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Peer-reviewedCC BY 4.0International Journal of Molecular Sciences

Association of GSTM1 and GSTT1 Deletion Variants with Susceptibility to Behçet’s Disease in a Saudi Population: A Case Control Study

  1. 1Department of Molecular Biology and Genetics, Research and Innovation Institute, Ministry of Defense Health Services, Riyadh 12372, Saudi Arabia
  2. 2Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 12372, Saudi Arabia
  3. 3Division of Rheumatology, Department of Medicine, Prince Sultan Military Medical City, Riyadh 12372, Saudi Arabia

Abstract

Behçet’s disease (BD) is a chronic multisystem inflammatory disorder in which genetic susceptibility and oxidative stress may contribute to disease pathogenesis. Glutathione S-transferase (GST) enzymes play an important role in cellular antioxidant defense. Deletion variants of the GSTM1 and GSTT1 result in loss of enzyme activity and may influence susceptibility to BD. A case control study was conducted including 79 patients with BD (n = 79) and 100 controls (n = 100) from Saudi Arabia. Genotyping of GSTM1 and GSTT1 deletion variants was performed using multiplex polymerase chain reaction. Genotype frequencies were compared using odds ratios (ORs) and 95% confidence intervals (CIs). The frequency of GSTM1− null genotype was significantly more frequent in BD cases than in controls (OR = 2.11, 95% CI = 1.15–3.85; p = 0.016; adjusted OR = 2.51, 95% CI = 1.24–5.07; p = 0.010; corrected p = 0.021). The GSTT1− null genotype was also more frequent (OR = 3.10, 95% CI = 1.63–5.89; p = 0.001; adjusted OR = 2.25, 95% CI = 1.08–4.68; p = 0.030), although this association did not remain significant after Bonferroni correction (corrected p = 0.060). Combined genotype analysis showed a significant association for GSTM1−/GSTT1− (OR = 6.90, 95% CI = 2.65–17.98; p < 0.001; adjusted OR = 6.35, 95% CI = 1.89–21.35; p = 0.003) compared with the GSTM1+/GSTT1+ genotype, which remained significant after Bonferroni correction (corrected p = 0.008). Stratified analyses did not demonstrate a clear association between GST deletion variants and disease activity or gender. The present study suggests that the GSTM1− genotype and the combined GSTM1−/GSTT1− genotype are significantly associated with susceptibility to BD in the Saudi population, independent of age and sex.

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BibTeX
@article{mustafa2026association,
  title = {{Association of GSTM1 and GSTT1 Deletion Variants with Susceptibility to Behçet’s Disease in a Saudi Population: A Case Control Study}},
  author = {Mohammad Mustafa and Sarah Alkathiri and Seham Alrashidi and Shoug F. Algoblan and Fahdah Alokaily},
  journal = {International Journal of Molecular Sciences},
  year = {2026},
  month = oct,
  doi = {10.3390/ijms27219568},
  url = {https://www.mdpi.com/1422-0067/27/21/9568},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Association of GSTM1 and GSTT1 Deletion Variants with Susceptibility to Behçet’s Disease in a Saudi Population: A Case Control Study
AU  - Mohammad Mustafa
AU  - Sarah Alkathiri
AU  - Seham Alrashidi
AU  - Shoug F. Algoblan
AU  - Fahdah Alokaily
PY  - 2026
DA  - 2026/10/26
JO  - International Journal of Molecular Sciences
DO  - 10.3390/ijms27219568
UR  - https://www.mdpi.com/1422-0067/27/21/9568
AB  - Behçet’s disease (BD) is a chronic multisystem inflammatory disorder in which genetic susceptibility and oxidative stress may contribute to disease pathogenesis. Glutathione S-transferase (GST) enzymes play an important role in cellular antioxidant defense. Deletion variants of the GSTM1 and GSTT1 result in loss of enzyme activity and may influence susceptibility to BD. A case control study was conducted including 79 patients with BD (n = 79) and 100 controls (n = 100) from Saudi Arabia. Genotyping of GSTM1 and GSTT1 deletion variants was performed using multiplex polymerase chain reaction. Genotype frequencies were compared using odds ratios (ORs) and 95% confidence intervals (CIs). The frequency of GSTM1− null genotype was significantly more frequent in BD cases than in controls (OR = 2.11, 95% CI = 1.15–3.85; p = 0.016; adjusted OR = 2.51, 95% CI = 1.24–5.07; p = 0.010; corrected p = 0.021). The GSTT1− null genotype was also more frequent (OR = 3.10, 95% CI = 1.63–5.89; p = 0.001; adjusted OR = 2.25, 95% CI = 1.08–4.68; p = 0.030), although this association did not remain significant after Bonferroni correction (corrected p = 0.060). Combined genotype analysis showed a significant association for GSTM1−/GSTT1− (OR = 6.90, 95% CI = 2.65–17.98; p < 0.001; adjusted OR = 6.35, 95% CI = 1.89–21.35; p = 0.003) compared with the GSTM1+/GSTT1+ genotype, which remained significant after Bonferroni correction (corrected p = 0.008). Stratified analyses did not demonstrate a clear association between GST deletion variants and disease activity or gender. The present study suggests that the GSTM1− genotype and the combined GSTM1−/GSTT1− genotype are significantly associated with susceptibility to BD in the Saudi population, independent of age and sex.
SN  - 1422-0067
ER  -