The Association Between IL1R1 and IL1R2 Gene Polymorphisms and Alzheimer's Disease in the Turkish Population

Abstract

Alzheimer's disease (AD) is a progressive neurodegenerative disorder affecting the elderly population. Inflammatory processes are known to play a role in the pathogenesis of AD and interleukin-1 (IL-1) is an important cytokine in this process. The effects of IL-1 are mediated through Interleukin-1 Receptor Type 1 (IL1R1) and Interleukin-1 Receptor Type 2 (IL1R2). In this study, we aimed to investigate the association of certain polymorphisms in IL1R1 and IL1R2 genes with the risk of AD in the Turkish population. The study included 93 AD patients and 102 healthy controls for IL1R1 rs2234650 polymorphism and 96 AD patients and 103 healthy controls for IL1R2 rs4141134 polymorphism. After DNA isolation, genotyping was performed using PCR and restriction enzyme digestion methods and genotype and allele frequencies were compared. Statistical analyses were performed by binary regression analysis in MINITAB 16.1 software. The results showed that IL1R1 and IL1R2 gene polymorphisms were not significantly associated with the risk of AD in the Turkish population. However, it was determined that carriage of the T allele in the IL1R1 rs2234650 polymorphism, either in the homozygous (TT) or heterozygous (CT) state, may lead to an increased risk of developing Alzheimer's disease. These findings may suggest that these specific polymorphisms do not play a major role in the pathogenesis of AD or that different genetic or environmental factors may be more effective in the Turkish population. Future studies could shed more light on this issue by examining wider genetic variations and different populations.

Keywords

• Alzheimer's Disease
• Genetic Polymorphism
• IL1R1
• IL1R2
• RFLP

Türk Popülasyonunda Alzheimer Hastalığı ile IL1R1 ve IL1R2 Gen Polimorfizmlerinin İlişkisi

Abstract

Alzheimer hastalığı (AH), yaşlı popülasyonu etkileyen ilerleyici bir nörodejeneratif hastalıktır. İnflamatuvar süreçlerin AH patogenezinde rol oynadığı bilinmektedir ve interlökin-1 (IL-1) bu süreçte önemli bir sitokindir. IL-1'in etkileri, İnterlökin-1 Reseptör Tip 1 (IL1R1) ve İnterlökin-1 Reseptör Tip 2 (IL1R2) aracılığıyla gerçekleşir. Bu çalışmada, Türk popülasyonunda IL1R1 ve IL1R2 genlerindeki belirli polimorfizmlerin AH riski ile ilişkisini araştırmayı amaçladık. Çalışmaya, IL1R1 rs2234650 polimorfizmi için 93 AH hastası ve 102 sağlıklı kontrol; IL1R2 rs4141134 polimorfizmi için ise 96 AH hastası ve 103 sağlıklı kontrol grubu dahil edilmiştir. DNA izolasyonu sonrası PCR ve restriksiyon enzimi ile kesim yöntemleri kullanılarak genotiplendirme yapılmış ve genotip ile alel frekansları karşılaştırılmıştır. İstatistiksel analizler MINITAB 16.1 yazılımında binary regression analizi ile gerçekleştirilmiştir. Elde edilen sonuçlar, incelenen IL1R1 ve IL1R2 gen polimorfizmlerinin Türk popülasyonunda AH riski ile anlamlı bir ilişki göstermemiştir. Ancak IL1R1 rs2234650 polimorfizminde T alelinin homozigot (TT) veya heterozigot (CT) olarak taşınmasının Alzheimer hastalığı riskini artırabileceği tespit edilmiştir. Bu bulgular, AH patogenezinde bu spesifik polimorfizmlerin majör bir rol oynamadığı veya Türk popülasyonunda farklı genetik veya çevresel faktörlerin daha etkili olabileceği şeklinde yorumlanabilir. Gelecekteki çalışmalar, daha geniş genetik varyasyonları ve farklı popülasyonları inceleyerek bu konuya daha fazla ışık tutabilir.

Keywords

• Alzheimer Hastalığı
• Genetik Polimorfizm
• IL1R1
• IL1R2
• RFLP

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