Christos Chassanidis

Aristotle University of Thessaloniki

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PΚ

Panagoula Κollia

National and Kapodistrian University of Athens

Angelos Kalamaras

University of Thessaly

ΜΣ

Μαρία Σαμαρά

University of Thessaly

George P. Patrinos

Erasmus MC

Manoussos N. Papadakis

Euromedica

Sophia Likousi

Agia Olga Hospital

Nikolaos K. Vamvakopoulos

University of Thessaly

Ioanna Chiotoglou

University of Thessaly

Vassiliki Aleporou‐Marinou

National and Kapodistrian University of Athens

Theodora Koromila

The University of Texas at Arlington

Cooperative Institutions

University of Thessaly

National and Kapodistrian University of Athens

University Hospital of Larissa

Aristotle University of Thessaloniki

Laiko General Hospital of Athens

University of Ioannina

Creative Research Enterprises (United States)

RMIT University

Development Agency of Karditsa

University of Hull

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Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations

PLoS ONE (2016)

Christos Chassanidis Effrossyni Boutou Ersi Voskaridou Angeliki Balassopoulou

Beta-thalassaemia is one of the most common autosomal recessive disorders worldwide. The disease’s high incidence, which is observed in the broader Mediterranean area has led to the establishment of molecular diagnostics’ assays to prevent affected births. Therefore, the development of a reliable, cost-effective and rapid scanning method for β globin gene point mutations, easily adapted to a routine laboratory, is absolutely essential. Here, we describe, for the first time, the development of a High-Resolution Melting Analysis (HRMA) approach, suitable for scanning the particularly heterogeneous beta globin gene mutations present in the Greek population, and thus adaptable to the Mediterranean and other areas where these mutations have been identified. Within this context, β globin gene regions containing mutations frequently identified in the Greek population were divided in ten overlapping amplicons. Our reactions’ setup allowed for the simultaneous amplification of multiple primer sets and partial multiplexing, thereby resulting in significant reduction of the experimental time. DNA samples from β-thalassaemia patients/carriers with defined genotypes were tested. Distinct genotypes displayed distinguishable melting curves, enabling accurate detection of mutations. The described HRMA can be adapted to a high-throughput level. It represents a rapid, simple, cost-effective, reliable, highly feasible and sensitive method for β-thalassaemia gene scanning.

High Resolution Melt

Amplicon

10.1371/journal.pone.0157393

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Citations (5)

Differential Impact of Transcriptional vs. Post-Transcriptional Control Mechanisms in the Regulation of Transferrin Receptor-1 and -2 in Human Myeloid Cells.

Blood (2006)

Μαρία Σαμαρά Ioanna Chiotoglou Christos Chassanidis Sophia Likousi Κώστας Σταματόπουλος

Transferrin receptor

Ineffective erythropoiesis

10.1182/blood.v108.11.3734.3734

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The 5′ Regulatory Region of the Human Fetal Globin Genes is a Gene Conversion Hotspot

Hemoglobin (2008)

Angelos Kalamaras Christos Chassanidis Μαρία Σαμαρά Ioanna Chiotoglou Nikolaos K. Vamvakopoulos

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 which are restricted to the coding sequences. Here, we provide evidence for three new gene conversion events in the 5′ regulatory region of the human fetal globin genes, identified during a large genetic screening effort in adult individuals with high fetal hemoglobin (Hb) levels. The sequence variations, resulting from these conversion events, are transcriptionally silent polymorphisms that do not contribute to increased fetal Hb levels. Our results suggest that the 5′ regulatory region of the human fetal globin genes is a gene conversion hotspot that prevent globin gene promoter sequence diversification, further underlining the need for two functional fetal globin genes in fetal erythropoiesis.

Gene conversion

Coding region

Gene cluster

10.1080/03630260802507824

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Citations (5)

Expression profile of osteoprotegerin, RANK and RANKL genes in the femoral head of patients with avascular necrosis

Experimental and Molecular Pathology (2013)

S. Samara Zoe Dailiana Christos Chassanidis Theodora Koromila Loukia K. Papatheodorou

RANK Ligand

Avascular Necrosis

Bone remodeling

10.1016/j.yexmp.2013.10.014

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The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter

Annals of Hematology (2008)

Christos Chassanidis Angelos Kalamaras Marios Phylactides Farzin Pourfarzad Sophia Likousi

