Sfoglia per Soggetto "genetic polymorphism"

The 5′ regulatory region of the human fetal globin genes is a gene conversion hotspot

Kalamaras, A.; Chassanidis, C.; Samara, M.; Chiotoglou, I.; Vamvakopoulos, N. K.; Papadakis, M. N.; Kollia, P.; Patrinos, G. P. (2008)

The human fetal globin genes consist of the first mammalian genomic loci for which gene conversion was reported. To date, 14 gene conversions have been described in the human Gγ- and Aγ-globin genes, the vast majority of ...

Apolipoprotein E Polymorphism and Left Ventricular Failure in Beta-Thalassemia: A Multivariate Meta-Analysis

Dimou N.L., Pantavou K.G., Bagos P.G. (2017)

Apolipoprotein E (ApoE) is potentially a genetic risk factor for the development of left ventricular failure (LVF), the main cause of death in beta-thalassemia homozygotes. In the present study, we synthesize the results ...

Aspects of hereditary angioedema genotyping in the era of NGS: The case of F12 gene [Wybrane aspekty genotypowania wrodzonego obrzȩku naczynioruchowego w erze NGS: Gen F12]

Vatsiou S., Zamanakou M., Loules G., González-Quevedo T., Porȩbski G., Juchacz A., Bova M., Suffritti C., Firinu D., Csuka D., Manousakis E., Valerieva A., Staevska M., Magerl M., Farkas H., Germenis A.E. (2018)

Objective. To screen a cohort of patients diagnosed with non-FXII angioedema for carriage of variants of F12 gene. Material and methods. DNA samples from 191 patients suffering from primary angioedema with normal C1-INH, ...

Assessment of TREM2 rs75932628 variant’s association with Parkinson’s disease in a Greek population and Meta-analysis of current data

Dardiotis E., Rikos D., Siokas V., Aloizou A.-M., Tsouris Z., Sakalakis E., Brotis A.G., Bogdanos D.P., Hadjigeorgiou G.M. (2021)

Background: Α number of genetic variants are considered to confer susceptibility to Parkinson’s disease (PD). Rs75392628 (R47H), a rare variant of TREM2 gene, has been linked to PD, although its role on PD remains conflicting. ...

Association between TLR2/TLR4 gene polymorphisms and COPD phenotype in a Greek cohort [Assoziation zwischen TLR2-/TLR4-Gen-Polymorphismen und COPD-Phänotyp]

Apostolou A., Kerenidi T., Michopoulos A., Gourgoulianis K.I., Noutsias M., Germenis A.E., Speletas M. (2017)

Background: Considering that the innate immune system plays a pivotal role in the pathogenesis of chronic obstructive pulmonary disease (COPD), we hypothesized that functional single-nucleotide polymorphisms (SNPs) of ...

Association of codon 72 polymorphism of p53 with the severity of cervical dysplasia, E6-T350G and HPV16 variant lineages in HPV16-infected women

Moschonas G.D., Tsakogiannis D., Lamprou K.A., Mastora E., Dimitriou T.G., Kyriakopoulou Z., Kottaridi C., Karakitsos P., Markoulatos P. (2017)

Purpose. Polymorphic variability in the tumour-suppressor protein p53 at codon 72 has a considerable impact on cervical cancer development. The present study clarified the association between p53 codon 72 genotypes and the ...

Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis

Barba E., Kontou P.I., Michalopoulos I., Bagos P.G., Braliou G.G. (2022)

Azathioprine (AZA) and its metabolite, mercaptopurine (6-MP), are widely used immunosuppressant drugs. Polymorphisms in genes implicated in AZA/6-MP metabolism, reportedly, could account in part for their potential toxicity. ...

Association of maternal angiotensin II type 1 and type 2 receptor combination genotypes with susceptibility to early-onset preeclampsia

Satra M., Samara M., Alatsathianos G., Vamvakopoulou D., Baka A., Tsalazidou-Founta T.-M., Sidiropoulos A., Vamvakopoulos K.-O., Garas A., Daponte A., Vamvakopoulos N., Sotiriou S. (2022)

Allelic variations affecting the activity of the maternal renin-angiotensin system may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form, and intrauterine ...

Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study)

Divanoglou N., Komninou D., Stea E.A., Argiriou A., Papatzikas G., Tsakalof A., Pazaitou-Panayiotou K., Georgakis M.K., Petridou E. (2021)

Background/Aim: An alarming increase in vitamin D deficiency even in sunny regions highlights the need for a better understanding of the genetic background of the vitamin D endocrine system and the molecular mechanisms of ...

