HFE p.C282Y gene variant is associated with varicose veins in Russian population

Соколова, Е. А.; Shadrina, Alexandra S.; Sevost'ianova, Kseniya; Шевела, А. И.; Soldatsky, E. Yu.; Селиверстов, Е. И.; Demekhova, M. Yu.; Shonov, Oleg A; Ilyukhin, E. A.; Сметанина, М. А.; Воронина, Е. Н.; Золотухин, И. А.; Филипенко, М. Л.

doi:10.1007/s10238-015-0377-y

Cited by 17 publications

(24 citation statements)

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“…Association with red blood cell traits is intriguing. Hypothetically, both erythrocyte homeostasis and VVs could be linked to iron overload 19,20 . It is noteworthy that association between hemochromatosis-related functional variant in the HFE gene and primary VVs was revealed in our previous candidate-gene study in ethnic Russian individuals 19 .…”

Section: Resultsmentioning

confidence: 99%

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Varicose veins of lower extremities: insights from the first large-scale genetic study

Shadrina

Sharapov

Shashkova

et al. 2018

Preprint

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27Varicose veins of lower extremities (VVs) are a common multifactorial vascular disease. 28Genetic factors underlying VVs development remain largely unknown. Here we report the first 29 large-scale study of VVs performed on a freely available genetic data of 408,455 European-30 ancestry individuals. We identified 7 reliably associated loci that explain 10% of the SNP-based 31 heritability, and prioritized the most likely causal genes CASZ1, PPP3R1, EBF1, STIM2, and 32 HFE. Genetic correlation analysis confirmed known epidemiological associations and found 33 genetic overlap with various traits including fluid intelligence score, educational attainment, 34 smoking, and pain. Finally, we observed causal effects of height, weight, both fat and fat-free 35 mass, and plasma levels of MICB and CD209 proteins. 36All rights reserved. No reuse allowed without permission.(which was not peer-reviewed) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity.The copyright holder for this preprint . http://dx.doi.org/10.1101/368365 doi: bioRxiv preprint first posted online Jul. 13, 2018; 3 Varicose veins (VVs) are one of the clinical manifestations of chronic venous disease 37 posing both a cosmetic and medical problem. VVs can be found in different parts of the body, 38 but most commonly occur in the lower extremities. Prevalence estimates of this condition vary 39 across ethnic groups ranging from 2-4% in the Northern group of the Cook Islands to 50-60% in 40 some countries of the Western world 1 The cumulative evidence from epidemiological, family, and genetic association studies 52 strongly indicates that there is a hereditary component in VVs etiology [6][7][8] . However, despite 53 progress in this field [9][10][11][12] , current knowledge of the genetic basis of this pathology is far from 54 being complete. Elucidating genes involved in susceptibility to VVs would help to identify key 55 molecular players in the disease initiation, provide deeper insights into its pathogenesis, and 56 eventually contribute to development of improved targeted therapy aimed at VVs treating and 57 preventing. 58Large-scale biobanks linked to electronic health records open up unparalleled opportunities 59 to investigate the genetics of complex traits. Today, UK Biobank is the largest repository that 60 contains information on genotypes and phenotypes for half a million participating individuals 13 . 61This resource is open to all bona fide researchers, and access to data is provided upon approval 62All rights reserved. No reuse allowed without permission.(which was not peer-reviewed) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity.The copyright holder for this preprint . http://dx.doi.org/10.1101/368365 doi: bioRxiv preprint first posted online Jul. 13, 2018; 4 of their application and payment of necessary costs. However, the need to incur high costs 63 related to data access and computation can be an insurmountable obstacle for those...

