PMID- 35169303
OWN - NLM
STAT- MEDLINE
DCOM- 20220405
LR  - 20240214
IS  - 1473-1150 (Electronic)
IS  - 1470-269X (Print)
IS  - 1470-269X (Linking)
VI  - 22
IP  - 2
DP  - 2022 Mar
TI  - HLA-B*07:02 and HLA-C*07:02 are associated with trimethoprim-sulfamethoxazole 
      respiratory failure.
PG  - 124-129
LID - 10.1038/s41397-022-00266-8 [doi]
AB  - We have identified an underrecognized severe adverse drug reaction (ADR) of 
      trimethoprim-sulfamethoxazole (TMP-SMX) associated respiratory failure in 
      previously healthy children and young adults. We investigated potential genetic 
      risk factors associated with TMP-SMX induced respiratory failure in a cohort of 
      seven patients. We explored whole genome sequence among seven patients 
      representing nearly half of all reported cases worldwide and 63 unrelated control 
      individuals in two stages: (1) human leukocyte antigen (HLA) locus variation as 
      several other ADRs have been associated HLA genetic variants and (2) coding 
      variation to catalog and explore potential rare variants contributing to this 
      devastating reaction. All cases were either heterozygous (carriers) or homozygous 
      for the common HLA-B*07:02-HLA-C*07:02 haplotype. Despite the small sample size, 
      this observation is statistically significant both in conservative comparison to 
      maximum reported population frequencies (binomial P = 0.00017 for HLA-B and 
      P = 0.00028 for HLA-C) and to our control population assessed by same HLA 
      genotyping approach (binomial P = 0.000001 for HLA-B and P = 0.000018 for HLA-C). 
      No gene elsewhere in the genome harnessed shared rare case enriched coding 
      variation. Our results suggests that HLA-B*07:02 and HLA-C*07:02 are necessary 
      for a patient to develop respiratory failure due to TMP-SMX.
CI  - (c) 2022. The Author(s), under exclusive licence to Springer Nature Limited.
FAU - Goldman, Jennifer L
AU  - Goldman JL
AUID- ORCID: 0000-0001-6628-8949
AD  - Department of Pediatrics, Children's Mercy Hospital, University of 
      Missouri-Kansas City, Kansas City, MO, USA. jlgoldman@cmh.edu.
FAU - Miller, Jenna O
AU  - Miller JO
AD  - Department of Pediatrics, Children's Mercy Hospital, University of 
      Missouri-Kansas City, Kansas City, MO, USA.
FAU - Miller, Neil
AU  - Miller N
AUID- ORCID: 0000-0002-6151-4780
AD  - Center for Pediatric Genomic Medicine, Children's Mercy Hospital, University of 
      Missouri-Kansas City, Kansas City, MO, USA.
FAU - Eveleigh, Robert
AU  - Eveleigh R
AD  - Canadian Center for Computational Genomics, McGill University and Genome Quebec 
      Innovation Center, Montreal, QC, Canada.
FAU - Gibson, Andrew
AU  - Gibson A
AD  - Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, 
      WA, Australia.
FAU - Phillips, Elizabeth J
AU  - Phillips EJ
AD  - Institute for Immunology and Infectious Diseases, Murdoch University, Murdoch, 
      WA, Australia.
AD  - Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
FAU - Pastinen, Tomi
AU  - Pastinen T
AD  - Center for Pediatric Genomic Medicine, Children's Mercy Hospital, University of 
      Missouri-Kansas City, Kansas City, MO, USA.
LA  - eng
GR  - R01 HG010863/HG/NHGRI NIH HHS/United States
GR  - R01 AI152183/AI/NIAID NIH HHS/United States
GR  - U01 AI154659/AI/NIAID NIH HHS/United States
GR  - R21 AI139021/AI/NIAID NIH HHS/United States
GR  - R01 GM129783/GM/NIGMS NIH HHS/United States
GR  - P50 GM115305/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20220216
PL  - United States
TA  - Pharmacogenomics J
JT  - The pharmacogenomics journal
JID - 101083949
RN  - 0 (HLA-B Antigens)
RN  - 0 (HLA-B*07 antigen)
RN  - 0 (HLA-B7 Antigen)
RN  - 0 (HLA-C Antigens)
RN  - 8064-90-2 (Trimethoprim, Sulfamethoxazole Drug Combination)
SB  - IM
MH  - Child
MH  - HLA-B Antigens/genetics
MH  - HLA-B7 Antigen
MH  - HLA-C Antigens/genetics
MH  - Humans
MH  - *Respiratory Insufficiency/chemically induced/genetics
MH  - *Trimethoprim, Sulfamethoxazole Drug Combination/adverse effects
PMC - PMC9125581
MID - NIHMS1804604
EDAT- 2022/02/17 06:00
MHDA- 2022/04/06 06:00
PMCR- 2022/05/23
CRDT- 2022/02/16 05:48
PHST- 2021/07/23 00:00 [received]
PHST- 2022/01/11 00:00 [accepted]
PHST- 2021/12/17 00:00 [revised]
PHST- 2022/02/17 06:00 [pubmed]
PHST- 2022/04/06 06:00 [medline]
PHST- 2022/02/16 05:48 [entrez]
PHST- 2022/05/23 00:00 [pmc-release]
AID - 10.1038/s41397-022-00266-8 [pii]
AID - 10.1038/s41397-022-00266-8 [doi]
PST - ppublish
SO  - Pharmacogenomics J. 2022 Mar;22(2):124-129. doi: 10.1038/s41397-022-00266-8. Epub 
      2022 Feb 16.