene encodes an interferon-stimulated gene that inhibits immune response to double-stranded RNA viruses. We also identified suggestive associations near septin 6 and ribosomal protein L39 genes on the X chromosome. In box sexes, allele G of rs12852885 was associated with a 40% increase in HCV clearance compared with the A allele (OR,1.4; P =2.46×10-06). Septin 6 facilitates HCV replication via interaction with the HCV NS5b protein, and ribosomal protein L39 acts as an HCV core interactor.

Conclusions: these novel gene associations support differential mechanisms of HCV clearance between the sexes and provide biological targets for treatment or vaccine development.

This record has no associated files available for download.

More information

Accepted/In Press date: 28 October 2020
e-pub ahead of print date: 29 October 2020
Published date: 15 June 2021
Keywords: ARL5B, GWAS, HCV, Host-genetics, immune, infection, Septin 6, Sex, X chromosome

Identifiers

Local EPrints ID: 484927
URI: http://eprints.soton.ac.uk/id/eprint/484927
ISSN: 0022-1899
PURE UUID: e1527b1f-815b-4968-8829-3e12a061c8af
ORCID for Salim I. Khakoo: ORCID iD orcid.org/0000-0002-4057-9091

Catalogue record

Date deposited: 24 Nov 2023 17:39
Last modified: 18 Mar 2024 02:55

Export record

Altmetrics

Contributors

Author: Candelaria Vergara
Author: Ana Valencia
Author: Chloe L. Thio
Author: James J. Goedert
Author: Alessandra Mangia
Author: Valeria Piazzolla
Author: Eric Johnson
Author: Alex H. Kral
Author: Thomas R. O'Brien
Author: Shruti H. Mehta
Author: Gregory D. Kirk
Author: Arthur Y. Kim
Author: Georg M. Lauer
Author: Raymond T. Chung
Author: Andrea L. Cox
Author: Marion G. Peters
Author: Salim I. Khakoo ORCID iD
Author: Laurent Alric
Author: Matthew E. Cramp
Author: Sharyne M. Donfield
Author: Brian R. Edlin
Author: Michael P. Busch
Author: Graeme Alexander
Author: Hugo R. Rosen
Author: Edward L. Murphy
Author: Genevieve L. Wojcik
Author: Margaret A. Taub
Author: David L. Thomas
Author: Priya Duggal

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×