scholarly journals Single Nucleotide and Copy-Number Variants in IL4 and IL13 Are Not Associated with Asthma Susceptibility or Inflammatory Markers: A Case-Control Study in a Mexican-Mestizo Population

Diagnostics ◽  
2020 ◽  
Vol 10 (5) ◽  
pp. 273
Author(s):  
Enrique Ambrocio-Ortiz ◽  
Gustavo Galicia-Negrete ◽  
Gloria Pérez-Rubio ◽  
Areli J. Escobar-Morales ◽  
Edgar Abarca-Rojano ◽  
...  
Keyword(s):  
Copy Number ◽  
Case Control Study ◽  
Copy Number Variants ◽  
Case Control ◽  
Single Nucleotide ◽  
Mexican Mestizo ◽  
Asthma Susceptibility ◽  
Cytokine Levels ◽  
Mexican Mestizo Population ◽  
Control Study

Background: Asthma is a complex and chronic inflammatory airway disease. Asthma’s etiology is unknown; however, genetic and environmental factors could affect disease susceptibility. We designed a case-control study aimed to evaluate the role of single-nucleotide polymorphisms (SNP), and copy-number variants (CNV) in the IL4 and IL13 genes in asthma susceptibility and their participation in plasma cytokine levels depending on genotypes Methods: We include 486 subjects, divided into asthma patients (AP, n = 141) and clinically healthy subjects (CHS, n = 345). We genotyped three SNP, two in the IL4 and two in the IL13 gene; also, two CNVs in IL4. The IL-4, IL-13 and IgE plasma levels were quantified. Results: Biomass-burning smoke exposure was higher in the AP group compared to CHS (47.5% vs. 20.9%; p < 0.01, OR = 3.4). No statistical differences were found in the genetic association analysis. In both CNV, we only found the common allele. For the analysis of IL-4, IL-13, and IgE measures stratified by genotypes, no significant association or correlation was found. Conclusion: In the Mexican-mestizo population, SNPs neither CNVs in IL4 nor IL13 are associated with asthma susceptibility or involved serum cytokine levels. Biomass-burning smoke is a risk factor in asthma susceptibility.

Genetic Susceptibility to Lung Cancer Based on Candidate Genes in a Sample from the Mexican Mestizo Population: A Case–Control Study

Lung ◽  
2013 ◽  
Vol 192 (1) ◽  
pp. 167-173 ◽  
Author(s):  
R. Pérez-Morales ◽  
I. Méndez-Ramírez ◽  
H. Moreno-Macias ◽  
A. D. Mendoza-Posadas ◽  
O. C. Martínez-Ramírez ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Genetic Susceptibility ◽  
Candidate Genes ◽  
Case Control Study ◽  
Case Control ◽  
Mexican Mestizo ◽  
Mexican Mestizo Population ◽  
Control Study

Lack of support for association between the copy number variants in the FCGR locus and schizophrenia: A case control study

2012 ◽  
Vol 522 (2) ◽  
pp. 85-91
Author(s):  
Arman Zhao ◽  
Yuqian Xiang ◽  
Jiawei Xu ◽  
Qiaoli Li ◽  
Lei Wang ◽  
...  
Keyword(s):  
Copy Number ◽  
Case Control Study ◽  
Copy Number Variants ◽  
Case Control ◽  
Control Study

Genetic Obesity Risk and Attenuation Effect of Physical Fitness in Mexican-Mestizo Population: a Case-Control Study

2017 ◽  
Vol 81 (3) ◽  
pp. 106-116 ◽  
Author(s):  
Paula Costa-Urrutia ◽  
Carolina Abud ◽  
Valentina Franco-Trecu ◽  
Valentina Colistro ◽  
Martha Eunice Rodríguez-Arellano ◽  
...  
Keyword(s):  
Physical Fitness ◽  
Case Control Study ◽  
Case Control ◽  
Obesity Risk ◽  
Attenuation Effect ◽  
Mexican Mestizo ◽  
Genetic Obesity ◽  
Mexican Mestizo Population ◽  
Control Study

scholarly journals Association between CTSS gene polymorphism and the risk of acute atherosclerotic cerebral infarction in Chinese population: a case–control study

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Lian Luo ◽  
Mingli Zhu ◽  
Jiajun Zhou
Keyword(s):  
Cerebral Infarction ◽  
Case Control Study ◽  
Case Control ◽  
Cathepsin S ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Independent Risk Factors ◽  
Control Study

