scholarly journals Polymorphic Investigation of ADCY2 and C7 Genes in Local Population of Oral Cancer

2021 ◽  
pp. 23-33
Author(s):  
Syeda Zahra Abbas ◽  
Ayesha Altaf ◽  
Syed Aun Muhammad ◽  
Tahir Naqqash ◽  
Muhammad Zubair ◽  
...  
Keyword(s):  
Oral Cancer ◽  
Genetic Variant ◽  
Local Population ◽  
Management Strategies ◽  
Allelic Frequency ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Biological Targets ◽  
Cancer Management ◽  
Hardy Weinberg Equilibrium

Single nucleotide polymorphisms (SNP) are responsible for genetic mutations. We studied genetic molecular variations and found an association of oral cancer with SNP of Adenylate Cyclase 2 (ADCY2) rs252546 and complement C7 (C7) rs1450656 genes in people of Southern Punjab, Pakistan. The study involves 100 cases of oral cancer and 100 healthy individuals. ADCY2 is found as a membrane-associated enzyme and C7 is involved in innate immunity. The process of genotyping was carried out by Tetra ARMS Primer PCR. The genetic variant of ADCY2 rs252546 has allelic origin G/A and C7 rs1450656 with C/T. The statistical analysis showed that the 51-60 years age group is significantly associated with oral cancer. The allelic frequency of ADCY2 rs252546 and C7 rs1450656 was calculated through Hardy Weinberg equilibrium. The homozygous mutant allele G of ADCY2 was more prevalent in cases and C allelic genotype was equally found in cases and controls. Other demographic and polymorphic studies indicated a significant association of variants of ADCY2 and C7 with oral cancer in the local population of Punjab. Variations in ADCY2 and C7 can be used as potential biomarkers and biological targets for oral cancer management strategies.

scholarly journals ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Ricardo M. Cerda-Flores ◽  
Karen Paola Camarillo-Cárdenas ◽  
Gabriela Gutiérrez-Orozco ◽  
Mónica Patricia Villarreal-Vela ◽  
Raquel Garza-Guajardo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Mexican Women ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Hardy Weinberg Equilibrium

Abstract Background Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it. Methods DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy–Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299. Results We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13–3.51, TT vs. GG; OR, 1.53; 95% CI 1.12–2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk. Conclusions Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.

Association Between Two Single-nucleotide Polymorphism of TAAR1 Gene and Suicide Attempts

2017 ◽  
Vol 41 (S1) ◽  
pp. S103-S103
Author(s):  
A. Zdanowicz ◽  
A. Sakowicz ◽  
E. Kusidel ◽  
P. Wierzbinski
Keyword(s):  
Suicide Attempts ◽  
Statistical Tests ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hardy Weinberg Equilibrium ◽  
The Mean ◽  
Competing Interest ◽  
G Protein Coupled ◽  
The Brain

IntroductionTAAR1 is a G protein-coupled receptor expressed broadly throughout the brain. Recently, TAAR1 has been demonstrated to be an important modulator of the dopaminergic, serotonergic and glutamatergic activity.AimsAssessment of the relation between two single-nucleotide polymorphisms of TAAR1 gene, suicide attempts and alcohol abuse.MethodsA total of 150 Polish patients were included, 59 subjects after suicide attempt vs. 91 controls. The chosen SNPs (rs759733834 and rs9402439) were studied using RFLP-PCR methods. The Hardy-Weinberg equilibrium was tested in control group.Statistical testsChi2 or Yeates Chi2 Test were used.ResultsThe mean age of study subjects and controls was: 38 ± 12.3 and 42 ± 12.8 respectively; 49% study males vs. 54% male controls. We did not observe the association between the carriage of the genotypes GG, GA and AA of rs759733834 polymorphisms in either of the groups. The distribution of genotypes in respect to rs9402439 polymorphism (CC, CG, GG) was also insignificant. Among patients with alcohol dependence, the frequency G allele of rs9402439 polymorphism was lower compared to non-addicted ones (27 vs. 47%) P < 0.01.ConclusionsTAAR1 polymorphisms rs759733834 and rs9402439 are not related to suicide attempts. The carriage of allele G of rs9402439 polymorphism is related to lower risk of alcohol addiction OR 0.40 95%Cl 0.20–0.81. To our knowledge, this is the first study on the TAAR1 receptor and the risk of suicide and it might offer a new insight into genetic etiology of TAAR1 receptor.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Detection of single nucleotide polymorphisms at major prolificacy genes in the Mehraban sheep and association with litter size

