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.

scholarly journals Meta-analysis reveals significant association between FOXP3 polymorphisms and susceptibility to Graves’ disease

2021 ◽  
Vol 49 (4) ◽  
pp. 030006052110041
Author(s):  
Guiqin Tan ◽  
Xin Wang ◽  
Guangbing Zheng ◽  
Juan Du ◽  
Fangyu Zhou ◽  
...  
Keyword(s):  
Meta Analysis ◽  
Pooled Analysis ◽  
Case Control ◽  
Graves Disease ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
China National Knowledge Infrastructure ◽  
Asian Populations ◽  
Knowledge Infrastructure ◽  
Independent Case

Objective This meta-analysis aimed to determine the associations between the rs3761547, rs3761548, and rs3761549 single-nucleotide polymorphisms (SNPs) of the forkhead box P3 ( FOXP3) gene and susceptibility to Graves’ disease (GD). Methods Case–control studies with information on the associations between the rs3761547, rs3761548, and rs3761549 FOXP3 SNPs and GD published before 01 May 2020 were identified in the PubMed, Embase, Web of Science, and China National Knowledge Infrastructure databases. Data from the studies were analyzed using RevMan version 5.3. Results Seven independent case–control studies including 4051 GD patients and 4569 controls were included in the meta-analysis. The overall pooled analysis indicated that FOXP3/rs3761548 and FOXP3/rs3761549 polymorphisms were significantly associated with GD susceptibility (rs3761548: A vs. C, odds ratio [OR] = 1.32, 95% confidence interval [CI] 1.05–1.67; rs3761549: TT vs. CC, OR = 1.98, 95%CI 1.49–2.65; (TT + TC) vs. CC, OR = 1.44, 95%CI 1.11–1.88). In contrast, the FOXP3/rs3761547 polymorphism was not associated with GD susceptibility. Subgroup analysis according to ethnicity showed that rs3761548 was associated with GD in Asians but not in Caucasians, whereas rs3761549 was associated in both Asians and Caucasians. Conclusion This meta-analysis demonstrated that FOXP3/rs3761548 and FOXP3/rs3761549 SNPs were significantly associated with susceptibility to GD, at least in Asian populations.

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.

Investigation of Leptin and its receptor (LEPR) for single nucleotide polymorphisms in colorectal cancer: A case-control study involving 2,306 subjects.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e16100-e16100
Author(s):  
Jing Lin ◽  
Yu Chen ◽  
Bin Lan ◽  
Zeng-qing Guo ◽  
Wei-feng Tang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Case Control Study ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Subgroup Analyses ◽  
Control Study

e16100 Background: Colorectal cancer is a leading cause of cancer deaths, with poor prognosis. Some studies have reported that obesity and overweight are risk factor for the development of CRC. Leptin ( LEP) and its receptor ( LEPR) single nucleotide polymorphisms (SNPs) might regulate energy balance and be implicated in the development of CRC. The aim of this case-control study was to assess the association of LEP rs2167270 G > A, rs7799039 A > G, LEPR rs6588147 G > A, rs1137100 G > A and rs1137101 G > A SNPs with susceptibility to CRC in Eastern Chinese Han population. Methods: 1,003 CRC cases and 1,303 matched controls was compared. Five functional SNPs in LEP and LEPR genes were chosen to evaluate the correlation of these chosen SNPs with CRC susceptibility. We used the SNPscan genotyping assay to genotype LEP and LEPR SNPs. Results: A significantly decreased risk of CRC was found to be associated with the LEPR rs6588147 polymorphism (GA vs. GG: crude P= 0.007 and GA/AA vs. GG: crude P= 0.018). With adjustments for risk factors (e.g. age, gender, drinking, BMI and smoking), these associations were not changed. In subgroup analyses, the association of LEP rs2167270 with a decreased risk of CRC was found in the ≥61 years old subgroup. For LEPR rs1137100, the association of this SNP with an increased susceptibility of CRC was found in the BMI < 24 kg/m2 subgroup. In subgroup analyses for LEPR rs6588147, we identified that this locus also decreased the susceptibility of CRC in the male subgroup, < 61 years old subgroup, never smoking subgroup and never drinking subgroup. For LEPR rs1137101, the relationship of this polymorphism with a decreased susceptibility to CRC was found in the never drinking subgroup. Conclusions: The present study highlights that LEPR rs6588147, rs1137101 and LEP rs2167270 may decrease the risk of CRC. However, LEPR rs1137100 is associated with susceptibility to CRC. Further case-control studies with larger sample sizes should be conducted to validate our findings.

