scholarly journals Association Study between Promoter Polymorphism of TPH1 and Progression of Idiopathic Scoliosis

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Vasil Yablanski ◽  
Svetla Nikolova ◽  
Evgeni Vlaev ◽  
Alexey Savov ◽  
Ivo Kremensky
Keyword(s):  
Idiopathic Scoliosis ◽  
Early Stage ◽  
Population Sample ◽  
Promoter Polymorphism ◽  
European Population ◽  
Rapid Progression ◽  
Eastern European ◽  
Exact Test ◽  
Disease Modifier ◽  
Curve Severity

The concept of disease-modifier genes as an element of genetic heterogeneity has been widely accepted and reported. The aim of the current study is to investigate the association between the promoter polymorphism TPH1 (rs10488682) and progression of idiopathic scoliosis (IS) in Eastern European population sample. A total of 105 patients and 210 healthy gender-matched controls were enrolled in this study. The TPH1 promoter polymorphism was genotyped by amplification followed by restriction. The statistical analysis was performed by Fisher’s Exact Test. The results indicated that the genotypes and alleles of TPH1 (rs10488682) are not correlated with curve severity, curve pattern, or bracing. Therefore, the examined polymorphic variant could not be considered as a genetic factor with modifying effect of IS. In conclusion, this case-control study revealed no statistically significant association between TPH1 (rs10488682) and progression of IS in Eastern European population sample. These preliminary results should be replicated in extended population studies including larger sample sizes. The identification of molecular markers for IS could be useful for a more accurate prognosis of the risk for a rapid progression of the curve. That would permit early stage treatment of the patient with the least invasive procedures.

scholarly journals In Search of Biomarkers for Idiopathic Scoliosis: Leptin and BMP4 Functional Polymorphisms

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Svetla Nikolova ◽  
Vasil Yablanski ◽  
Evgeni Vlaev ◽  
Gergana Getova ◽  
Ventseslav Atanasov ◽  
...  
Keyword(s):  
Idiopathic Scoliosis ◽  
Early Stage ◽  
Population Sample ◽  
Rapid Progression ◽  
Promoter Polymorphisms ◽  
Functional Polymorphisms ◽  
Chi Squared ◽  
Bulgarian Population ◽  
Curve Severity ◽  
Control Study

Idiopathic scoliosis (IS) is the most common spinal disorder in children and adolescents. The current consensus on IS maintains that it has a multifactorial etiology with genetic predisposition factors. In the present study the association of two functional polymorphisms of leptin (rs7799039) and BMP4 (rs4898820) with susceptibility to IS and curve severity was investigated in a Bulgarian population sample. The molecular detection of the genotypes was performed by amplification followed by restriction technology. The statistical analysis was performed by Pearson’s chi-squared test. This case-control study revealed no statistically significant association between the functional polymorphisms of leptin and BMP4 and susceptibility to IS or curve progression (p>0.05). On the basis of these results the examined polymorphic variants of leptin and BMP4 could not be considered as genetic variants with predisposition effect or as risk factors for the progression of the curve. In addition, these results do not exclude a synergistic effect of the promoter polymorphisms of leptin and BMP4 in the etiology and pathogenesis of IS. The identification of molecular markers for IS could be useful for early detection and prognosis of the risk for a rapid progression of the curve. That would permit early stage treatment of the patient with the least invasive procedures.

scholarly journals Role of the IL-6 Gene in the Etiopathogenesis of Idiopathic Scoliosis

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Svetla Nikolova ◽  
Milka Dikova ◽  
Dobrin Dikov ◽  
Assen Djerov ◽  
Gyulnas Dzhebir ◽  
...  
Keyword(s):  
Idiopathic Scoliosis ◽  
Case Control Study ◽  
Early Stage ◽  
Promoter Polymorphism ◽  
Case Control ◽  
Chi Squared ◽  
Bulgarian Population ◽  
Deformity Progression ◽  
Curve Severity ◽  
Control Study

Scoliotic human nuclei pulposi can respond to exogenous proinflammatory stimuli by secreting increased amounts of interleukin-6 (IL-6). The G/C polymorphism of the promoter region ofIL-6gene influences levels and functional activity of the IL-6 protein. We conducted a case-control study of eighty patients with idiopathic scoliosis (IS) and one hundred sixty healthy unrelated gender-matched controls trying to investigate the association between IS and theIL-6promoter polymorphism at -174 position (rs1800795 G/C) in Bulgarian population. Molecular detection of theIL-6genotypes was performed by amplification followed by restriction technology. The statistical analysis was performed by Pearson’s chi-squared test. Our case-control study revealed a statistically significant association between theIL-6(-174 G/C) functional polymorphism and susceptibility to IS. In addition, a significant association between theIL-6(-174 G/C) polymorphism and curve severity was detected.IL-6gene could be considered as susceptibility and modifying factor of idiopathic scoliosis. The identification of molecular markers with diagnostic and prognostic value could be useful for early detection of children at risk for the development of scoliosis and for prognosis of the risk for a rapid deformity progression. That would facilitate the therapy decisions and early stage treatment of the patient with the least invasive procedures.