2018 ◽  
Vol 18 (3) ◽  
pp. 685-698 ◽  
Author(s):  
Reza Talebi ◽  
Ahmad Ahmadi ◽  
Fazlollah Afraz ◽  
Julien Sarry ◽  
Florent Woloszyn ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Litter Size ◽  
Potential Role ◽  
Chromosome 6 ◽  
The Novel ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hardy Weinberg Equilibrium ◽  
Gdf9 Gene

Abstract The present study aimed to investigate the presence of polymorphisms at four known genes controlling ovine prolificacy i.e. BMP15, GDF9, BMPR1B and B4GALNT2 in a sample of 115 Iranian Mehraban ewes and their association with litter size (LS) and lambs’ birth weight (BW) traits. Using Sanger sequencing of exons and polymorphism specific genotyping, ten SNPs (Single Nucleotide Polymorphisms) were observed in only two genes, GDF9 and BMPR1B. Seven SNPs were found in the GDF9 gene on the chromosome 5. Among them, six were already described in the coding sequence, and a new one (g.41840985C>T) was found in the 3’UTR. In the BMPR1B gene on the chromosome 6, three novel SNPs were detected in the exon 7 (g.29382184G>A; g.29382337G>A and g.29382340G>A). Allelic frequencies were established for six SNPs among the ten identified and they were in Hardy-Weinberg equilibrium. A significant association was found between the novel SNPs found in the exon 7 of BMPR1B and LS. Present results indicate the potential role of the BMPR1B locus in controlling prolificacy of Mehraban sheep and provide genetic markers for further exploitation in selection to improve reproductive efficiency.

scholarly journals Association of genetic variants in STAT5B gene with milk performance and mastitis related traits in dairy cattle

2021 ◽  
Vol 91 (5) ◽  
pp. 459-471
Author(s):  
Nawab Ali ◽  
◽  
Sadaf Niaz ◽  
Irfan Khattak ◽  
Naimat U. Khan ◽  
...  
Keyword(s):  
Dairy Cattle ◽  
Association Analysis ◽  
Milk Composition ◽  
Clinical Mastitis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Exon 2 ◽  
Holstein Friesian ◽  
Hardy Weinberg Equilibrium ◽  
Milk Performance

Udder performance and health are important traits in dairy cattle worldwide. The present study aimed to explore the association of single nucleotide polymorphisms (SNPs) in the STAT5B gene in dairy cattle with milk performance and mastitis related traits. The study included 201 cows of three pure breeds (i.e. Holstein Friesian, Jersey and Achai) and two crossbred cattle at four established dairy farms in Khyber Pakhtunkhwa, Pakistan. The milk samples were analysed for somatic cell count (SCC) and milk composition (i.e. fat , protein and lactose percentages). The generalized linear model was deployed for association analysis using SAS. The pool DNA sequencing showed four (three synonymous and a 3/ UTR) SNPs in STAT5B. These SNPs were further validated in all DNA samples using SNaPshot assay. The breed-wise analysis showed that most of the SNPs were consistent with Hardy-Weinberg equilibrium (P>0.05). The association analysis revealed a significantly higher protein percentage in TT genotype and lower SCC in CC genotypes of SNP 1 (exon 2, C>T), whereas in SNP 2 (exon 16, T>C) the TT genotypes revealed significantly lower SCC and SCS compared with other genotypes (P<0.05). SNP 4 (3/ UTR, C>T) showed significantly lower SCC and frequency of clinical mastitis in the heterozygous (CT) genotype compared to the homozygous genotypes. The in silico predictions revealed changes in the RNA secondary structure for SNP 2 and SNP 3. The study suggests that STAT5B should be considered as a candidate gene, and the variants identified as useful genetic markers for improved milk composition and udder health.

