scholarly journals Genotyping analysis of the Pax9 Gene in patients with maxillary canine impaction

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 254 ◽  
Author(s):  
Evy Eida Vitria ◽  
Iwan Tofani ◽  
Lindawati Kusdhany ◽  
Endang Winiati Bachtiar
Keyword(s):  
Inclusion Criteria ◽  
Nucleotide Polymorphism ◽  
Chromosome 14 ◽  
Control Groups ◽  
Maxillary Canine ◽  
Single Nucleotide ◽  
Ncbi Dbsnp ◽  
Polymerase Chain ◽  
And Control ◽  
The Relationship

Background: Paired-box gene 9 (PAX9) mutation is potentially associated with impaction in some patient populations. Here, we analyzed the relationship between PAX9 polymorphism and the occurrence of maxillary canine impaction. Methods: Patients with and without maxillary canine impaction were selected based on specific inclusion criteria, and samples of genomic DNA were obtained from a buccal mucosa swab. DNA was amplified by polymerase chain reaction and sequenced for further bioinformatics analysis to identify single nucleotide polymorphism (SNP) genotypes. Genotype and allele counting was performed in both case and control groups prior to conducting statistical analysis. Results: Four SNPs were identified in patients with maxillary canine impaction, with relative confidence determined based on chromatogram-peak assessment. All SNPs were located in exon 3 of PAX9 and in the region sequenced by the primer pair −197Fex3 and +28Rex3. Three of the SNPs (rs375436662, rs12881240, and rs4904210) were reported previously and are annotated in NCBI (dbSNP version 150), whereas another SNP mapped to chromosome 14 has not been reported. Patients with a CC genotype at SNP 3 [odds ratio (OR): 2.61 vs. TT; 1.28 vs. CT] and a CC genotype at SNP 4 [OR: 0.71 vs. GG; 0.79 vs. CG] were more likely to have maxillary canine impaction. Conclusions: These results demonstrated that the presence of SNPs 3 and 4 is associated with increased likelihood of suffering from maxillary canine impaction.

scholarly journals Variations in MHC-DRB1 exon2 and associations with Brucellosis susceptibility in Chinese Merino sheep

2016 ◽  
Author(s):  
Yue’e Chen ◽  
Wanyun Xu ◽  
Chuangfu Chen ◽  
Hugh T Blair ◽  
Jianfeng Gao
Keyword(s):  
Haplotype Analysis ◽  
Nucleotide Polymorphisms ◽  
Control Groups ◽  
Single Nucleotide ◽  
Merino Sheep ◽  
Pcr Products ◽  
Polymerase Chain ◽  
And Control ◽  
Control Samples ◽  
Online Software

MHC-DRB1 exon2 was amplified by polymerase chain reaction (PCR) from 126 healthy and 67 Brucellosis-infected Chinese Merino sheep. PCR products were analyzed using the SSCP technique, and then cloned to allow sequencing of the different alleles. For each SNP, allelic and genotypic frequencies were compared between case and control samples, in addition the association with Brucellosis susceptibility was determined. Haplotypes and their frequencies were established and analyzed by SHEsis online software. There were forty-one single nucleotide polymorphisms (SNPs) in the 270 bp DNA sequence. The distribution of C>T alleles at locus 109 was significantly different between case and control samples. The linkage disequilibrium (LD) analysis showed that there were nine LD blocks in MHC-DRB1 exon2 and strong LD between SNPs existed in every Block. Haplotype analysis identified nine haplotypes with strong LD, but only Hap8 and Hap9 in case-control groups were significantly different (P<0.05); neither haplotype contained the C>T allele at locus 109. In conclusion, genetic variants of MHC-DRB1 gene exon2 demonstrated associations with Brucellosis susceptibility, indicating that further research is warranted.

scholarly journals A STAT6 Intronic Single-Nucleotide Polymorphism is Associated with Clinical Malaria in Ghanaian Children

