The Hif1a Gene Pro582ser Polymorphism in Polish Power-Orientated Athletes

Cięszczyk, Paweł; Eider, Jerzy; Arczewska, Aleksandra; Ostanek, Magdalena; Leońska-Duniec, Agata; Sawczyn, Stanisław; Ficek, Krzysztof; Jascaniene, Nijole; Kotarska, Katarzyna; Sygit, Katarzyna

doi:10.5604/945117

Cited by 28 publications

(28 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…highly elite (25.0%)). These results were replicated in three cohorts of 158 Polish power-orientated athletes [218], 208 Russian power-oriented athletes (122 weightlifters and 86 wrestlers) [219], and 110 Ukrainian power-oriented athletes [220], but not in 81 Israeli sprinters [221]. Furthermore, the 582Ser allele was significantly associated with an increased proportion of fast-twitch muscle fibers in m. vastus lateralis of all-round speed skaters [217].…”

Section: Hif1a 582ser Allelesupporting

confidence: 61%

Current Progress in Sports Genomics

Ahmetov

Fedotovskaya

2015

Advances in Clinical Chemistry

148

138

View full text Add to dashboard Cite

Section: Hif1a 582ser Allelesupporting

confidence: 61%

Current Progress in Sports Genomics

Ahmetov

Fedotovskaya

2015

Advances in Clinical Chemistry

148

138

View full text Add to dashboard Cite

“…Memeli hücrelerinde, oksijen homeostazisi, transkripsiyon faktörü hipoksi-indüklenebilir faktör-1 (HIF-1) ile düzenlenir. HIF-1, oksijen ve besinlerin verilmesinde rol oynayan düşük oksijen gerginliği (anjiyogenez, glukoz, metabolizması, glikoz taşınması, vazomotor kontrol ve eritropoiezde yer alan genler dahil) hücrelere veya bu substratların hücresel kullanımını kontrol etmek için hücre adaptasyonu sağlayan genlerin ekspresyonunu düzenler [97]. Bazı kanıtlar, kasdaki lokal hipoksinin ortaya çıkmasının egzersiz sırasında miyosit içindeki oksijen basıncında bir düşüşe neden olduğunu göstermektedir.…”

Section: Hypoxia İnducible Factor 1α (Hif1a)unclassified

Atletik Performans ve Spor Genetiği

Dinç

Gökmen

2019

Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi

View full text Add to dashboard Cite

Öz Günümüzde spora amatör veya profesyonel katılım arttıkça sportif performans ve bu performansı etkileyen faktörlerin önemi de artmaktadır. Sporda genetik altyapı özellikle kuvvet, dayanıklılık, kas kitlesi, kas liflerinin tipi ve oranları ile akciğer kapasitesi üzerinde büyük etki göstermektedir. Spor genetiği çalışmaları, atletik performansa etki eden genlerin belirlenmesi, etki mekanizmalarının aydınlatılması ve atletik performansına olan yatkınlıklarının belirlenmesi alanlarındaki çalışmaların bütününü kapsamaktadır. Atletik performansla ilişkilendirilebilecek genlere örnek olarak; myostatin, eritropoetin, büyüme hormonu, nitrik oksit sentaz, vasküler endotelyal büyüme faktörü, anjiotensin dönüştürücü enzim, anjiotensinojen, monokarboksilat taşıyıcı 1, insüline benzer büyüme faktörü-1, peroksizom proliferatör aktif reseptör, alfa-aktinin-3 gibi genlerini sıralayabiliriz. Bu çalışmanın amacı ise spor bilimlerinde ve sporcu performansında etkili olan genleri incelemektir.

show abstract

“…Because the cardiovascular system subsequently influences human body performance, HIF1A variations have been associated with the following performance related phenotypes: maximal oxygen consumption, adaptation to living at high altitude, lumbar disc degeneration, idiopathic osteonecrosis of the femoral head, power‐oriented athlete performance and muscle activity, endurance status, and symptom‐limited exercise test duration over time (rs113182457, rs10873142, rs11549465, rs11549467, rs1535679, rs1957757 and rs1957755, rs2057482, and rs28708675). Some polymorphisms were also associated with other phenotypes such as systemic sclerosis (rs12434438), acute kidney injury (rs11549465), cellulite (rs11549465), and chronic obstructive pulmonary disease (rs11549465).…”

Section: Hif1a and Association With Other Phenotypes And Diseasesmentioning

confidence: 99%

HIF1A gene polymorphisms and human diseases: Graphical review of 97 association studies

Gladek

Ferdin

Horvat

et al. 2017

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

Hypoxia-inducible factors (HIFs) belong to a family of transcription factors (TF) responsive to a low O2 availability, which is often a characteristic feature of solid tumors. The alpha subunit of the HIF heterodimer is O2-sensitive, and once stabilized in hypoxia, it functions as a master regulator of various genes involved in hypoxia pathway. Changes in the HIF1A (hypoxia inducible factor 1, alpha subunit) nucleotide sequence or expression has been shown to be associated with development of several diseases. Due to increasing research interest in HIF1A gene a review of association studies was needed. We here reviewed published data on single nucleotide polymorphisms (SNPs) in HIF1A in various diseases; in total, 34 SNPs were tested for an association with 49 phenotypes, and the results were visualized using the Cytoscape software. Among all collected polymorphisms 16 SNPs showed significant associations with 40 different phenotypes, including six SNPs associated with 14 cancer types. Missense SNPs (rs11549465 and rs11549467) within the oxygen-dependent degradation domain were most frequently studied. The study provides a comprehensive tool for researchers working in this area and may contribute to more accurate disease diagnosis and identification of therapeutic targets.

show abstract

The Hif1a Gene Pro582ser Polymorphism in Polish Power-Orientated Athletes

Cited by 28 publications

References 0 publications

Current Progress in Sports Genomics

Current Progress in Sports Genomics

Atletik Performans ve Spor Genetiği

HIF1A gene polymorphisms and human diseases: Graphical review of 97 association studies

Contact Info

Product

Resources

About