Πλοήγηση ανά Θέμα "Alleles"

Analysis of ADORA2A rs5760423 and CYP1A2 rs762551 Genetic Variants in Patients with Alzheimer’s Disease

Siokas V., Mouliou D.S., Liampas I., Aloizou A.-M., Folia V., Zoupa E., Papadimitriou A., Lavdas E., Bogdanos D.P., Dardiotis E. (2022)

Various studies have been conducted, exploring the genetic susceptibility of Alzheimer’s disease (AD). Adenosine receptor subtype A2a (ADORA2A) and cytochrome P450 1A2 (CYP1A2) are implicated in pathways such as oxidative ...

Apolipoprotein ϵ4 allele is associated with frailty syndrome: Results from the hellenic longitudinal investigation of ageing and diet study

Mourtzi N., Ntanasi E., Yannakoulia M., Kosmidis M., Anastasiou C., Dardiotis E., Hadjigeorgiou G., Sakka P., Scarmeas N. (2019)

Apolipoprotein (APOE) ϵ4 allele has been associated with a number of age-related diseases but previous studies failed to identify any link with Frailty syndrome. The aim of the present study is to investigate the association ...

Association of maternal Toll-like receptor-4 alleles with susceptibility to early-onset preeclampsia in central Greece

Vamvakopoulou D.N., Satra M., Fegga A., Kourti M., Sidiropoulos A., Daponte A., Gounaris A., Syrogianopoulos G., Vamvakopoulos N.C., Sotiriou S. (2019)

Introduction: Altered maternal inflammatory responses may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form and intrauterine growth restriction. We ...

BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm

Siokas V., Kardaras D., Aloizou A.-M., Asproudis I., Boboridis K.G., Papageorgiou E., Hadjigeorgiou G.M., Tsironi E.E., Dardiotis E. (2019)

A few genetic variants are implicated in the development of blepharospasm (BSP). The precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP remains controversial. The effect of rs6265 on BSP ...

BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects

Apostolou P., Fostira F., Kouroussis C., Kalfakakou D., Delimitsou A., Agelaki S., Androulakis N., Christodoulou C., Kalbakis K., Kalykaki A., Sanidas E., Papadimitriou C., Vamvakas L., Georgoulias V., Mavroudis D., Yannoukakos D., Konstantopoulou I., Saloustros E. (2020)

Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ...

Complete exon 2 sequence of the HLA-DPA1*03:01 allele by sequence-based typing

Sarri C.A., Markantoni M., Hadjichristodoulou C., Mamuris Z. (2016)

The contribution of genetic variants of SLC2A1 gene in t2dm and T2DM-nephropathy: Association study and meta-analysis

Stefanidis I., Tziastoudi M., Tsironi E.E., Dardiotis E., Tachmitzi S.V., Fotiadou A., Pissas G., Kytoudis K., Sounidaki M., Ampatzis G., Mertens P.R., Liakopoulos V., Eleftheriadis T., Hadjigeorgiou G.M., Santos M., Zintzaras E. (2018)

An association study was conducted to investigate the relation between 14 variants of glucose transporter 1 gene (SLC2A1) and the risk of type 2 diabetes (T2DM) leading to nephropathy. We also performed a meta-analysis of ...

Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?

Germenis A.E., Vatsiou S., Csuka D., Zamanakou M., Farkas H. (2021)

[No abstract available]

Drug-Induced Skin Adverse Reactions: The Role of Pharmacogenomics in Their Prevention

Gerogianni K., Tsezou A., Dimas K. (2018)

Adverse drug reactions (ADRs) affect many patients and remain a major public health problem, as they are a common cause of morbidity and mortality. It is estimated that ADRs are responsible for about 6% of hospital admissions ...

Embryological results of couples undergoing ICSI-ET treatments with males carrying the single nucleotide polymorphism rs175080 of the MLH3 gene

Anifandis G., Markandona O., Dafopoulos K., Messini C., Tsezou A., Dimitraki M., Georgoulias P., Daponte A., Messinis I. (2017)

Human MLH3 (hMLH3) gene has been suggested to play a role in the DNA mismatch repair mechanism, while it may also be associated with abnormal spermatogenesis and subsequently male infertility. The aim of the present study ...