Association of α-synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset

Hadjigeorgiou, G. H.; Xiromerisiou, G.; Gourbali, V.; Aggelakis, K.; Scarmeas, N.; Papadimitriou, A.; Singleton, A. (2006)

The α-synuclein Rep1 polymorphism was studied in patients and controls in an ethnic Greek population. There was an association of allele 2 with risk of Parkinson's disease (PD; adjusted odd ratio = 3.25; 95% CI = 1.80-5.87). ...

BAFF receptor polymorphisms and deficiency in humans

Sevdali E., Block Saldana V., Speletas M., Eibel H. (2021)

The BAFF-receptor (BAFFR) is a member of the TNF-receptor family. It is expressed only by B cells and binds BAFF as single ligand, which activates key signaling pathways regulating essential cellular functions, including ...

Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson's disease

Markopoulou, K.; Dickson, D. W.; McComb, R. D.; Wszolek, Z. K.; Katechalidou, L.; Avery, L.; Stansbury, M. S.; Chase, B. A. (2008)

Individuals with familial Parkinson's disease (PD) due to a monogenic defect can show considerable clinical and neuropathological variability. To identify factors underlying this variability, histopathological analysis was ...

Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: AN international consensus statement

Puschmann, A.; Brighina, L.; Markopoulou, K.; Aasly, J.; Chung, S. J.; Frigerio, R.; Hadjigeorgiou, G.; Kõks, S.; Krüger, R.; Siuda, J.; Wider, C.; Zesiewicz, T. A.; Maraganore, D. M. (2015)

Parkinson disease (PD) is associated with a clinical course of variable duration, severity, and a combination of motor and non-motor features. Recent PD research has focused primarily on etiology rather than clinical ...

CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm

Siokas V., Kardaras D., Aloizou A.-M., Liampas I., Papageorgiou E., Drakoulis N., Tsatsakis A., Mitsias P.D., Hadjigeorgiou G.M., Tsironi E.E., Dardiotis E. (2020)

Blepharospasm (BSP) is a neurological movement disorder. Coffee consumption has been found to have a protective effect against BSP. BSP and apraxia of eyelid opening are particularly common among patients with PD. The ...

Genetic contribution of MHC class II genes in susceptibility to west nile virus infection

Sarri C.A., Markantoni M., Stamatis C., Papa A., Tsakris A., Pervanidou D., Baka A., Politis C., Billinis C., Hadjichristodoulou C., Mamuris Z. (2016)

WNV is a zoonotic neurotropic flavivirus that has recently emerged globally as a significant cause of viral encephalitis. The last five years, 624 incidents of WNV infection have been reported in Greece. The risk for severe ...

Genetic determinants of C1 inhibitor deficiency angioedema age of onset

Gianni P., Loules G., Zamanakou M., Kompoti M., Csuka D., Psarros F., Magerl M., Moldovan D., Maurer M., Speletas M.G., Farkas H., Germenis A.E. (2017)

Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological ...

Genetic polymorphism of canine cytochrome P450 2D25 gene

Pappas, I. S.; Katsiabas, D. S. (2004)

Human CYP2D6 is involved in the metabolism of a number of drugs including neuroleptics, tricyclic antidepressants, β-adrenoreceptors antagonists and antiarrhythmic drugs. The corresponding canine CYP2D15 have shown similar ...

Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants

Dardiotis E., Siokas V., Sokratous M., Tsouris Z., Michalopoulou A., Andravizou A., Dastamani M., Ralli S., Vinceti M., Tsatsakis A., Hadjigeorgiou G.M. (2018)

Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease of the central nervous system, characterized by progressive loss of motor neurons, and occurring in both sporadic and familial form. The origin of ...

Genetic risk factors for essential tremor: A review

Siokas V., Aloizou A.-M., Tsouris Z., Liampas I., Aslanidou P., Dastamani M., Brotis A.G., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2020)

Highlights In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ...

Genetic variation in Wnt/β-catenin and ER signalling pathways in female and male elite dancers and its associations with low bone mineral density: a cross-section and longitudinal study

Amorim T., Durães C., Machado J.C., Metsios G.S., Wyon M., Maia J., Flouris A.D., Marques F., Nogueira L., Adubeiro N., Koutedakis Y. (2018)

Summary: The association of genetic polymorphisms with low bone mineral density in elite athletes have not been considered previously. The present study found that bone mass phenotypes in elite and pre-elite dancers are ...