Alerjik rinitli hastalarda HIF1A geni polimorfizmlerinin araştırılması

Yıl 2025, Cilt: 3 Sayı: 1, 13 - 18, 01.02.2025

Bünyamin Yaşar , Hüseyin Günizi , Durkadın Demir Ekşi

https://doi.org/10.61845/agrimedical.1619321

Öz

Amaç:
Alerjik rinit (AR), çevresel alerjenlere karşı IgE aracılı aşırı duyarlılık nedeniyle gelişen kronik inflamatuar bir hastalıktır. Türkiye'de AR prevalansı %11,8 ile %36,4 arasında değişmektedir. Hipoksi ile İndüklenebilir 1-Alfa (HIF1A) geni, hipoksi ve inflamasyonla ilişkili yolların önemli bir rol oynar ve bu genin polimorfizmleri, çeşitli inflamatuar hastalıklarla ilişkilendirilmiştir. Bu çalışma, HIF1A genindeki C1772T ve C111A polimorfizmlerinin AR ile ilişkisinin araştırılmasını amaçlamıştır.
Materyal ve Method:
Çalışmaya 100 AR hastası ve 100 sağlıklı kontrol dahil edilmiştir. Tek Nükleotid Polimorfizmi (SNP) analizleri, PCR-RFLP kullanılarak yapılmış ve Sanger dizileme ile doğrulanmıştır. Serum total IgE seviyeleri ölçülmüş ve hastalar, hastalık şiddeti ve süresine göre sınıflandırılmıştır. Genotip bulguları, hastaların klinik özellikleriyle karşılaştırılmıştır.
Bulgular:
C111A polimorfizmi, hasta ve kontrol gruplarında homozigot yabanıl tip (CC) olarak bulunmuştur. C1772T polimorfizmi ise genotip ve alel frekansı açısından hasta ve kontrol gruplarında anlamlı fark göstermemiştir. Alt grup analizlerinde de fark bulunmamıştır.
Sonuç:
Bu çalışma, HIF1A genindeki bu iki polimorfizmin Türk popülasyonunda AR gelişimiyle ilişkili olmadığını göstermiştir. Ancak literatürde HIF1A mRNA ve protein seviyelerinin AR üzerindeki etkileri gösterilmiştir. Genetik ve çevresel faktörler nedeniyle sonuçların popülasyonlar arasında farklılık gösterebileceği bilinmektedir. HIF1A genindeki alternatif polimorfizmler ve ekspresyon seviyelerinin incelenmesi ile AR ve HIF1A ilişkisinin daha iyi anlaşılabileceği sonucuna varılmıştır.

Anahtar Kelimeler

Alerjik Rinit, Hipoksi ile İndüklenebilir 1-Alfa, Tek Nükleotid Polimorfizmi

Proje Numarası

2021-04-01-LTP02

Investigation of HIF1A gene polymorphisms in patients with allergic rhinitis

Öz

Aim:
Allergic rhinitis (AR) is a chronic inflammatory disease caused by IgE-mediated hypersensitivity to environmental allergens. In Türkiye, AR prevalence ranges between 11.8% and 36.4%. The Hypoxia Inducible Factor 1 Subunit Alpha (HIF1A) gene plays a significant role in hypoxia and inflammation-related pathways, and its polymorphisms have been associated with various inflammatory diseases. This study aimed to investigate the association of C1772T and C111A polymorphisms in the HIF1A gene with AR.
Material and Methods:
The study included 100 AR patients and 100 healthy controls. Single Nucleotide Polymorphism (SNP) analyses were performed using PCR-RFLP and validated by Sanger sequencing. Serum total IgE levels were measured, and patients were classified based on disease severity and duration. Genotype findings were compared with patients' clinical features.
Results:
The C111A SNP was non-polymorphic in both groups, as all individuals had the wild-type CC genotype. The C1772T SNP showed no significant differences in genotype or allele frequencies between patients and controls. Similarly, no significant associations were observed in patient subgroups stratified by disease severity, frequency, or serum IgE levels.
Conclusion:
This study demonstrated that these two polymorphisms in the HIF1A gene are not associated with AR development in the Turkish population. However, the literature indicates that HIF1A mRNA and protein levels affect AR. Results may vary due to genetic and environmental factors. Further studies investigating alternative polymorphisms in the HIF1A gene and its expression levels are needed to better understand the relationship between AR and HIF1A.

Anahtar Kelimeler

Allergic Rhinitis, Hypoxia Inducible Factor 1 Subunit Alpha, Single Nucleotide Polymorphism

Etik Beyan

Ethical approval was obtained from the Alanya Alaaddin Keykubat University Clinical Research Ethics Committee (Approval No: 11-03, dated 23.06.2021). Informed consent was obtained from all participants.

Destekleyen Kurum

Alanya Alaaddin Keykubat University

Proje Numarası

2021-04-01-LTP02

Kaynakça

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