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Section: Resultsmentioning

confidence: 99%

“…Other prioritized genes were PPP3R1, EBF1, STIM2 , and HFE . The latter gene has been linked to the risk of VVs in our recent candidate-gene study 19 . Meanwhile, we could not prioritize any gene in the locus tagged by rs3101725.…”

Section: Discussionmentioning

confidence: 97%

Varicose veins of lower extremities: insights from the first large-scale genetic study

Shadrina

Sharapov

Shashkova

et al. 2018

Preprint

Self Cite

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“…Several common polymorphisms of the HFE gene, such as C282Y (rs1800562), H63D (rs1799945) and S65C (rs1800730), have been reported [ 18 , 19 ]. Accumulating evidence indicates that HFE mutations are associated with susceptibility to many clinical diseases, such as Parkinson's disease (PD) [ 20 ], primary varicose veins [ 21 ] and coronary heart disease (CHD) [ 22 ].…”

Section: Introductionmentioning

confidence: 99%

Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls

Bian

Yin

et al. 2016

PLoS ONE

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BackgroundConflicting results have been obtained for the association between two common polymorphisms (C282Y, H63D) of human HFE (hereditary hemochromatosis) gene and the risks of the liver diseases, including non-alcoholic fatty liver disease (NAFLD), liver cirrhosis and hepatocellular carcinoma (HCC).MethodsAn updated systematic review and meta-analysis was conducted to evaluate the potential role of HFE polymorphisms in the susceptibility to NAFLD, liver cirrhosis and HCC. After retrieving articles from online databases, eligible studies were enrolled according to the selection criteria. Stata/SE 12.0 software was utilized to perform the statistical analysis.ResultsIn total, 43 articles with 5,758 cases and 14,741 controls were selected. Compared with the control group, a significantly increased risk of NAFLD was observed for the C282Y polymorphism in the Caucasian population under all genetic models and for the H63D polymorphism under the allele, heterozygote and dominant models (all OR>1, Passociation<0.05). However, no significant difference between liver cirrhosis cases and the control group was observed for HFE C282Y and H63D (all Passociation>0.05). In addition, we found that HFE C282Y was statistically associated with increased HCC susceptibility in the overall population, while H63D increased the odds of developing non-cirrhotic HCC in the African population (all OR>1, Passociation<0.05). Moreover, a positive association between compound heterozygosity for C282Y/H63D and the risk of NAFLD and HCC, but not liver cirrhosis, was observed.ConclusionOur meta-analysis provides evidence that the HFE C282Y and H63D polymorphisms confer increased genetic susceptibility to NAFLD and HCC but not liver cirrhosis. Additional well-powered studies are required to confirm our conclusion.

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“…In further agreement with advocating a more individualised approach to management of CVD, the specialists also found consensus on statement 10 regarding the utility of identifying genetic polymorphisms that may affect progression of CVD. Indeed, several polymorphisms have been identified that appear to stratify with disease, notably HFE p.C282Y as well as those in metalloproteases [57][58][59][60]. Other researchers have proposed that a genetic risk score might be useful in distinguishing patients at risk for more severe disease [61].…”

Section: Conservative Therapymentioning

confidence: 99%

Refining diagnosis and management of chronic venous disease: Outcomes of a modified Delphi consensus process

Aloi

Camporese

Izzo

et al. 2019

European Journal of Internal Medicine

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Chronic venous disease (CVD) is a common condition with major health consequences that is associated with poor long-term prognosis, significant socioeconomic impact, disabling symptoms and reduced quality of life. To provide practical guidance for diagnosis and management of CVD, a Delphi panel of 5 experts in steering committee and 28 angiologists/vascular surgeons met with the major aim of providing a supplement for established national and international guidelines. A total of 24 statements were voted upon in two rounds, of which consensus was reached on 22 statements, indicating a high level of overall agreement. Consensus was reached on 7 of 8 statements relative to diagnosis (CEAP classification, diagnostic tools, QoL assessment, diagnostic imaging) and on 15 of 16 statements on management (conservative treatments, compressive therapy, pharmacological therapy, surgical treatment). The results of the consensus reached are discussed herein from which it is clear that diagnostic and management approaches utilising personalised therapies tailored to the individual patient should be favoured. While it is clear that additional studies are needed on many aspects of diagnosis and management of CVD, the present Delphi survey provides some key recommendations for clinicians treating CVD that may be useful in daily practice.

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HFE p.C282Y gene variant is associated with varicose veins in Russian population

Cited by 17 publications

References 46 publications

Varicose veins of lower extremities: insights from the first large-scale genetic study

Varicose veins of lower extremities: insights from the first large-scale genetic study

Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls

Refining diagnosis and management of chronic venous disease: Outcomes of a modified Delphi consensus process

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