2016 ◽  
Vol 8 ◽  
pp. GEG.S38307 ◽  
Author(s):  
Daniel Amoako-Sakyi ◽  
Selorme Adukpo ◽  
Kwadwo A. Kusi ◽  
Daniel Dodoo ◽  
Michael F. Ofori ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Clinical Malaria ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Total Ige ◽  
Cytokine Levels ◽  
Polymerase Chain ◽  
The Relationship ◽  
Intronic Single Nucleotide Polymorphism ◽  
Malaria Severity

Malaria pathogenesis may be influenced by IgE responses and cytokine cross-regulation. Several mutations in the IL-4/STAT6 signaling pathway can alter cytokine cross-regulation and IgE responses during a Plasmodium falciparum malarial infection. This study investigated the relationship between a STAT6 intronic single-nucleotide polymorphism (rs3024974), total IgE, cytokines, and malaria severity in 238 Ghanaian children aged between 0.5 and 13 years. Total IgE and cytokine levels were measured by ELISA, while genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (RFLP). Compared with healthy controls, heterozygosity protected against clinical malaria: uncomplicated malaria (odds ratios [OR] = 0.13, P < 0.001), severe malarial anemia (OR = 0.18, P < 0.001), and cerebral malaria (OR = 0.39, P = 0.022). Levels of total IgE significantly differed among malaria phenotypes (P = 0.044) and rs3024974 genotypes (P = 0.037). Neither cytokine levels nor IL-6/IL-10 ratios were associated with malaria phenotypes or rs3024974 genotypes. This study suggests a role for rs3024974 in malaria pathogenesis and offers further insights into an IL-4/STAT6 pathway mutation in malaria pathogenesis.

scholarly journals Germline mutation analysis of Tpit in Poodle dogs with ACTH-dependent hyperadrenocorticism

2012 ◽  
Vol 64 (4) ◽  
pp. 853-859
Author(s):  
V. De Marco ◽  
L.R. Carvalho ◽  
A.E.C. Billerbeck ◽  
B.B. Mendonça
Keyword(s):  
Genomic Dna ◽  
Terminal Differentiation ◽  
Germline Mutations ◽  
Coding Region ◽  
Nucleotide Polymorphism ◽  
Control Groups ◽  
Single Nucleotide ◽  
Automatic Sequence ◽  
High Incidence ◽  
And Control

There is a high incidence of pituitary-dependent hyperadrenocorticism (PDH) in Poodle dogs, with family members being affected by the disease, suggesting a genetic involvement. Tpit is an obligate transcription factor for the expression of pro-opiomelanocortingene and for corticotroph terminal differentiation. The aim of the present study was to screen the Tpit gene for germline mutations in Poodles with PDH. Fifty Poodle dogs (33 female, 8.71±2.8 years) with PDH and 50 healthy Poodle dogs (32 females, 9.4241 2.8 years) were studied. Genomic DNA was isolated from peripheral blood, amplified by PCR and submitted to automatic sequence. No mutation in the coding region of Tpit was found, whereas the new single nucleotide polymorphism p.S343G, in heterozygous state, was found in the same frequency in both PDH and control groups. We concluded that Tpit gain-of-function mutations are not involved in the etiology of PDH in Poodle dogs.

scholarly journals The Relationship Between Infertility and Infection with Clarithromycin Resistant Strain of Helicobacter Pylori in Iraq

2020 ◽  
pp. 1874-1879
Author(s):  
Shiamaa G. Abid ◽  
Rana S. Aboud
Keyword(s):  
Helicobacter Pylori ◽  
Seminal Fluid ◽  
Control Group ◽  
Control Groups ◽  
Significant Difference ◽  
Polymerase Chain ◽  
H Pylori ◽  
And Control ◽  
The Relationship ◽  
Infertile Patients