scholarly journals Association Study between Idiopathic Scoliosis and Polymorphic Variants of VDR, IGF-1, and AMPD1 Genes

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Svetla Nikolova ◽  
Vasil Yablanski ◽  
Evgeni Vlaev ◽  
Luben Stokov ◽  
Alexey Slavkov Savov ◽  
...  
Keyword(s):  
Idiopathic Scoliosis ◽  
Early Stage ◽  
Genetic Disorder ◽  
Three Dimensional ◽  
Restriction Enzymes ◽  
Case Control ◽  
Unknown Etiology ◽  
Rapid Progression ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies

Idiopathic scoliosis (IS) is a complex genetic disorder of the musculoskeletal system, characterized by three-dimensional rotation of the spine with unknown etiology. For the aims of the current study we selected 3 single nucleotide polymorphisms with a low incidence of the polymorphic allele in Bulgarian population, AMPD1 (rs17602729), VDR (rs2228670), and IGF-1 (rs5742612), trying to investigate the association between these genetic polymorphisms and susceptibility to and progression of IS. The polymorphic regions of the genes were amplified by polymerase chain reaction (PCR). The PCR products were cleaved with the appropriate restriction enzymes. The statistical analysis was performed by Pearson’s chi-squared test. A value of p<0.05 was considered to be statistically significant. In conclusion, this case-control study revealed no statistically significant association between the VDR, IGF-1, and AMPD1 polymorphisms and the susceptibility to IS or curve severity in Bulgarian patients. Replication case-control studies will be needed to examine the association between these candidate-genes and IS in different populations. The identification of molecular markers for IS could be useful for early detection and prognosis of the risk for a rapid progression of the curve. That would permit early stage treatment of the patient with the least invasive procedures.

A Promoter Polymorphism of Neurotrophin 3 Gene Is Associated With Curve Severity and Bracing Effectiveness in Adolescent Idiopathic Scoliosis

Spine ◽  
2012 ◽  
Vol 37 (2) ◽  
pp. 127-133 ◽  
Author(s):  
Yong Qiu ◽  
Sai-hu Mao ◽  
Bang-ping Qian ◽  
Jun Jiang ◽  
Xu-sheng Qiu ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Promoter Polymorphism ◽  
Neurotrophin 3 ◽  
Curve Severity

scholarly journals The FTO Gene and Obesity in a Large Eastern European Population Sample: The HAPIEE Study

Obesity ◽  
2008 ◽  
Vol 16 (12) ◽  
pp. 2764-2766 ◽  
Author(s):  
Jaroslav A. Hubacek ◽  
Romana Bohuslavova ◽  
Lada Kuthanova ◽  
Ruzena Kubinova ◽  
Anne Peasey ◽  
...  
Keyword(s):  
Population Sample ◽  
European Population ◽  
Eastern European ◽  
Fto Gene

scholarly journals A MYC-Driven Plasma Polyamine Signature for Early Detection of Ovarian Cancer

Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 913
Author(s):  
Johannes Fahrmann ◽  
Ehsan Irajizad ◽  
Makoto Kobayashi ◽  
Jody Vykoukal ◽  
Jennifer Dennison ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Early Stage ◽  
Area Under The Curve ◽  
Polyamine Metabolism ◽  
Healthy Controls ◽  
Test Set ◽  
Exact Test ◽  
Oncogenic Driver ◽  
Characteristic Area ◽  
Validation Set

MYC is an oncogenic driver in the pathogenesis of ovarian cancer. We previously demonstrated that MYC regulates polyamine metabolism in triple-negative breast cancer (TNBC) and that a plasma polyamine signature is associated with TNBC development and progression. We hypothesized that a similar plasma polyamine signature may associate with ovarian cancer (OvCa) development. Using mass spectrometry, four polyamines were quantified in plasma from 116 OvCa cases and 143 controls (71 healthy controls + 72 subjects with benign pelvic masses) (Test Set). Findings were validated in an independent plasma set from 61 early-stage OvCa cases and 71 healthy controls (Validation Set). Complementarity of polyamines with CA125 was also evaluated. Receiver operating characteristic area under the curve (AUC) of individual polyamines for distinguishing cases from healthy controls ranged from 0.74–0.88. A polyamine signature consisting of diacetylspermine + N-(3-acetamidopropyl)pyrrolidin-2-one in combination with CA125 developed in the Test Set yielded improvement in sensitivity at >99% specificity relative to CA125 alone (73.7% vs 62.2%; McNemar exact test 2-sided P: 0.019) in the validation set and captured 30.4% of cases that were missed with CA125 alone. Our findings reveal a MYC-driven plasma polyamine signature associated with OvCa that complemented CA125 in detecting early-stage ovarian cancer.

