Two Hypoxia Sensor Genes and Their Association with Symptoms of Acute Mountain Sickness in Sherpas

Droma, Yunden; Ôta, Masao; Hanaoka, Masayuki; Katsuyama, Yoshihiko; Basnyat, Buddha; Neupane, Pritam; Arjyal, Amit; Pandit, Anil; Sharma, Dependra; Ito, Michiko; Kubo, Keishi

doi:10.3357/asem.2361.2008

Cited by 19 publications

(12 citation statements)

References 8 publications

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“…Second, our controls were recruited from the hospital, so we could not exclude the inherent selection bias for any particular genotype. However, the genotype distributions of the controls in our study were similar to distributions reported to as typical for Asian population in other studies and conformed to Hardy-Weinberg Equilibrium (Droma et al, 2008;Qin et al, 2011). Third, ethnic variation is known to be a major risk for PCa.…”

Section: Discussionsupporting

confidence: 81%

Association Between VHL Single Nucleotide Polymorphism (rs779805) and the Susceptibility to Prostate Cancer in Chinese

Chen

Shao

et al. 2012

DNA and Cell Biology

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The Von Hippel-Lindau (VHL) tumor suppressor gene is a crucial regulator of the hypoxia response pathway and plays an important role in tumorigenesis, particularly in tumor growth and vascularization. We hypothesize that polymorphisms in the functional region of VHL may influence susceptibility to prostate cancer (PCa). We genotyped a potentially functional polymorphism (rs779805) in 5' UTR region of VHL in a case-control study of 665 PCa patients and 715 cancer-free controls in a Chinese population using the Taqman assay. The genetic associations between the incidence and progression of PCa were assessed by logistic regression. We observed that the rs779805 A>G polymorphism was significantly associated with risk for PCa. Compared with the AA genotype, the AG and AG/GG genotypes were associated with decreased risk of PCa (adjusted odds ratio [OR]=0.79, 95% confidence interval [CI]=0.62-0.99, and adjusted OR=0.76, 95% CI=0.61-0.95, respectively). Further, this decreased risk was more pronounced in the subgroups of nonsmokers (OR=0.73, 95% CI=0.54-0.98), nondrinkers (OR=0.70, 95% CI=0.54-0.91) and patients without family history of cancer (OR=0.72, 95% CI=0.57-0.92). In addition, the decreased risk associated with rs779805 variant genotypes (AG/GG) was more pronounced among the prostate specific antigen (PSA)>20 ng/mL subgroup (OR=0.68, 95% CI=0.49-0.95). Our findings suggest that the rs779805 A>G polymorphism in VHL may confer susceptibility to PCa in the Chinese population.

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Section: Discussionsupporting

confidence: 81%

Association Between VHL Single Nucleotide Polymorphism (rs779805) and the Susceptibility to Prostate Cancer in Chinese

Chen

Shao

et al. 2012

DNA and Cell Biology

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“…Several groups have reported AMS susceptibility related to SNP variants (Droma et al, 2008), while others have reported no association (Dehnert et al, 2002;Koehle et al, 2006). Therefore, it remains a challenge to determine which genes and genetic determinants are actually involved in the development of AMS.…”

Section: Introductionmentioning

confidence: 96%

“…A large number of candidate genes have been associated with AMS susceptibility, including the angiotensin-converting enzyme (ACE), angiotensin II (Ang II) type 1 receptor, beta-2 adrenergic receptor, bradykinin receptor-B2, heat shock protein 70, endothelial nitric oxide synthase, hypoxia-inducible factor 1 alpha, and vascular endothelial growth factor (Dehnert et al, 2002;Zhou et al, 2005;Koehle et al, 2006;Wang et al, 2007;Droma et al, 2008;Kalson et al, 2009;Buroker et al, 2010;Hennis et al, 2010;Ding et al, 2011). Several groups have reported AMS susceptibility related to SNP variants (Droma et al, 2008), while others have reported no association (Dehnert et al, 2002;Koehle et al, 2006).…”

Section: Introductionmentioning

confidence: 98%

The Association of Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphisms with Acute Mountain Sickness Susceptibility: A Meta-Analysis

Luo

Chen²,

Zhang³

et al. 2012

High Altitude Medicine & Biology

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Altitude exposure in nonacclimatized subjects may lead to acute mountain sickness (AMS). AMS is defined as headache upon recent arrival to altitude and may be accompanied by loss of appetite, nausea or vomiting, dizziness, fatigue, and poor sleep. Susceptibility for AMS varies and has been linked to angiotensin-converting enzyme (ACE) gene polymorphisms. We performed a meta-analysis of studies to assess the association between the ACE deletion (D) and insertion (I) alleles and AMS from published data. A fixed effects model was applied and study quality was assessed in duplicate. Five studies with a total of 333 AMS cases and 373 healthy controls were assessed. Our results revealed no significant differences in risk for AMS between carriers of ACE deletion and insertion polymorphism alleles.

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“…However, their study did not reveal such an association. Maybe another set of genes, or genetic mechanisms determines the susceptibility of individuals to high altitude (Droma et al, 2008). Diet and oral antioxidant supplements may have a role in the body's response to high altitude.…”

Section: High Altitude Related Oxidative Stress and Antioxidant Defenmentioning

confidence: 99%

Effects of High Altitude Related Oxidative Stress on Intraocular Pressure and Central Corneal Thickness – A Research Model for the Etiology of Glaucoma

Karaküçük¹

2011

Glaucoma - Basic and Clinical Concepts

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Two Hypoxia Sensor Genes and Their Association with Symptoms of Acute Mountain Sickness in Sherpas

Abstract: These genetic variants of HIF1A and VHL are not associated with AMS symptoms that occur in Sherpas at extremely high altitudes. It seems unlikely that HIF1A and VHL are associated with hypoxic sensing sensitivity in Sherpas.

Cited by 19 publications

References 8 publications

Association Between VHL Single Nucleotide Polymorphism (rs779805) and the Susceptibility to Prostate Cancer in Chinese

Association Between VHL Single Nucleotide Polymorphism (rs779805) and the Susceptibility to Prostate Cancer in Chinese

The Association of Angiotensin-Converting Enzyme Gene Insertion/Deletion Polymorphisms with Acute Mountain Sickness Susceptibility: A Meta-Analysis

Effects of High Altitude Related Oxidative Stress on Intraocular Pressure and Central Corneal Thickness – A Research Model for the Etiology of Glaucoma

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