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. 2023 Dec;44(12):1232-1239.
doi: 10.15537/smj.2023.44.12.20230490.

Single nucleotide polymorphisms in cytokine genes and their association with primary Sjögren's syndrome in Saudi patients: A cross-sectional study

Bashaer Alqahtani  1 , Maha Daghestani  1 , Mohammed A Omair  1 , Fahidah Alenzi  1 , Esam H Alhamad  1 , Yusra Tashkandy  1 , Nashwa Othman  1 , Arjumand Warsy  1 , Rabih Halwani  1
Affiliations

Single nucleotide polymorphisms in cytokine genes and their association with primary Sjögren's syndrome in Saudi patients: A cross-sectional study

Bashaer Alqahtani et al. Saudi Med J. 2023 Dec.

Abstract

Objectives: To determine the allelic frequencies and effects of genotypic variations in cytokine gene polymorphisms in a Saudi Arabian population.

Methods: This cross-sectional study involved 41 patients with Primary Sjögren's syndrome (pSS) and 71 healthy controls between October 2018 and May 2019. Single nucleotide polymorphisms genotyping was performed using the SEQUENOM MassARRAY® System, targeting nine polymorphisms in different cytokine genes. Chi-square tests were used to compare the patients and controls.

Results: The interleukin-1 beta (IL-1β) rs1143627 CT (control, 52.7%; patients, 21.2%) and TT + CT (p= 0.003; p=0.033) genotypes were less frequent in patients with pSS than in healthy controls. The C allele in rs10488631 in the interferon regulatory factor 5 (IRF5) gene and the A allele in rs12583006 in the B-cell activating factor (BAFF) gene were associated with an increased risk of pSS development in the patient group.

Conclusion: The CT genotype at -31 (rs1143627) in the IL-1β gene was not associated with a high risk of pSS development in the Saudi population, in contrast to what has been verified in other ethnicities. However, the C allele in rs10488631 in IRF-5 and the A allele in rs12583006 in BAFF were associated.

Keywords: B-cell activating factor (BAFF); Interferon regulatory factor 5 (IRF5); Interleukin-1 beta (IL-1β); Primary Sjögren’s syndrome (pSS); Single nucleotide polymorphism (SNP).

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