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Journals / Türk Biyokimya Dergisi / 2016 / Cilt: 41 - Sayı: 5

Hemoglobin seviyesi yüksek bireylerde hipoksi ile indüklenen faktör-1 alfa (HIF-1?) gen polimorfizminin araştırılması

Investigation of hypoxia-inducible factor-1alpha (HIF-1?) gene polymorphisms in individuals with high levels of hemoglobin

Muhammet Yusuf TEPEBAŞI
Mustafa CALAPOĞLU
Nilüfer Şahin CALAPOĞLU
Pages
354–361
Publication Date
2022-11-03
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: Our results suggest that the HIF-1?

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: A classic physiologic response to systemic hypoxia is the increase in red blood cell production.
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Key Findings & Data:Hypoxia-inducible factors (HIFs) orchestrate oxygen-sensing machinery and hypoxic cell metabolism.
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Conclusion & Impact:Conclusion: Our results suggest that the HIF-1?
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: A classic physiologic response to systemic hypoxia is the increase in red blood cell production. Hypoxia-inducible factors (HIFs) orchestrate oxygen-sensing machinery and hypoxic cell metabolism. Recent works suggest that mutation of the HIF oxygen-sensing pathway plays a key role in the pathogenesis of the erythrocytosis. In the present study, the probable role of the polymorphic HIF-1? variants, C1772T (P582S) (rs11549465) and G1790A (A588T) (rs115494657), which are known to enhance transcriptional activity, were evaluated in the etiology of the polycythemia.Methods: A total of 284 subjects 97 with normal levels of hemoglobin (Hgb) 157 with high levels of Hgb, and 30 with polycythemia vera (PV)) were recruited for this study. Genomic DNA was extracted from peripheral blood lymphocytes of all subjects. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was performed for HIF-1? C1772T and G1790A single nucletide polymorphisms (SNP). A complete blood count was performed for all subjects.Results: There was a significant decrease in the frequency of the HIF-1? C1772T allele T in subjects with PV compared with those in the normal level Hgb group (OR 0.51; 95% CI 0.75-0.95; p=0.03). High level Hgb subjects had a significantly higher frequency of the HIF-1? G1790A allele A (OR 10.79; 95% CI 0.62-; 187.96; p=0.027) than the subjects in the normal level Hgb group. A significant difference was observed in genotype distribution of GG and combined GA+AA genotypes of HIF-1? G1790A in PV and normal Hgb level subjects (OR 17.11; 95% CI 0.80-366,61; p>0.05). Conclusion: Our results suggest that the HIF-1? C1772T and G1790A polymorphisms may be associated with PV in the study population.

Özet

Amaç: Sistemik hipoksiye karşı klasik fizyolojik cevap kırmızı kan hücresi üretimindeki artıştır. Hipoksi ile İndüklenebilir Faktörler (HIFs), oksijen-duyarlılık mekanizmasını ve hipoksik hücre metabolizmasını düzenlemektedirler. Son yıllardaki çalışmalar, HIF oksijen-duyarlılık yolağındaki mutasyonların eritrositozun patogenezinde anahtar rol oynadığını göstermektedir. Bu çalışmada, transkripsiyonel aktiviteyi artırdığı bilinen, polimorfik HIF-1? varyantlarının, C1772T (P582S) (rs11549465) ve G1790A (A588T) (rs11549467), polisitemi etiyolojisindeki muhtemel rolü araştırıldı.Metod: Normal hemoglobin (Hgb) seviyeli 97 birey, yüksek Hgb seviyeli 157 birey ve polisitemi veralı (PV) 30 birey olmak üzere toplam 284 birey çalışmaya dahil edildi. Genomik DNA örnekleri periferal kan lökositlerinden standart yönteme gore izole edildi. HIF-1? C1772T ve G1790A tek nükleotid polimorfizmleri için polimeraz zincir reaksiyonu-parça uzunluk polimorfizmi (PCRRFLP) metodu uygulandı. Tüm bireyler için tam kan sayımı yapıldı.Bulgular: PV'li ve normal Hgb seviyesine sahip guruplar karşılaştırıldığında PV'li gurupta HIF-1? C1772T için T allelinin anlamlı olarak artmış olduğu (OR 0,51; %95 CI 0,75-0,95; p=0,03), normal Hgb sahip gurupla yüksek Hgb sahip guruplar karşılaştırıldığında ise HIF-1? G1790A için A allelinin anlamlı olarak yüksek olduğunu bulundu (OR 10,79; %95 CI 0,62-; 187,96; p=0,027 ). HIF-1? G1790A polimorfizmi açısından PV ve normal Hgb seviyeli grupta GG ve kombine GA+AA genotiplerinde anlamlı farklılık gözlendi (OR 17,11; %95 CI 0,80-366,61; p

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Cite This Article

TEPEBAŞI, M. Y., CALAPOĞLU, M., CALAPOĞLU, N. Ş. (2022). Hemoglobin seviyesi yüksek bireylerde hipoksi ile indüklenen faktör-1 alfa (HIF-1?) gen polimorfizminin araştırılması. Türk Biyokimya Dergisi, Cilt: 41 - Sayı: 5, 354–361. https://ajindex.com/articles/621080

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