The relationship between infertility and Helicobacter pylori infection was investigated; samples from thirty-five infertile patients (aged 20-49 years) were collected from Kamal Al-Samaraei hospital , Baghdad, Iraq during the period from the first of February until April 2018. These patients were compared with 10 apparently fertile individuals who served as a control. The study was carried out to detect the DNA of H.pylori in both serum and seminal fluid of male infertile patients and for the control group by Real-Time Polymerase Chain Reaction (RT-PCR) technique. The results revealed that there was a significant difference (P<0.01) in the detection of DNA of H.pylori between patients and control groups. thereby the percentage level of H.pylori DNA in serum was 80% and in the seminal fluid was 0 %. As a result, we strongly suggest that the infection with H. pylori plays an important role in male infertility.

Polymorphic variants of MnSOD Val16Ala, CAT-262 C < T and GPx1 Pro198Leu genotypes and the risk of laryngeal cancer in a smoking population

2013 ◽  
Vol 127 (10) ◽  
pp. 997-1000 ◽  
Author(s):  
G Aynali ◽  
M Doğan ◽  
R Sütcü ◽  
Ö Yüksel ◽  
M Yariktaş ◽  
...  
Keyword(s):  
Laryngeal Cancer ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Smoking Intensity ◽  
Cancer Group ◽  
Smoking Duration ◽  
Polymerase Chain ◽  
And Control ◽  
The Relationship

AbstractObjective:To investigate the relationship between development of laryngeal cancer and the presence of polymorphisms of the MnSOD Val16Ala, CAT-262 C < T and GPx1 Pro198Leu genes in a smoking population.Patients and methods:Single nucleotide polymorphisms were determined in DNA from the peripheral blood erythrocytes of 48 heavy smokers (25 patients with laryngeal cancer and 23 cancer-free controls), using polymerase chain reaction.Results:There were no significant differences in age, smoking duration or smoking intensity, comparing the two groups. The homozygous AA genotype of MnSOD Val16Ala was significantly more prevalent in the cancer group than the control group (92vs13 per cent, respectively), while the heterozygous AV genotype of MnSOD Val16Ala was more prevalent in the control group than the cancer group (87vs8 per cent, respectively) (p < 0.001). There were no significant differences between the cancer and control groups regarding GPx1 Pro198Leu or CAT-262 C < T polymorphisms.Conclusion:Polymorphism of the MnSOD Val16Ala gene may contribute to susceptibility to laryngeal cancer among smokers.

scholarly journals Advanced Oxidation Protein Products and the CLOCK 3111T/C Single Nucleotide Polymorphism in Menopausal Women with Insomnia

2020 ◽  
Vol 10 (4) ◽  
pp. 352-356
Author(s):  
Natalya V. Semenova Natalya V. Semenova ◽  
Irina Madaeva ◽  
Anastasiya Brichagina ◽  
Olga Nikitina ◽  
Sergey Kolesnikov ◽  
...  
Keyword(s):  
Pittsburgh Sleep Quality Index ◽  
Advanced Oxidation ◽  
Severity Index ◽  
Nucleotide Polymorphism ◽  
Control Groups ◽  
Advanced Oxidation Protein Products ◽  
Single Nucleotide ◽  
Menopausal Women ◽  
And Control ◽  
Insomnia Severity

Background: The aim of this study was to assess the dependence of advanced oxidation protein products (AOPPs) levels on the genotype of the CLOCK 3111T/C SNP in Caucasian menopausal women with and without insomnia. Methods and Results: The study involved 105 Caucasian menopausal women volunteers aged between 45 and 60 years. The Pittsburgh Sleep Quality Index, PSQI, Insomnia Severity Index (ISI), and Epworth Sleepiness Scale (ESS) were employed. The study of the CLOCK 3111T/C SNP (rs1801260) was performed by PCR. The blood level of advanced oxidation protein products (AOPPs) was detected by IEMA. Based on the results of a clinical-anamnestic examination, the women were divided into two groups: the main (with insomnia) and the control (without insomnia). Given the small number of women carrying the CC genotype of the CLOCK 3111T/C SNP, the СС carriers and TC carriers were combined into one group as the carriers of the minor 3111C allele. There were no statistically significant differences in the AOPP levels between carriers of different genotypes (TT genotype and TC+CC genotypes) in controls and patients. A comparative analysis of AOPP levels in the women of the main and control groups showed higher AOPP levels in women with insomnia carrying the TT genotype than in the control of the same genotype (P=0.013). Conclusion: Insomnia in menopausal women is associated with increased protein oxidation only in carriers of the TT genotype of the CLOCK 3111T/C SNP.

