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A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury
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A missense variant (rs2476601) in protein tyrosine phosphatase non-receptor type 22 can increase the risk of liver injury induced by various drugs (e.g., amoxicillin-clavulanate, terbinafine, flucloxacillin, and haloperidol).
“A recent genome-wide association study suggested that a missense variant (rs2476601) in protein tyrosine phosphatase non-receptor type 22 can increase the risk of liver injury induced by various drugs (e.g., amoxicillin-clavulanate, terbinafine, flucloxacillin, and haloperidol) [48].”
From Chinese guideline for the diagnosis and treatment of drug-induced liver injury: an update (2024) · cites this paper as [48]
A missense variant (rs2476601) in the PTPN22 gene is a genetic risk factor for DILI across multiple drugs and major ethnic groups, with an OR of 1.4.
“A missense variant (rs2476601) in the PTPN22 gene, located on chromosome 1, encoding the substitution of tryptophan for arginine in cytoplasmic tyrosine phosphatase, is a genetic risk factor for multiple drugs and across major ethnic groups with an OR of 1.4.”
From Drug-induced liver injury. Part I: Classification, diagnosis and treatment (2025) · cites this paper as [28]
The strongest association of the PTPN22 rs2476601 variant is with amoxicillin-clavulanate-induced DILI in Europeans (OR = 1.62, 95% CI: 1.32-1.98, allele frequency 13.3%).
“The strongest association was demonstrated for DILI induced by amoxicillin-clavulanate in Europeans (OR = 1.62, 95% CI: 1.32-1.98, alleles frequency: 13.3%).”
From Drug-induced liver injury. Part I: Classification, diagnosis and treatment (2025) · cites this paper as [28]
Among Europeans carrying HLA A*02:01 and DRB1*15:01 alleles, the rs2476601 variant doubles the risk of amoxicillin-clavulanate-induced DILI.
“Among Europeans carrying the HLA A*02:01 and DRB1*15:01 alleles, the rs2476601 variant doubles the risk of DILI induced by amoxicillin-clavulanate [28].”
From Drug-induced liver injury. Part I: Classification, diagnosis and treatment (2025) · cites this paper as [28]
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Metadata
- Authors
- Cirulli, E. T., Nicoletti, P., Abramson, K., Andrade, R. J., Bjornsson, E. S., Chalasani, N., Fontana, R. J., Hallberg, P., Li, Y. J., Lucena, M. I., Long, N., Molokhia, M., Nelson, M. R., Odin, J. A., Pirmohamed, M., Rafnar, T., Serrano, J., Stefánsson, K., Stolz, A., Daly, A. K., Aithal, G. P., Watkins, P. B., Aithal, G. P., Andrade, R. J., Bessone, F., Bjornsson, E., Cascorbi, I., Daly, A. K., Dillon, J. F., Day, C. P., Hallberg, P., Hernández, N., Ibanez, L., Kullak-Ublick, G. A., Laitinen, T., Larrey, D., Lucena, M. I., Maitland-van der Zee, A., Martin, J. H., Menzies, D., Molokhia, M., Pirmohamed, M., Qin, S., & Wadelius, M.
- Venue
- Gastroenterology
- Publisher
- Elsevier BV
- Published
- 2019-05
- Volume
- 156
- Issue
- 6
- Pages
- 1707-1716.e2
- ISSN
- 0016-5085
- PMC
- PMC6511989
- Cited by
- 137
- References
- 10
- Language
- en
- Licence
- Funders
- National Heart, Lung, and Blood Institute (N02-HL-64278)
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