scholarly journals Analysis of HorseMyostatinGene and Identification of Single Nucleotide Polymorphisms in Breeds of Different Morphological Types

2010 ◽  
Vol 2010 ◽  
pp. 1-11 ◽  
Author(s):  
Stefania Dall'Olio ◽  
Luca Fontanesi ◽  
Leonardo Nanni Costa ◽  
Marco Tassinari ◽  
Laura Minieri ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Tata Box ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Analysis Of Molecular Variance ◽  
Molecular Variance ◽  
Intron 1 ◽  
Significant Difference ◽  
Intron 2 ◽  
Negative Modulator

Myostatin (MSTN) is a negative modulator of muscle mass. We characterized the horse (Equus caballus)MSTNgene and identified and analysed single nucleotide polymorphisms (SNPs) in breeds of different morphological types. Sequencing of coding, untranslated, intronic, and regulatory regions ofMSTNgene in 12 horses from 10 breeds revealed seven SNPs: two in the promoter, four in intron 1, and one in intron 2. The SNPs of the promoter (GQ183900:g.26TC and GQ183900:g.156TC, the latter located within a conserved TATA-box like motif) were screened in 396 horses from 16 breeds. The g.26C and the g.156C alleles presented higher frequency in heavy (brachymorphic type) than in light breeds (dolichomorphic type such as Italian Trotter breed). The significant difference of allele frequencies for the SNPs at the promoter and analysis of molecular variance (AMOVA) on haplotypes indicates that these polymorphisms could be associated with variability of morphology traits in horse breeds.

scholarly journals Sex Differences in Circadian Clock Genes and Myocardial Infarction Susceptibility

2021 ◽  
Vol 8 (5) ◽  
pp. 53
Author(s):  
Ivana Škrlec ◽  
Jasminka Talapko ◽  
Martina Juzbašić ◽  
Robert Steiner
Keyword(s):  
Myocardial Infarction ◽  
Cardiovascular Disease ◽  
Circadian Rhythm ◽  
Single Nucleotide Polymorphisms ◽  
Clock Genes ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Biological Sex ◽  
Significant Difference

The growing body of evidence shows a significant difference in the circadian rhythm of cardiovascular disease based on biological sex. The incidence of cardiovascular disease varies between women and men. Additionally, biological sex is vital for the timely application of therapy—chronotherapy, which benefits both sexes. This study aimed to examine the potential difference of single nucleotide polymorphisms (SNPs) of the circadian rhythm genes ARNTL, CLOCK, CRY2 and PER2 in women and men with myocardial infarction. A cross-sectional study was conducted, including 200 patients with myocardial infarction. Altogether, ten single nucleotide polymorphisms in the ARNTL, CLOCK, CRY2 and PER2 genes were analyzed. The Chi-square test yielded statistically significant differences in CLOCK gene rs11932595 polymorphism in a recessive genotype model between women and men with a p-value of 0.03 and an odds ratio 2.66, and a corresponding 95% confidence interval of 1.07 to 6.66. Other analyzed polymorphisms of the circadian rhythm genes ARNTL, CRY2, and PER2 did not significantly differ between the sexes. According to the study’s current results, the CLOCK gene’s genetic variability might affect myocardial infarction concerning biological sex.

Genoset for CALCA and RAMP1 Single Nucleotide Polymorphisms Are Related to the Magnitude of Headache Symptoms After Concussion: A Preliminary Observation

Neurology ◽  
2021 ◽  
Vol 98 (1 Supplement 1) ◽  
pp. S22.3-S23
Author(s):  
Michael F. La Fountaine ◽  
Anthony Testa
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Saliva Sample ◽  
Area Under The Curve ◽  
Nucleotide Polymorphisms ◽  
Blurred Vision ◽  
Single Nucleotide ◽  
Commercial Laboratory ◽  
Pain Transmission ◽  
Significant Difference ◽  
A Prospective Study