Nondeletional hereditary persistence of fetal hemoglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults, is associated with promoter mutations in the human fetal globin (HBG1 and HBG2) genes. In this paper, we report a novel type of nd-HPFH due to a HBG2 gene promoter mutation (HBG2:g.-109G>T). This mutation, located at the 3' end of the HBG2 distal CCAAT box, was initially identified in an adult female subject of Central Greek origin and results in elevated Hb F levels (4.1%) and significantly increased Ggamma-globin chain production (79.2%). Family studies and DNA analysis revealed that the HBG2:g.-109G>T mutation is also found in the family members in compound heterozygosity with the HBG2:g.-158C>T single nucleotide polymorphism or the silent HBB:g.-101C>T beta-thalassemia mutation, resulting in the latter case in significantly elevated Hb F levels (14.3%). Electrophoretic mobility shift analysis revealed that the HBG2:g.-109G>T mutation abolishes a transcription factor binding site, consistent with previous observations using DNA footprinting analysis, suggesting that guanine at position HBG2/1:g.-109 is critical for NF-E3 binding. These data suggest that the HBG2:g-109G>T mutation has a functional role in increasing HBG2 transcription and is responsible for the HPFH phenotype observed in our index cases.

10.1007/s00277-008-0643-0

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Bone morphogenetic proteins (BMPs) expression in the femoral heads of patients with avascular necrosis

Molecular Biology Reports (2013)

S. Samara Zoe Dailiana Sokratis Varitimidis Christos Chassanidis Theodora Koromila

Avascular Necrosis

10.1007/s11033-013-2538-y

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Citations (20)

Large‐scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in Central Greece compared to the rest of the country

American Journal of Hematology (2007)

Μαρία Σαμαρά Ioanna Chiotoglou Angelos Kalamaras Sophia Likousi Christos Chassanidis

Abstract We have undertaken a large population screening study to identify the molecular basis of hemoglobinopathies in the central Greece region. A total of 845 unrelated β‐thalassemia patients and α‐, β‐, and δβ‐thalassemia carriers have been recruited and screened for mutations in the α‐ and β‐globin gene clusters. The α −MED deletion and the Turkish inversion/deletion are the most frequent genetic rearrangements leading to α‐ and δβ‐thalassemia respectively, contrary to the situation in the rest of the country, while the β −101 (C>T) promoter mutation is surprisingly frequent in the central part of Greece. Our data indicate that determination of mutation frequencies in different regions is vital for accurate provision of genetic services and counseling and for precise estimation of genetic diversity. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.

Rest (music)

Beta thalassemia

Hemoglobinopathy

10.1002/ajh.20889

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Citations (22)

Classification of Soccer and Basketball Players’ Jumping Performance Characteristics: A Logistic Regression Approach

Sports (2019)

Christos Chalitsios Thomas Nikodelis Vassilios Panoutsakopoulos Christos Chassanidis Iraklis Kollias

This study aimed to examine countermovement jump (CMJ) kinetic data using logistic regression, in order to distinguish sports-related mechanical profiles. Eighty-one professional basketball and soccer athletes participated, each performing three CMJs on a force platform. Inferential parametric and nonparametric statistics were performed to explore group differences. Binary logistic regression was used to model the response variable (soccer or not soccer). Statistical significance (p < 0.05) was reached for differences between groups in maximum braking rate of force development (RFDDmax, U79 = 1035), mean braking rate of force development (RFDDavg, U79 = 1038), propulsive impulse (IMPU, t79 = 2.375), minimum value of vertical displacement for center of mass (SBCMmin, t79 = 3.135), and time difference (% of impulse time; ΔΤ) between the peak value of maximum force value (FUmax) and SBCMmin (U79 = 1188). Logistic regression showed that RFDDavg, impulse during the downward phase (IMPD), IMPU, and ΔΤ were all significant predictors. The model showed that soccer group membership could be strongly related to IMPU, with the odds ratio being 6.48 times higher from the basketball group, whereas RFDDavg, IMPD, and ΔΤ were related to basketball group. The results imply that soccer players execute CMJ differently compared to basketball players, exhibiting increased countermovement depth and impulse generation during the propulsive phase.

Countermovement

Basketball

Plyometrics

10.3390/sports7070163

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Citations (20)

Compound heterozygosity of non‐deletional hereditary persistence of fetal hemoglobin and δβ‐thalassemia

American Journal of Hematology (2008)

Angelos Kalamaras Christos Chassanidis Μαρία Σαμαρά Manoussos N. Papadakis Andromachi Vagena

10.1002/ajh.21243

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Citations (0)