scholarly journals Development a Set of 46 SNP Markers for the Yellow Catfish (Tachysurus Fulvidraco)

2021 ◽  
Author(s):  
Huaxing Zhou ◽  
Tingshuang Pan ◽  
Huan Wang ◽  
He Jiang ◽  
Jun Ling ◽  
...  
Keyword(s):  
Snp Markers ◽  
Whole Genome ◽  
Nucleotide Polymorphisms ◽  
Yellow Catfish ◽  
Genome Resequencing ◽  
Single Nucleotide ◽  
Expected Heterozygosity ◽  
Hardy Weinberg Equilibrium ◽  
Whole Genome Resequencing ◽  
Tachysurus Fulvidraco

Abstract The whole genome resequencing was used to develop single nucleotide polymorphisms (SNP) markers for the yellow catfish (Tachysurus fulvidraco). A total of 46 SNP markers were selected from 5550676 genotyping markers which distributed on 26 chromosomes. Of the 46 SNPs analyzed, 35 SNPs conformed to Hardy-Weinberg equilibrium. The observed and expected heterozygosity of these markers ranged from 0.2519 to 0.771 and from 0.265 to 0.5018, respectively. This set of markers will be of great useful for population genetics of the yellow catfish.

SINGLE NUCLEOTIDE POLYMORPHISMS IN ORAL CANCER: A REVIEW

2021 ◽  
pp. 28-31
Author(s):  
Bindiya Narang ◽  
Revati Deshmukh ◽  
Sangeeta J Palaskar ◽  
Manjiri Joshi
Keyword(s):  
Oral Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Health Concern ◽  
Genetic Constitution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Major Health ◽  
Tobacco Usage ◽  
Risk Predisposition

Oral cancer is a major health concern as it can cause signicant morbidity and mortality. A dose response relation has been established between oral cancer and tobacco usage. Though tobacco and alcohol have been long associated with the disease, genetic factors also play an important role in its pathogenesis. Various genetic mutations and epigenetic regulations are associated with the etiology of Oral Cancer. The focus of the current review is to emphasize the role of most common genomic variants known as single nucleotide polymorphisms in oral cancer. Single Nucleotide Polymorphisms also known as SNPs are precise nucleotide sites in the human genome where in, it is possible to have two or more different nucleotides at a specic position on a chromosome. These are the most common type of variations occurring in the genetic constitution. SNP studies in various populations emphasize association of SNPs with risk predisposition or susceptibility to oral cancer.

scholarly journals Identification of a functional genetic variant driving racially dimorphic platelet gene expression of the thrombin receptor regulator, PCTP

2017 ◽  
Vol 117 (05) ◽  
pp. 962-970 ◽  
Author(s):  
Xianguo Kong ◽  
Lukas Simon ◽  
Michael Holinstat ◽  
Chad Shaw ◽  
Paul Bray ◽  
...  
Keyword(s):  
Gene Expression ◽  
Allelic Frequency ◽  
Expression Level ◽  
Eqtl Analysis ◽  
Nucleotide Polymorphisms ◽  
Genomic Locus ◽  
Single Nucleotide ◽  
Single Nucleotide Change ◽  
Public Data ◽  
Trait Locus