Extending the clinical phenotype associated with biallelic NTHL1 germline mutations

Fostira F., Kontopodis E., Apostolou P., Fragkaki M., Androulakis N., Yannoukakos D., Konstantopoulou I., Saloustros E. (2018)

[No abstract available]

Genetic polymorphisms of FAS and EVER genes in a Greek population and their susceptibility to cervical cancer: A case control study

Pavlidou E., Daponte A., Egea R., Dardiotis E., Hadjigeorgiou G.M., Barbadilla A., Agorastos T. (2016)

Background: The aim of the study was to evaluate the association of two SNPs of EVER1/2 genes' region (rs2290907, rs16970849) and the FAS-670 polymorphism with the susceptibility to precancerous lesions and cervical cancer ...

Genetic spatiotemporal anatomy of plasmodium vivax malaria episodes in Greece, 2009–2013

Spanakos G., Snounou G., Pervanidou D., Alifrangis M., Rosanas-Urgell A., Baka A., Tseroni M., Vakali A., Vassalou E., Patsoula E., Zeller H., Van Bortel W., Hadjichristodoulou C., MALWEST Project (2018)

An influx of immigrants is contributing to the reemergence of Plasmodium vivax malaria in Greece; 1 persistent focus of transmission is in Laconia, Pelopónnese. We genotyped archived blood samples from a substantial ...

Genetics of Hereditary Angioedema Revisited

Germenis A.E., Speletas M. (2016)

Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ...

HLA class II peptide-binding-region analysis reveals funneling of polymorphism in action

Sarri C.A., Giannoulis T., Moutou K.A., Mamuris Z. (2021)

Background: HLA-class II proteins hold important roles in key physiological processes. The purpose of this study was to compile all class II alleles reported in human population and investigate patterns in pocket variants ...

Identification of the novel HLA-DRB1*11:192 allele by sequence-based typing in Greece

Sarri C.A., Markantoni M., Hadjichristidoulou C., Mamuris Z. (2016)

Influence of a CYP1A2 polymorphism on post-exercise heart rate variability in response to caffeine intake: a double-blind, placebo-controlled trial

Thomas R.M., Algrain H.A., Ryan E.J., Popojas A., Carrigan P., Abdulrahman A., Carrillo A.E. (2017)

Background: Proposed differences in caffeine metabolism due to the CYP1A2*1F polymorphism have been linked to variations in cardiovascular disease risk. Aims: We examined the influence of a CYP1A2*1F polymorphism on ...

Interleukin gene polymorphisms and susceptibility to HIV-1 infection: a meta-analysis

Tsiara C.G., Nikolopoulos G.K., Dimou N.L., Pantavou K.G., Bagos P.G., Mensah B., Talias M., Braliou G.G., Paraskeva D., Bonovas S., Hatzakis A. (2018)

Some subjects are repeatedly exposed to human immunodeficiency virus (HIV), yet they remain uninfected. This suggests the existence of host-resistance mechanisms. The current study synthesizes the evidence regarding the ...

Islands and hybrid zones: Combining the knowledge from "natural Laboratories" to explain phylogeographic patterns of the European brown hare 06 Biological Sciences 0604 Genetics

Giannoulis T., Plageras D., Stamatis C., Chatzivagia E., Tsipourlianos A., Birtsas P., Billinis C., Suchentrunk F., Mamuris Z. (2019)

Background: The aim of the study was to use hybrid populations as well as island populations of the European brown hare (Lepus europaeus) to explore the effect of evolutionary events, such as the post-deglaciation ...

Large-scale replication and heterogeneity in Parkinson disease genetic loci

Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Van Broeckhoven, C.; Bertram, L.; Bozi, M.; Crosiers, D.; Clarke, C.; Facheris, M.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilariño-Güell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R. (2012)

Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...