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Khanjari, Yousef, Oladnabi, Morteza, Abdollahi, Nafiseh, Heidari, Ahmad, Mohammadi, Saeed, Tabarraei, Alijan. (1399). Variants in Intron 4 of PD-1 Gene are Associated with the Susceptibility to SLE in an Iranian Population. سامانه مدیریت نشریات علمی, 17(3), 204-214. doi: 10.22034/iji.2020.83046.1610
Yousef Khanjari; Morteza Oladnabi; Nafiseh Abdollahi; Ahmad Heidari; Saeed Mohammadi; Alijan Tabarraei. "Variants in Intron 4 of PD-1 Gene are Associated with the Susceptibility to SLE in an Iranian Population". سامانه مدیریت نشریات علمی, 17, 3, 1399, 204-214. doi: 10.22034/iji.2020.83046.1610
Khanjari, Yousef, Oladnabi, Morteza, Abdollahi, Nafiseh, Heidari, Ahmad, Mohammadi, Saeed, Tabarraei, Alijan. (1399). 'Variants in Intron 4 of PD-1 Gene are Associated with the Susceptibility to SLE in an Iranian Population', سامانه مدیریت نشریات علمی, 17(3), pp. 204-214. doi: 10.22034/iji.2020.83046.1610
Khanjari, Yousef, Oladnabi, Morteza, Abdollahi, Nafiseh, Heidari, Ahmad, Mohammadi, Saeed, Tabarraei, Alijan. Variants in Intron 4 of PD-1 Gene are Associated with the Susceptibility to SLE in an Iranian Population. سامانه مدیریت نشریات علمی, 1399; 17(3): 204-214. doi: 10.22034/iji.2020.83046.1610

Variants in Intron 4 of PD-1 Gene are Associated with the Susceptibility to SLE in an Iranian Population

Iranian Journal of Immunology
دوره 17، شماره 3، آذر 2020، صفحه 204-214    اصل مقاله (602.44 K)
نوع مقاله: Original Article
شناسه دیجیتال (DOI): 10.22034/iji.2020.83046.1610
نویسندگان
Yousef Khanjari1؛ Morteza Oladnabi2؛ Nafiseh Abdollahi3؛ Ahmad Heidari4؛ Saeed Mohammadi5؛ Alijan Tabarraei* 6
1Department of Microbiology, School of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.
2Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran.
3Golestan Rheumatology Research Center, Golestan University of Medical Sciences, Gorgan, Iran.
4Department of Research and Technology, Golestan University of Medical Sciences, Gorgan, Iran.
5Stem Cell Research Center, Golestan University of Medical Sciences, Gorgan, Iran
6Infectious Diseases Research Center, Golestan University of Medical Sciences, Gorgan, IR Iran.
چکیده
Background: Programmed cell death protein 1 (PD-1) is a negative costimulatory molecule with immunomodulatory properties. Recently, PD-1 gene defects have attracted attention in the pathogenesis of SLE. Objective: Here, we assessed the association of PD-1 gene polymorphisms in intron 4 and haplotypes with the susceptibility to SLE. Method: Seventy-six SLE patients and 159 healthy controls were included. We screened the polymorphisms by amplifying the intron 4 of the PD-1 gene with the specific primers followed by sequencing. Results: Two distinct SNPs were identified (rs6705653 and rs41386439) within the intron 4 of the PD-1 gene. The AA genotype of +7499 (G/A) SNP was associated with the higher risk of SLE [OR=3.31, 95% CI (1.25-8.76), p-value=0.045], while A allele was identified as a risk allele [OR=1.75, 95% CI (1.10-2.76), p-value=0.015]. However, no significant association was observed between the allele and the genotype frequencies of +7209 (C/T) polymorphic region of the PD-1 gene and susceptibility to SLE. Haplotype analysis showed the significantly higher presence of H2 haplotype (AC; +7499/+7209) [OR=1.70, 95% CI (1.24-2.33), p-value=0.0012] in SLE patients. Conclusion: To the best of our knowledge, this is the first report of the significant association of PD-1 +7499 (G/A) SNP with the SLE susceptibility and the first detection of both polymorphic loci in a population from Iran. However, more investigations are necessary to confirm these findings.
کلیدواژه‌ها
Intron 4؛ Iran؛ PDCD1؛ Polymorphism؛ Systemic Lupus Erythematosus
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