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 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 The Association Study of Calmodulin 1 Gene Polymorphisms with Susceptibility to Adolescent Idiopathic Scoliosis

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Yu Zhang ◽  
Zuchao Gu ◽  
Guixing Qiu
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Case Control Study ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Curve Severity ◽  
The Relationship ◽  
Control Study ◽  
Main Curve

Objective.Idiopathic scoliosis is the most common pediatric spinal deformity affecting 1% to 3% of the population, and adolescent idiopathic scoliosis (AIS) accounts for approximately 80% of these cases; however, the etiology and pathogenesis of AIS are still uncertain. The current study aims to identify the relationship between calmodulin 1 (CALM1) gene and AIS predisposition, to identify the relationship between the genotypes of the SNPs and the clinical phenotypes of AIS.Methods.146 AIS patients and 146 healthy controls were enrolled into this case-control study. 12 single nucleotide polymorphisms (SNPs) candidates in CALM1 gene were selected to determine the relationship between CALM1 gene and AIS predisposition. Case-only study was performed to determine the effects of these variants on the severity of the condition.Results.Three SNPs from 12 candidates were found to be associated with AIS predisposition. The ORs were observed as 0.549 (95% CI 0.3519–0.8579,P=0.0079), 0.549 (95% CI 0.3519–0.8579,P=0.0079), and 1.6139 (95% CI 1.0576–2.4634,P=0.0257) for rs2300496, rs2300500, and rs3231718, respectively. There was no statistical difference between main curve, severity, and genotype distributions of all of 12 SNPs.Conclusion.Genetic variants of CALM1 gene are associated with AIS susceptibility.

scholarly journals Association between Estrogen Receptor Alpha Gene Polymorphisms and Susceptibility to Idiopathic Scoliosis in Bulgarian Patients: A Case-Control Study

2015 ◽  
Vol 3 (2) ◽  
pp. 278-282 ◽  
Author(s):  
Svetla Nikolova ◽  
Vasil Yablanski ◽  
Evgeni Vlaev ◽  
Luben Stokov ◽  
Alexey Savov ◽  
...  
Keyword(s):  
Estrogen Receptor ◽  
Idiopathic Scoliosis ◽  
Estrogen Receptor Alpha ◽  
Case Control Study ◽  
Early Stage ◽  
Case Control ◽  
Receptor Alpha ◽  
Estrogen Receptor Alpha Gene ◽  
Alpha Gene ◽  
Control Study

BACKGROUND: The current consensus on idiopathic scoliosis maintains that it has a multifactorial etiology with genetic predisposing factors.AIM: Estrogen receptor alpha gene has been considered as candidate gene of idiopathic scoliosis.MATERIAL AND METHODS: We conducted a case-control study of Bulgarian population samples (eighty patients with idiopathic scoliosis and one hundred-sixty healthy unrelated gender-matched controls) trying to investigate the association between common genetic polymorphisms of estrogen receptor alpha and the susceptibility to idiopathic scoliosis. Molecular detection of the restriction polymorphisms XbaI and PvuII was performed by polymerase chain reaction following by restriction fragment length polymorphism. The statistical analysis was performed by Pearson's chi-squared test.RESULTS: Our case-control study showed statistically significant association between the PvuII polymorphism and susceptibility to idiopathic scoliosis and curve progression. No genotype or allele of XbaI polymorphism was found to be correlated with the onset or severity of the disease.CONCLUSIONS: 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 Serum Biomarker Signature-Based Liquid Biopsy for Diagnosis of Early-Stage Pancreatic Cancer

2018 ◽  
Vol 36 (28) ◽  
pp. 2887-2894 ◽  
Author(s):  
Linda D. Mellby ◽  
Andreas P. Nyberg ◽  
Julia S. Johansen ◽  
Christer Wingren ◽  
Børge G. Nordestgaard ◽  
...  
Keyword(s):  
Case Control Study ◽  
Early Stage ◽  
Stage Iv ◽  
The United States ◽  
Case Control ◽  
Stage I ◽  
Serum Biomarker ◽  
Patient Cohort ◽  
Biomarker Signature ◽  
Control Study

Purpose Pancreatic ductal adenocarcinoma (PDAC) has a poor prognosis, with a 5-year survival of < 10% because of diffuse symptoms leading to late-stage diagnosis. That survival could increase significantly if localized tumors could be detected early. Therefore, we used multiparametric analysis of blood samples to obtain a novel biomarker signature of early-stage PDAC. The signature was derived from a large patient cohort, including patients with well-defined early-stage (I and II) PDAC. This biomarker signature was validated subsequently in an independent patient cohort. Patients and Methods The biomarker signature was derived from a case-control study, using a Scandinavian cohort, consisting of 16 patients with stage I, 132 patients with stage II, 65 patients with stage III, and 230 patients with stage IV PDAC, and 888 controls. This signature was validated subsequently in an independent case-control cohort in the United States with 15 patients with stage I, 75 patients with stage II, 15 patients with stage III, and 38 patients with stage IV PDAC, and 219 controls. An antibody microarray platform was used to identify the serum biomarker signature associated with early-stage PDAC. Results Using the Scandinavian case-control study, a biomarker signature was created, discriminating samples derived from patients with stage I and II from those from controls with a receiver operating characteristic area under the curve value of 0.96. This signature, consisting of 29 biomarkers, was then validated in an independent case-control study in the United States. The biomarker signature could discriminate patients with stage I and II PDAC from controls in this independent patient cohort with a receiver operating characteristic area under the curve value of 0.96. Conclusion This serum biomarker signature might represent a tenable approach to detecting early-stage, localized PDAC if these findings are supported by a prospective validation study.

scholarly journals The effect of raw vegetable and fruit intake on thyroid cancer risk among women: a case–control study in South Korea

2012 ◽  
Vol 109 (1) ◽  
pp. 118-128 ◽  
Author(s):  
Su Kyoung Jung ◽  
Kirang Kim ◽  
Kyung Tae ◽  
Gu Kong ◽  
Mi Kyung Kim
Keyword(s):  
Thyroid Cancer ◽  
Cancer Risk ◽  
Case Control Study ◽  
Early Stage ◽  
Conditional Logistic Regression ◽  
Case Control ◽  
Dietary Factors ◽  
Inverse Association ◽  
Thyroid Cancer Risk ◽  
Control Study

Thyroid cancer is the most common cancer among Korean women. However, there are few data on dietary factors related to thyroid cancer risk. The objective of the present study was to evaluate the association between raw vegetables and fruits intake and thyroid cancer in a case–control study. We included 111 histologically confirmed malignant thyroid cancer cases and 115 benign cases. Controls who did not have nodules in thyroid ultrasonography were matched to cases by age ( ± 2 years). Food and nutrient intakes were estimated using a quantitative FFQ with 121 items. Conditional logistic regression analysis was used to obtain OR and corresponding 95 % CI. The intake of total vegetables was not associated with malignant thyroid cancer, but inversely associated with benign cases. High raw vegetable intake was inversely associated with thyroid cancer risk both in malignant and benign cases (P for trend = 0·01 in both malignant and benign cases). Among fruits, persimmon intake had an inverse association with thyroid cancer risk in both malignant and benign cases (P for trend = 0·06 in malignant cases; P for trend = 0·01 in benign cases) and tangerine intake had an inverse association in malignant cases (P for trend = 0·03). The frequency of consumption of raw vegetables and persimmon also had a consistent inverse association in both malignant and benign cases. These results suggest that high consumption of raw vegetables, persimmons and tangerines may decrease thyroid cancer risk and help prevent early-stage thyroid cancer.

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