Three novel genetic variants in the FAM110D, CACNA1A and NLRP12 genes are associated with susceptibility to hypertension among Dai people

2021 ◽  
Author(s):  
Lin Zhang ◽  
Yun Sun ◽  
Xiaochao Zhang ◽  
Xiyun Shan ◽  
Jianmei Li ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Multiple Logistic Regression Analysis ◽  
Candidate Snps ◽  
Nucleotide Polymorphisms ◽  
Control Groups ◽  
Single Nucleotide ◽  
Future Studies ◽  
And Control ◽  
The Relationship ◽  
Generation Sequencing

Abstract Background Although the genetic factors associated with hypertension remain unknown, genetic variations in genes related to ion channels, inflammation, and the cell cycle may affect susceptibility to hypertension. In the present study, the association between hypertension and 10 candidate single-nucleotide polymorphisms (SNPs) was evaluated among Chinese Dai people, who have a smaller gene pool than Han individuals. Methods A total of 1193 samples from Dai people were collected, including 488 with hypertension and 705 with normal blood pressure. Based on the preliminary results of whole-genome sequencing among pools of individuals (Pool-seq), ten candidate SNPs in six genes (FAM110D, ADD1, RAG1, CACNA1C, CACNA1A, and NLRP12) were genotyped in the case and control groups by multiplex PCR for SNP genotyping with next-generation sequencing (MultiPCR-NGS). The relationship between hypertension and each candidate SNP was evaluated using the χ2 test and multiple logistic regression analysis. Results The χ2 test showed that the allele frequencies of rs3748856 in FAM110D, rs139118504 in CACNA1A, and rs34436714 in NLRP12 were significantly different between the case and control groups (P &lt; 0.005). After adjusting for age, BMI, TC, TG, and LDL, logistic regression analyses revealed that the association between the three SNPs and hypertension among Dai people remained significant (P = 0.012, 2.71 × 10 -4, and 0.017, respectively). Conclusion These findings indicate that there may be different molecular pathogeneses of hypertension among Dai people, which should be noted in future studies.

scholarly journals Human TERT promoter mutations as a prognostic biomarker in glioma

2021 ◽  
Vol 147 (4) ◽  
pp. 1007-1017
Author(s):  
Branka Powter ◽  
Sarah A. Jeffreys ◽  
Heena Sareen ◽  
Adam Cooper ◽  
Daniel Brungs ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Nucleotide Polymorphism ◽  
Liquid Biopsies ◽  
Single Nucleotide ◽  
Tert Promoter ◽  
Tert Promoter Mutations ◽  
Potential Clinical Utility ◽  
Promoter Mutations ◽  
The Relationship ◽  
Potential Use

AbstractThe TERT promoter (pTERT) mutations, C228T and C250T, play a significant role in malignant transformation by telomerase activation, oncogenesis and immortalisation of cells. C228T and C250T are emerging as important biomarkers in many cancers including glioblastoma multiforme (GBM), where the prevalence of these mutations is as high as 80%. Additionally, the rs2853669 single nucleotide polymorphism (SNP) may cooperate with these pTERT mutations in modulating progression and overall survival in GBM. Using liquid biopsies, pTERT mutations, C228T and C250T, and other clinically relevant biomarkers can be easily detected with high precision and sensitivity, facilitating longitudinal analysis throughout therapy and aid in cancer patient management.In this review, we explore the potential for pTERT mutation analysis, via liquid biopsy, for its potential use in personalised cancer therapy. We evaluate the relationship between pTERT mutations and other biomarkers as well as their potential clinical utility in early detection, prognostication, monitoring of cancer progress, with the main focus being on brain cancer.