Objective: To investigate the association between the gene polymorphisms of rs774320676, rs768437857, rs928508030, and rs2275235 loci of Cathepsin S (CTSS) and risk of acute atherosclerotic cerebral infarction. Methods: A total of 315 patients with acute atherosclerotic cerebral infarction (study group) and 220 healthy subjects (control group) were enrolled in the present study. The genetic polymorphism of rs774320676, rs768437857, rs928508030, and rs2275235 loci of CTSS of subjects was analyzed by PCR-Sanger sequencing. Results: The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of CTSS in study group was significantly higher than the proportion in control group (P=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200–1.460; P<0.001, adjusted OR = 1.185, 95% CI = 1.055–1.314; P=0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of CTSS were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020–4.652, P=0.006; OR = 2.016, 95% CI = 1.031–4.385, P=0.031). Conclusion: The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of CTSS gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of CTSS were genetic susceptibility genes of acute atherosclerotic cerebral infarction.

scholarly journals Identification of High-Order Single-Nucleotide Polymorphism Barcodes in Breast Cancer Using a Hybrid Taguchi-Genetic Algorithm: Case-Control Study

10.2196/16886 ◽  
2020 ◽  
Vol 8 (6) ◽  
pp. e16886
Author(s):  
Li-Yeh Chuang ◽  
Cheng-San Yang ◽  
Huai-Shuo Yang ◽  
Cheng-Hong Yang
Keyword(s):  
Breast Cancer ◽  
Genetic Algorithm ◽  
Taguchi Method ◽  
Case Control Study ◽  
Breast Cancer Case ◽  
Case Control ◽  
High Order ◽  
Cancer Case ◽  
Single Nucleotide ◽  
Control Study

Background Breast cancer has a major disease burden in the female population, and it is a highly genome-associated human disease. However, in genetic studies of complex diseases, modern geneticists face challenges in detecting interactions among loci. Objective This study aimed to investigate whether variations of single-nucleotide polymorphisms (SNPs) are associated with histopathological tumor characteristics in breast cancer patients. Methods A hybrid Taguchi-genetic algorithm (HTGA) was proposed to identify the high-order SNP barcodes in a breast cancer case-control study. A Taguchi method was used to enhance a genetic algorithm (GA) for identifying high-order SNP barcodes. The Taguchi method was integrated into the GA after the crossover operations in order to optimize the generated offspring systematically for enhancing the GA search ability. Results The proposed HTGA effectively converged to a promising region within the problem space and provided excellent SNP barcode identification. Regression analysis was used to validate the association between breast cancer and the identified high-order SNP barcodes. The maximum OR was less than 1 (range 0.870-0.755) for two- to seven-order SNP barcodes. Conclusions We systematically evaluated the interaction effects of 26 SNPs within growth factor–related genes for breast carcinogenesis pathways. The HTGA could successfully identify relevant high-order SNP barcodes by evaluating the differences between cases and controls. The validation results showed that the HTGA can provide better fitness values as compared with other methods for the identification of high-order SNP barcodes using breast cancer case-control data sets.

scholarly journals A Case-control Study on the Association of Mitochondrial Transcription Factor a Gene +35G/C Polymorphism and Mitochondrial DNA Copy Number with the Risk of Endometriosis in Indian Women

2021 ◽  
pp. 60-67
Author(s):  
Himabindu Beeram ◽  
Tumu Venkat Reddy ◽  
Suresh Govatati ◽  
Swapna Siddamalla ◽  
Mamata Deenadayal ◽  
...  
Keyword(s):  
Copy Number ◽  
Case Control Study ◽  
Case Control ◽  
Mtdna Copy Number ◽  
Chain Reaction ◽  
Indian Women ◽  
Mitochondrial Transcription Factor ◽  
Mitochondrial Transcription Factor A ◽  
Polymerase Chain ◽  
Control Study

Aim: The Mitochondrial transcription factor A (TFAM) and mitochondrial (mt) DNA copy number variations are known to contribute in disease development. Genetic factors play an important role in the development of endometriosis. Therefore, this case–control study aimed to analyze the association of TFAM+35G/C polymorphism and mitochondrial copy number with the risk of endometriosis in Indian women. Study Design: This study was carried out on 418 subjects including 200 endometriosis cases and 218 controls. Methodology: Genotyping of TFAM +35G/C polymorphism (rs1937) was carried out by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Quantification of mtDNA copy number was carried out using a real time quantitative polymerase chain reaction (qRT-PCR). Place and Duration of Study: Department of Biochemistry, Osmania University, 2014 to 2020. Results: TFAM genotype as well as allele distributions were all in Hardy-Weinberg equilibrium. The results indicated a significant reduction of GG genotype frequency (P=0.009), high ‘C’ allele frequency (P=0.017) and significantly decreased mtDNA copy number in endometriosis cases compared to controls (P= 0.0001). Conclusion: Present study revealed a statistically significant association of decreased GG genotype of TFAM +35G/C polymorphism and mtDNA copy number with the risk of developing endometriosis in Indian women.

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