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 Association of FcεRIβ polymorphisms with risk of asthma and allergic rhinitis: evidence based on 29 case–control studies

2018 ◽  
Vol 38 (4) ◽  
Author(s):  
Huanhuan Guo ◽  
Tao Peng ◽  
Ping Luo ◽  
Huabin Li ◽  
Shuo Huang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Statistical Power ◽  
Meta Analysis ◽  
Allergic Diseases ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
Potential Risk Factors ◽  
Genetic And Environmental Factors ◽  
The Stability

Purpose: Accumulating evidence has shown that allergic diseases are caused by a complex interaction of genetic and environmental factors, some single nucleotide polymorphisms (SNPs) existing in high-affinity IgE receptor β chain (FcεRIβ) are potential risk factors for allergic diseases. However, the results have been inconsistent and inconclusive due to the limited statistical power in individual study. Thus, we conducted a meta-analysis to systematically evaluate the association between FcεRIβ SNPs and allergic diseases risk. Methods: Eligible studies were collected from PubMed, Embase, Web of Science, Chinese National Knowledge Infrastructure, and WanFang databases. Pooled odd ratios (ORs) and corresponding 95% confidence intervals (95% CIs) were calculated to assess the strength of the relationships between five polymorphisms (E237G, -109 C/T, RsaI_in2, RsaI_ex7, and I181L) and the risk of allergic diseases by using five genetic models. In addition, the stability of our analysis was evaluated by publication bias, sensitivity, and heterogeneity analysis. Results: Overall, a total of 29 case–control studies were included in this meta-analysis. We found that E237G (B vs. A: OR = 1.28, 95% CI = 1.06–1.53, P<0.001, I2 = 63.1%) and -109 C/T (BB vs. AA + AB: OR = 1.58, 95%CI = 1.26–1.98, P<0.001, I2 = 66.4%) were risk factors for allergic diseases. Conclusion: Our meta-analysis suggests that polymorphisms in FcεRIβ may be associated with the development of allergic diseases.

scholarly journals Estimating Genetic Inheritance in Case-control Studies

2019 ◽  
Author(s):  
Na Li ◽  
Jiayan Zhu ◽  
Zhengbang Li
Keyword(s):  
Genetic Variants ◽  
Genetic Model ◽  
Case Control ◽  
New Method ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
Single Nucleotide ◽  
Hardy Weinberg Equilibrium ◽  
Equilibrium Test

AbstractCase-control genetic association study is an efficient tool to search for the deleterious genetic variants predispose to human complex diseases, where the additive mode of inheritance is commonly assumed. However, how the genetic variants influence the occurrence of a certain disease is impossible to know beforehand. We show numerically that the existing procedures using the Hardy-Weinberg equilibrium test to choose the genetic model might be inconsistent. We propose a new method to choose the genetic model by adopting co-dominant code for risk allele and logistic regression model. Extensive computer simulation results demonstrate superiorities of the new method. Applications to six single nucleotide polymorphisms(SNPs) for breast cancer and eight SNPs for Type 2 Diabetes further show good performances of proposed method. In order to specify a genetic model for an allele, our method has some merits and is consistent as sample size is large. We propose to apply our method in related fields.

scholarly journals Association of Glutathione S-transferases (GSTT1, GSTM1 and GSTP1) Genes Polymorphisms with Nonalcoholic Fatty Liver Disease Susceptibility: A Meta-analysis of Case-control Studies

2021 ◽  
Author(s):  
Yi Zhu ◽  
Ming Qiao
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Meta Analysis ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
Single Nucleotide ◽  
Nonalcoholic Fatty Liver ◽  
Glutathione S Transferases

Abstract Background: Glutathione S-transferases (GSTs) genes single-nucleotide polymorphisms (SNPs) have been connected with the susceptibility of nonalcoholic fatty liver disease (NAFLD), but with inconsistent results across the current evidences. The present work was schemed to explore the association between GSTs genes polymorphisms and the NAFLD vulnerability via meta-analysis.Methods: PubMed, Web of Science, Cochrane Library, China National Knowledge Infrastructure (CNKI) and Wanfang were retrieved for eligible literatures previous to March 10, 2021. The odds ratio (OR) of the dichotomic variables and the standardized mean difference of quantitative variables with corresponding 95% confidence intervals (95%CIs) were computed to evaluate the strength of the associations. The quality of included studies were assessed via using Newcastle-Ottawa Scale (NOS).Results: In total, 7 case-control studies encompassing 804 NAFLD patients and 1362 disease-free controls in this meta-analysis. Ultimately, this analysis included six, five and five studies for GSTM1, GSTT1 and GSTP1 polymorphisms respectively. The pooled data revealed that the GSTs genes single-nucleotide polymorphisms had conspicuous associations with NAFLD susceptibility: for GSTM1, null vs. present, OR=1.46, 95%CI 1.20-1.79, P=0.0002; for GSTT1, null vs. present, OR=1.34, 95%CI 1.06-1.68, P=0.01; for GSTP1, Ile/Val or Val/Val vs. Ile/Ile, OR=1.60, 95%CI 1.23-2.09, P=0.0005.Conclusion: This work revealed that the GSTM1 null, GSTT1 null and GSTP1-Val genotypes might be related to increased NAFLD susceptibility.

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