scholarly journals DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk

2021 ◽  
Vol 18 (14) ◽  
pp. 7486
Author(s):  
Mirosław Śnit ◽  
Maciej Misiołek ◽  
Wojciech Ścierski ◽  
Anna Koniewska ◽  
Grażyna Stryjewska-Makuch ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Laryngeal Cancer ◽  
Basic Research ◽  
Control Groups ◽  
Allele Distribution ◽  
Study Results ◽  
Risk Patients ◽  
And Control ◽  
The Relationship

AIM, DIAPH2, PTPRD and HIC1 are the cell glycoprotein, which play an important role in the occurrence and development of tumors. This study was designed to assess the association between DIAPH2, PTPRD and HIC1 SNPs and laryngeal cancer risk. PATIENTS AND METHODS: This study including 267 patients with histologically confirmed laryngeal cancer and 157 controls. The relationship between genetic variations DIAPH2 (rs6620138), PTPRD (rs3765142) and HIC1 (rs9901806) and the onset of laryngeal cancer were investigated. Statistical analysis to calculate the relationship between DIAPH2, PTPRD and HIC1 genes polymorphism and pathogenesis of laryngeal cancer. RESULTS: The results showed that rs6620138 DIAPH2 polymorphism could increase the onset risk of laryngeal cancer. Statistically significant differences in allele distribution of rs6620138 DIAPH2 and rs9901806 HIC1 in the case and control groups subgroups. CONCLUSIONS: This study results suggested that genetic variation of rs6620138 DIAPH2 polymorphism is related to the susceptibility to laryngeal cancer. Our results provide a basis to begin basic research on the role of DIAPH2 gene in the pathogenesis of laryngeal cancer.

scholarly journals Polymorphisms of Fatty Acid Elongase 2 Gene Afftects Risk of Pulmonary Tuberculosis in China Han Population

2021 ◽  
Author(s):  
Min Mu ◽  
Li Jing ◽  
Yuan-Jie Zou ◽  
Xing-Rong Tao ◽  
Fei Wang ◽  
...  
Keyword(s):  
Epidemiological Survey ◽  
Nucleotide Polymorphism ◽  
Dominance Model ◽  
Fatty Acid Elongase ◽  
Single Nucleotide ◽  
Female Population ◽  
Genetic Modeling ◽  
Male Patients ◽  
The Relationship ◽  
Control Study

Background: As an infectious disease closely related to Mycobacterium tuberculosis, autoimmunity, inflammation, environment and heredity, the relationship between the single nucleotide polymorphism of elongase 2 gene and the susceptibility to tuberculosis is still unknown. Methods: Between January 2016 and November 2018, a hospital-based case-control study was conducted. This epidemiological survey was conducted in both hospitals every three months. rs3798719, rs1570069, and rs2236212 in ELOVL2 gene were detected by Sanger sequencing. Results: Stratified by gender, the genotypes and allele frequencies of rs3798719, rs1570069 and rs2236212 showed significant differences between the two groups (χ2 = 6.987, P = 0.030), Genetic modeling showed that rs3798719 was statistically different in the overdominance model (χ2 = 4.784, OR = 1.414, 95% CI: 1.036-1.929, P < 0.05). The polymorphism of rs2236212 between male TB patients and healthy controls was statistically different in the dominance model. (χ2 = 4.192, OR = 0.507; 95% CI: 0.262-0.981, P < 0.05). Conclusion: The rs3798719 of ELOVL2 gene may be associated with susceptibility to TB in female population and the rs2236212 of ELOVL2 gene may be associated with TB incidence in male patients.

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