10 research outputs found
The study of the effect of the 35delG mutation of GJB2 gene in Greece patients with prelingual non syndromic hearing loss
Association of NADPH oxidase p22phox gene C242T, A640G and-930A/G polymorphisms with primary knee osteoarthritis in the Greek population
Osteoarthritis (OA) is the most common form of arthritis with still
unknown pathogenic etiology and considerable contribution of genetic
factors. Recently, a new emerging role of oxidative stress in the
pathology of OA has been reported, lacking however elucidation of the
underlying mechanism. Nicotinamide adenine dinucleotide phosphate
(NADPH) oxidase being a complex enzyme produced by chondrocytes,
presents the major source of reactive oxygen species and main
contributor of increased oxidative stress. The present study aims to
evaluate the association of NADPH oxidase p22phox gene C242T, A640G and
-A930G polymorphisms with primary knee OA in the Greek population. One
hundred fifty five patients with primary symptomatic knee OA
participated in the study along with 139 matched controls. Genotypes
were determined using polymerase chain reaction and restriction fragment
length polymorphism technique. Allelic and genotypic frequencies were
compared between both study groups. NADPH p22phox -A930G polymorphism
was significantly associated with knee OA in the crude analysis (P =
0.018). No significant difference was detected for C242T and A640G
polymorphisms (P > 0.05). The association between -A930G polymorphism
and knee OA disappeared when the results were adjusted for obesity (P =
0.078, odds ratio 0.54, 95 % CI 0.272-1.071). The interaction between
all three polymorphisms was not significant. The present study shows
that NADPH oxidase p22phox gene C242T, A640G and -A930G polymorphisms
are not risk factors for knee OA susceptibility in the Greek population.
Further studies are needed to give a global view of the importance of
this polymorphism in the pathogenesis of OA
Genetic Polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women
Uridine diphospho-glucuronosyltransferase 1 (UGT1A1) is involved in
estradiol glucuronidation, which may play a central role in the etiology
of breast cancer. A common insertion/ deletion polymorphism in the
TATAA-box of the promoter region of UGT1A1 results in decreased
initiation of transcription, and has been associated with breast cancer
risk in different ethnic groups. In the present study, the role of the
above genetic variation at the UGT1A1 locus in breast cancer
susceptibility was investigated in a homogeneous population. Our
case-control study included 136 women with breast cancer and 186 healthy
female controls of Greek origin. The polymorphism A(TA) nTAA in the
promoter region of UGT1A1 gene was studied using the Fragment Analysis
Software of an automated DNA sequencer and three genotypes (homozygous
7/ 7, heterozygous 6/ 7, and normal homozygous 6/ 6) were identified. No
significant associations were observed between the 7/ 7 genotype and
breast cancer risk, indicating that further studies in Caucasian women
are needed to elucidate the role of UGT1A1 polymorphism in breast cancer
risk
Association of MMP-1-1607 1G/2G (rs1799750) Polymorphism With Primary Knee Osteoarthritis in the Greek Population
Osteoarthritis is the most common form of arthritis with still unknown
pathogenic etiology and considerable contribution of genetic factors.
One of the mechanisms of cartilage degradation in osteoarthritis is
enzymatic proteolysis of the extracellular matrix by metalloproteinases.
MMP-1, produced by chondrocytes and synovial cells, is a major
proteinase of the MMPs family. The present study aims at evaluating the
association of MMP1 gene -1607 1G/2G (rs1799750) polymorphism with
primary knee osteoarthritis in the Greek population. One hundred fifty
five patients with primary symptomatic knee osteoarthritis participated
in the study along with 139 controls. Genotypes were determined using
PCR-RLFP technique. Allelic and genotypic frequencies were compared
between both study groups. There was no significant association between
MMP1 -1607 1G/2G polymorphism and knee osteoarthritis, in crude
analysis; however, after multiple logistic regression analysis, 1G/2G
was associated with reduced odds of knee osteoarthritis by 75% in
males, compared to genotypes 1G/1G+2G/2G, adjusting for age and BMI
(adjusted OR: 0.25, 95% CI: 0.069, 0.910, p = 0.035). The present study
shows that MMP1 -1607 1G/2G (rs1799750) polymorphism might be a risk
factor for knee osteoarthritis susceptibility in the Greek population.
Further investigations are needed to confirm this association in the
pathogenesis of osteoarthritis. (C) 2014 Orthopaedic Research Society.
Published by Wiley Periodicals, Inc
The p16/ki-67 assay is a safe, effective and rapid approach to triage women with mild cervical lesions
Objective The aim of this study was to evaluate the diagnostic accuracy
and efficiency of p16/ki-67 dual stain in the identification of CIN2+
lesions, in Greek women with ASCUS or LSIL cytology.
Methods A total of 200 women, 20 to 60 years old, were enrolled in the
study. All samples were cytologically evaluated and performed for
p16/ki-67 and high-risk HPV (HR-HPV) test. All patients were referred to
colposcopy for biopsy and histological evaluation. Three cervical cancer
(CC) screening strategies were designed and the total direct medical
costs of the procedures during our clinical trial were evaluated, from a
healthcare perspective.
Results HPV 16 as expected was the most common HR-HPV type followed by
HPV 31 and HPV 51. The risk for CIN2+ was significantly higher in HPV
16/18 positive cases. p16/ki-67 demonstrated a high sensitivity for
CIN2+ identification in both ASCUS and LSIL groups (90.4% and 95%,
respectively). HR-HPV test with sensitivity 52.3% and 65.5%, as well
as colposcopy with sensitivity 14.3% and 36% respectively in ASCUS and
LSIL group, showed inferior results compared to p16/ki-67. The
specificity of p16/ki-67 for ASCUS and LSIL was 97.2% and 95.2%
respectively, inferior only to colposcopy: 100% and 100%, lacking
however statistical significance. HR-HPV test instead, presented the
lowest specificity: 76.4% and 71.4% respectively in comparison to the
other two methods. From a healthcare perspective, the costs and benefits
of the tests implementation for the annual screening and triaging, in
three CC screening strategies, were also calculated and discussed.
Conclusions The results of the study indicate that p16/ki-67 is a safe
and rapid assay that could be used to detect CIN2+ among women with mild
cervical lesions, presenting both high sensitivity and specificity and
could minimize the psychological and economic burden of HPV screening