Browsing by Subject "Genetic Association Studies"

The -938C>A polymorphism in MYD88 is associated with susceptibility to tuberculosis: A pilot study

Aggelou K., Siapati E.K., Gerogianni I., Daniil Z., Gourgoulianis K., Ntanos I., Simantirakis E., Zintzaras E., Mollaki V., Vassilopoulos G. (2016)

Introduction. Tuberculosis (TB) is a major disease worldwide, caused by Mycobacterium tuberculosis (MTB) infection.The Toll- Like Receptor (TLR) pathway plays a crucial role in the recognition of MTB. Aim. The present study ...

Alpha-synuclein repeat variants and survival in parkinson's disease

Chung, S. J.; Biernacka, J. M.; Armasu, S. M.; Anderson, K.; Frigerio, R.; Aasly, J. O.; Annesi, G.; Bentivoglio, A. R.; Brighina, L.; Chartier-Harlin, M. C.; Goldwurm, S.; Hadjigeorgiou, G.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Krüger, R.; Lesage, S.; Markopoulou, K.; Mellick, G.; Morrison, K. E.; Puschmann, A.; Tan, E. K.; Crosiers, D.; Theuns, J.; Van Broeckhoven, C.; Wirdefeldt, K.; Wszolek, Z. K.; Elbaz, A.; Maraganore, D. M.; Yahalom, G.; Orlev, Y.; Cohen, O. S.; Kozlova, E.; Friedman, E.; Inzelberg, R.; Hassin-Baer, S. (2014)

Objectives: To determine whether α-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD). Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease ...

Amino acid signatures in the HLA class II peptide-binding region associated with protection/susceptibility to the severe West Nile Virus disease

Sarri C.A., Papadopoulos G.E., Papa A., Tsakris A., Pervanidou D., Baka A., Politis C., Billinis C., Hadjichristodoulou C., Mamuris Z. (2018)

The MHC class II region in humans is highly polymorphic. Each MHC molecule is formed by an α and a β chain, produced by different genes, creating an antigen-binding groove. In the groove there are several pockets into which ...

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 FCGR2A with the response to infliximab treatment of patients with rheumatoid arthritis

Montes, A.; Perez-Pampin, E.; Narváez, J.; Cañete, J. D.; Navarro-Sarabia, F.; Moreira, V.; Fernández-Nebro, A.; Del Carmen Ordóñez, M.; De La Serna, A. R.; Magallares, B.; Vasilopoulos, Y.; Sarafidou, T.; Caliz, R.; Ferrer, M. A.; Joven, B.; Carreira, P.; Gómez-Reino, J. J.; Gonzalez, A. (2014)

OBJECTIVES: We aimed to assess a functional polymorphism in FCGR2A H131R, for association with the treatment response to Fc-containing inhibitors of tumor necrosis factor (TNF). METHODS: A total of 429 biologic-naive ...

Association of the leptin gene with knee osteoarthritis susceptibility in a Han Chinese population: A case-control study

Qin, J.; Shi, D.; Dai, J.; Zhu, L.; Tsezou, A.; Jiang, Q. (2010)

Previous studies have suggested that leptin works as a key regulator in the pathogenesis of osteoarthritis (OA), and genetic factors modulate OA. This study assessed the contribution of leptin gene (LEP) polymorphism(s) ...

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]

Editorial for special issue “genetic basis and epidemiology of myopathies”

Peristeri E., Dardiotis E. (2021)

We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology ...

ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population

Dardiotis E., Karampinis E., Siokas V., Aloizou A.-M., Rikos D., Ralli S., Papadimitriou D., Bogdanos D.P., Hadjigeorgiou G.M. (2019)

Background: Α number of genetic variants have been associated with amyotrophic lateral sclerosis (ALS). A recent study supports that rs591486 across the ERCC6L2 gene and exposure to pesticides seem to have a joint effect ...

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

Kekou K., Svingou M., Sofocleous C., Mourtzi N., Nitsa E., Konstantinidis G., Youroukos S., Skiadas K., Katsalouli M., Pons R., Papavasiliou A., Kotsalis C., Pavlou E., Evangeliou A., Katsarou E., Voudris K., Dinopoulos A., Vorgia P., Niotakis G., Diamantopoulos N., Nakou I., Koute V., Vartzelis G., Papadimas G.-K., Papadopoulos C., Tsivgoulis G., Traeger-Synodinos J. (2020)

Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular ...

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

Wang L., Heckman M.G., Aasly J.O., Annesi G., Bozi M., Chung S.J., Clarke C., Crosiers D., Eckstein G., Garraux G., Hadjigeorgiou G.M., Hattori N., Jeon B., Kim Y.J., Kubo M., Lesage S., Lin J.J., Lynch T., Lichtner P., Mellick G.D., Mok V., Morrison K.E., Quattrone A., Satake W., Silburn P.A., Stefanis L., Stockton J.D., Tan E.K., Toda T., Brice A., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Maraganore D.M., Gasser T., Krüger R., Farrer M.J., Ross O.A., Sharma M. (2017)

A recent study MacLeod et al. has shown that an interaction between variants at the LRRK2 and PARK16 loci influences risk of development of Parkinson's disease (PD). Our study examines the proposed interaction between LRRK2 ...

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]

FcγRIIa-H131R variant is associated with inferior response in diffuse large B cell lymphoma: A meta-analysis of genetic risk

Ziakas P.D., Poulou L.S., Zintzaras E. (2016)

Purpose: Low-affinity variants FcγRIIIa-V158F and FcγRI-Ia-H131R may alter response to rituximab-based chemotherapy in diffuse large B-cell lymphoma (DLBCL) but available clinical evidence is inconclusive. Our purpose was ...

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 ...

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 ...

Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases

Marogianni C., Georgouli D., Dadouli K., Ntellas P., Rikos D., Hadjigeorgiou G.M., Spanaki C., Xiromerisiou G. (2021)

Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ...

Key Genetic Components of Fibrosis in Diabetic Nephropathy: An Updated Systematic Review and Meta-Analysis

Tziastoudi M., Theoharides T.C., Nikolaou E., Efthymiadi M., Eleftheriadis T., Stefanidis I. (2022)

Renal fibrosis (RF) constitutes the common end-point of all kinds of chronic kidney disease (CKD), regardless of the initial cause of disease. The aim of the present study was to identify the key players of fibrosis in the ...

Lack of association between TREM2 rs75932628 variant and amyotrophic lateral sclerosis

Siokas V., Aloizou A.-M., Liampas I., Tsouris Z., Mentis A.-F.A., Nasios G., Papadimitriou D., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2021)

Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease. Inflammatory processes are among the mechanisms that are implicated in ALS pathogenesis. The TREM2 rs75932628 T variant may influence the ...

MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease

Schormair, B.; Plag, J.; Kaffe, M.; Groß, N.; Czamara, D.; Samtleben, W.; Lichtner, P.; Ströhle, A.; Stefanidis, I.; Vainas, A.; Dardiotis, E.; Sakkas, G. K.; Gieger, C.; Müller-Myhsok, B.; Meitinger, T.; Heemann, U.; Hadjigeorgiou, G. M.; Oexle, K.; Winkelmann, J. (2011)

Background: Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease ...

Meta-analysis and bioinformatics detection of susceptibility genes in diabetic nephropathy

Tziastoudi M., Cholevas C., Theoharides T.C., Stefanidis I. (2022)

The latest meta-analysis of genome-wide linkage studies (GWLS) identified nine cytogenetic locations suggestive of a linkage with diabetic nephropathy (DN) due to type 1 diabetes mellitus (T1DM) and seven locations due to ...