ObjectiveDetermine whether single nucleotide polymorphisms (SNPs) of the calcitonin gene-related polypeptide (CGRP)-alpha (CALCA) and the receptor activity modifying protein-1 (RAMP1) are related to headache burden during the first week after concussion.BackgroundPost-traumatic headache is a commonly reported symptom after concussion. SNPs related to CGRP are involved in the pathogenesis of migraine headaches and contribute to pain transmission and neurogenic inflammation. It is unclear in concussed persons if the headache burden is associated with genetic variations related to CGRP.Design/MethodsA prospective study was performed in 34 concussed athletes (gender: 23 female, 11 male; age: 20 ± 1 years; height: 1.75 ± 0.12 meters; weight: 73 ± 14 kilograms). Participants completed the symptom evaluation checklist from the SCAT3 within 48 hours of injury (V1), and 4 (V2) and 7 (V3) days after injury. For each visit, the self-reported score (0–6) for headache, pressure in head, blurred vision, and sensitivity to light/noise were summed. The area under-the-curve (AUC) was computed for the early (EHB: V1 to V2) and late (LHB: V2 to V3) burden of headache-related symptoms. A saliva sample was obtained and a commercial laboratory identified the genotype for CALCA (rs3781719) and RAMP1 (rs10185142) using PMR-array. RAMP1 genotypes RAMP1 (TT, TC, CC) and CALCA (AA, AG, GG) genotypes were dichotomized (T+, T−, and A+, A− respectively) and concatenated (T + A+, T + A−, T−A+, T-A−) for analyses.ResultsA significant difference for EHB (p = 0.003, partial η2 = 0.417) was present across RAMP1+CALCA genotypes, but not for the LHB. The T + A+ subgroup had a significantly elevated EHB compared to the all-other subgroups (p < 0.05: T + A + [n = 16]: 31.6 ± 2.6; T + A − [n = 9]: 17.7 ± 3.6; T−A+ [n = 8]: 18.4 ± 3.7; T−A-[n = 1]: 0.0 ± 0.0). Gender served as a covariate and diagnosed concussion history had no impact.ConclusionsThe current analysis provides a proof-of-concept to suggest that the combined T + A+ genoset from RAMP1+CALCA are associated with a greater headache burden in the first 4 days after concussion injury.

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.

scholarly journals Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome

2014 ◽  
Vol 08 (01) ◽  
pp. 079-084 ◽  
Author(s):  
Nalini Aswath ◽  
Bhuminathan Swamikannu ◽  
Sankar Narayanan Ramakrishnan ◽  
Rajendran Shanmugam ◽  
Jayakar Thomas ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Direct Sequencing ◽  
Sequencing Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Heterozygous Condition ◽  
South Indian ◽  
The Subject ◽  
First Time ◽  
Intron 2

ABSTRACT Objective: In the present study, we have investigated the genetic status of CTSC gene in a HMS subject, who along with her parents belonged to non-Jewish South Indian Dravidian community. Materials and Methods: Genomic deoxyribonucleic acid isolated from the peripheral blood of the subject was amplified with CTSC exon specific primers and were analyzed by direct sequencing. Results: Sequencing analysis identified Ile453Val mutation within exon 7 of CTSC gene in heterozygous condition, and two single nucleotide polymorphisms (SNPs) within intron 2 and 5 in homozygous condition. Conclusion: The present study has identified for the first time the association of Ile453Val mutation within exon 7 and the two SNPs in a subject with HMS.

Single Nucleotide Polymorphisms of FCRL3 in Iranian Patients with Behcet’s Disease

2020 ◽  
Author(s):  
Farhad SHAHRAM ◽  
Javad KAZEMI ◽  
Mahmoud MAHMOUDI ◽  
Zohreh JADALI
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Behcet's Disease ◽  
Significant Difference ◽  
Iranian Patients

Background: Both genetic and environmental factors influence, susceptibility to autoimmune disorders including Behcet’s disease (BD). FCRL3 (Fc receptor like 3 genes), a novel immunoregulatory gene, has recently been reported as a new promising candidate gene for general autoimmunity. This study was conducted to explore the potential association of FCRL3 polymorphisms with BD. Methods: This study was conducted from 2010 to 2015 in Tehran University of Medical Sciences, Tehran, Iran. Four single-nucleotide polymorphisms of FCRL3 (rs7528684, rs11264799, rs945635, and rs3761959) were genotyped in 220 patients and 220 healthy controls. Typing of the polymorphisms in this case-control study was carried out using polymerase chain reaction-restriction fragment length polymorphism analysis. Results: Analysis of the alleles revealed a significantly lower frequency of the A allele at the -169 site (rs7528684) in BD patients compared with that in controls (P=0.000, 66.4% versus 82%, χ2= 30.23). Moreover, a significant lower frequency of AA genotype and higher frequency of GG genotype was recorded for rs7528684. There was also relationship between posterior uveitis as a clinical sign of disease and polymorphism of allele A at the -169 site (P=0.015). Conclusion: This study revealed a significant difference in both allele and genotype frequency at position -169 of FCRL3 gene between Iranian patients with BD and normal subjects. These data suggest FCRL3 gene polymorphisms might be the autoimmunity risk factor for BD.