scholarly journals Aging and Gender Health Gap: A Multilevel Analysis for 17 European Countries

2021 ◽  
Author(s):  
Patricia Gómez-Costilla ◽  
Carmen García-Prieto ◽  
Noelia Somarriba-Arechavala
Keyword(s):  
Welfare State ◽  
Population Group ◽  
European Population ◽  
European Countries ◽  
Gender Inequalities ◽  
Eastern European ◽  
Inequalities In Health ◽  
Social Democratic ◽  
Health Gap ◽  
Eastern European Countries

AbstractThe European population is aging and their declining capacity makes older Europeans more dependent on the availability of care. Male and female health needs at older ages are different, yet there are contradictory results on the study of gender inequalities in health among the older European population. The aim of this article is twofold: first, we study whether there is a general gender health gap at older ages across Europe. Secondly, we analyze the existence of an increasing or decreasing universal association between the gender health gap and age among the older European population or whether, by contrast, this depends on the type of welfare state. To achieve these goals, we use data from the Survey on Health, Ageing and Retirement in Europe (SHARE) for respondents aged 50 and over in 2015, and we carry out several multilevel random intercept logistic regressions for European countries. Our results show that when we split European countries into groups according to the type of welfare state, we only find a significant gender health gap in older people in Southern and Social Democratic countries. Some differences have been found in the links between the gender health gap and age among European countries. Old women report worse health than men at all ages in Southern countries while in Social Democratic states it is only true for women aged 80 and over. In Bismarckian states there are barely any gender differences, while the gender health gap has no clearly defined bias. Between the ages of 60 and 79, men from Eastern European countries report poorer health, while after 80 it is women who report poorer health. In general, we found the widest gender inequalities in health for the oldest population group, especially in Southern and Eastern European countries.

Correlation Between Hump Dimensions and Curve Severity in Idiopathic Scoliosis Before and After Conservative Treatment

Spine ◽  
2018 ◽  
Vol 43 (2) ◽  
pp. 114-119 ◽  
Author(s):  
Angelo Gabriele Aulisa ◽  
Vincenzo Guzzanti ◽  
Carlo Perisano ◽  
Emanuele Marzetti ◽  
Amerigo Menghi ◽  
...  
Keyword(s):  
Conservative Treatment ◽  
Idiopathic Scoliosis ◽  
Before And After ◽  
Curve Severity

MLC901 in subacute post-stroke recovery in the eastern European population: Preliminary results of a multicentre study

2021 ◽  
Vol 429 ◽  
pp. 119651
Author(s):  
Anita Anisovska ◽  
Mariusz Janta ◽  
Anna Tomašová ◽  
Slavomír Guťan ◽  
Barbora Garajová ◽  
...  
Keyword(s):  
Multicentre Study ◽  
European Population ◽  
Stroke Recovery ◽  
Eastern European ◽  
Preliminary Results ◽  
Post Stroke

scholarly journals The first insight into the genetic structure of the population of modern Serbia

2020 ◽  
Author(s):  
Tamara Drljaca ◽  
Branka Zukic ◽  
Vladimir Kovacevic ◽  
Branislava Gemovic ◽  
Kristel Klaassen-Ljubicic ◽  
...  
Keyword(s):  
Complex Traits ◽  
Genomic Medicine ◽  
Population Sample ◽  
Well Being ◽  
European Population ◽  
Sample Population ◽  
Western Balkans ◽  
Genetic Determinants ◽  
Functional Analyses ◽  
Insight Into

ABSTRACTThe complete understanding of the genomic contribution to complex traits, diseases, and response to treatments, as well as genomic medicine application to the well-being of all humans will be achieved through the global variome that encompasses fine-scale genetic diversity. Despite significant efforts in recent years, uneven representation still characterizes genomic resources and among the underrepresented European populations are the Western Balkans including the Serbian population. Our research addresses this gap and presents the first ever dataset of variants in clinically relevant genes in the population sample of contemporary Serbia. A few variants significantly more frequent in the analyzed sample population compared to the European population as a whole are distinguished as its unique genetic determinants. We explored thoroughly their potential functional impact and its correlation with the health burden of the population of Serbia. Our variant’s catalogue improves the understanding of genetics of modern Serbia, contributes to application of precision medicine and health equity. In addition, this resource may also be applicable in neighboring regions and in worldwide functional analyses of genetic variants in individuals of European descent.

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