SummaryPlatelet activation in response to stimulation of the Protease Activated Receptor 4 (PAR4) receptor differs by race. One factor that contributes to this difference is the expression level of Phosphatidylcholine Transfer Protein (PCTP), a regulator of platelet PAR4 function. We have conducted an expression Quantitative Trait Locus (eQTL) analysis that identifies single nucleotide polymorphisms (SNPs) linked to the expression level of platelet genes. This analysis revealed 26 SNPs associated with the expression level of PCTP at genome-wide significance (p < 5×10–8). Using annotation from ENCODE and other public data we prioritised one of these SNPs, rs2912553, for functional testing. The allelic frequency of rs2912553 is racially-dimorphic, in concordance with the racially differential expression of PCTP. Reporter gene assays confirmed that the single nucleotide change caused by rs2912553 altered the transcriptional potency of the surrounding genomic locus. Electromobility shift assays, luciferase assays, and overexpression studies indicated a role for the megakaryocytic transcription factor GATA1. In summary, we have integrated multi-omic data to identify and functionalise an eQTL. This, along with the previously described relationship between PCTP and PAR4 function, allows us to characterise a genotype-phenotype relationship through the mechanism of gene expression.

scholarly journals TGF-β1 and IL-10 single nucleotide polymorphisms as risk factors for oral cancer in Taiwanese

2015 ◽  
Vol 31 (3) ◽  
pp. 123-129 ◽  
Author(s):  
Han-Jen Hsu ◽  
Yi-Hsin Yang ◽  
Tien-Yu Shieh ◽  
Chung-Ho Chen ◽  
Yu-Hsun Kao ◽  
...  
Keyword(s):  
Risk Factors ◽  
Oral Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Tgf Β1

Association Study of Serotonin Transporter Gene (SLC6A4) in Systemic Sclerosis in European Caucasian Populations

2010 ◽  
Vol 37 (6) ◽  
pp. 1164-1167 ◽  
Author(s):  
JULIEN WIPFF ◽  
PIERRE BONNET ◽  
BARBARA RUIZ ◽  
PHILIPPE DIEUDE ◽  
JEROME AVOUAC ◽  
...  
Keyword(s):  
Serotonin Transporter ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Vascular Phenotype ◽  
Internalization Process ◽  
Caucasian Origin ◽  
Hardy Weinberg Equilibrium ◽  
Pulmonary Arterial ◽  
Polymerase Chain ◽  
Base Pair Insertion

Objective.Serotonin is a key contributing factor in pulmonary arterial hypertension (PAH) by inducing pulmonary arterial smooth muscle cell (PA-SMC) proliferation. This relates specifically to the internalization process in PA-SMC of the serotonin transporter (SLC6A4 or 5-HTT). A long (L)/short (S) (44 base pair insertion) functional polymorphism within the promoter of the transporter SLC6A4 gene has been reported to be associated with familial and idiopathic PAH. Our objective was to determine whether polymorphisms of SLC6A4 confer susceptibility to SSc and its vascular phenotype.Methods.Three Tag single-nucleotide polymorphisms (SNP) (rs2066713, rs1042173, rs6354) chosen using Hapmap and linkage disequilibrium data were genotyped in a total cohort of 667 SSc patients (56 with PAH, 207 with digital ulcerations) and 447 controls. All individuals were of French Caucasian origin. L/S polymorphism genotyping was determined by polymerase chain reaction in a random subgroup of 364 SSc patients (34 with PAH, 138 with digital ulcerations) and 218 controls.Results.Three polymorphisms (L/S, rs2066713, rs1042173) were in Hardy-Weinberg equilibrium in the control population, but rs6354 deviated. Allelic and genotypic frequencies for these 3 polymorphisms were similar in SSc patients and controls. Subphenotype analyses of subsets with PAH and digital ulceration did not detect any difference between SSc patients compared to controls.Conclusion.These results from a large cohort of European Caucasian SSc patients do not support the implication of SLC6A4 in the pathogenesis of SSc and its vascular subphenotypes. However, serotonin pathways remain good candidates to contribute to the vasculopathy of SSc.

Sign in / Sign up

Export Citation Format

Share Document