scholarly journals Single-nucleotide polymorphisms in FABP4 gene associated with growth traits in Egyptian sheep

2020 ◽  
Vol 13 (6) ◽  
pp. 1126-1132
Author(s):  
Heba Ibrahim Shafey ◽  
Karima Fathy Mahrous ◽  
Amal Ahmed Mohamed Hassan ◽  
Hossam Eldin Rushdi ◽  
Mohamed Abd El-Aziz Mohamed Ibrahim
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Growth Traits ◽  
Average Daily Gain ◽  
Correlation Coefficients ◽  
Nucleotide Polymorphisms ◽  
Negative Effects ◽  
Single Nucleotide ◽  
Fatty Acid Binding ◽  
Sheep Breeds ◽  
Intron 1

Aim: The present study was performed to assess the association of single-nucleotide polymorphisms (SNPs) in the fatty acid-binding protein 4 (FABP4) gene with birth weight (BW), final weight (FW), and average daily gain (ADG) in three Egyptian sheep breeds. Materials and Methods: Genomic DNA was extracted from the blood samples of 50 male and female individuals representing Ossimi, Rahmani, and Barki sheep breeds. A 407 bp nucleotide (nt) segment from the first intron of FABP4 was amplified by polymerase chain reaction, sequenced, and analyzed in the different samples. Results: Sequence analysis of the determined segment (407 bp) revealed four SNPs (all transition types) at nt position 372 (CP011894.1:g.57605471) A>G, nt position 211 (CP011894.1:g.57605632) A>G, nt position 143 (CP011894.1:g.57605700) T>C, and nt position 111 (CP011894.1:g.57605732) T>C. The allelic and genotypic frequencies for the identified SNPs in the sheep breeds were calculated. At nt positions 372 and 211, two alleles were identified (A and G). Only two genotypes were present at nt position 372 (AA and AG), while three genotypes were present at nt position 211 (AA, AG, and GG). Two alleles (T and C) and three identified genotypes (TT, TC, and CC) were detected at nt positions 143 and 111. Analysis of the results revealed that AA genotype at nt position 372 is associated with higher estimates for BW, FW, and ADG when compared to all the other genotypes. Very high correlation coefficients were found between the genotypes 143-TT and 111-TT and also between 143-TC and 111-TC. The genotypes 372-AG, 211-GG, 211-AA, 143-TT, 143-CC, 111-TT, 111-TC, and 111-CC were associated with negative effects on BW, FW, and ADG. Conclusion: The detection of four SNPs in a partial sequence of the Egyptian ovine FABP4 gene intron 1 reflected that this gene harbors substantial diversity. In addition, a novel SNP at nt position 372 (CP011894.1:g.57605471) A>G was associated with higher estimates for BW, FW, and ADG.

Association of Polymorphism in Survivin gene and the risk of Liver Cancer resulting from Hepatitis C Virus among Egyptian patients

2021 ◽  
Vol 21 ◽  
Author(s):  
Amal A. Mohamed ◽  
Aymen S. Yassin ◽  
Basma S. Gomaa ◽  
Hossam Darwish ◽  
Rasha S. Mohamed ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Hepatitis C ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Hepatitis C Infection ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Survivin Gene ◽  
Increased Risk ◽  
Significant Difference

Background: This study aims to investigate the relation between Survivin gene polymorphisms, and the risk of Hepatocellular carcinoma (HCC) resulting from hepatitis C infection among Egyptian population. Methods: This prospective study was conducted on 164 patients, 57 patients were diagnosed with hepatitis C, where other 57 were diagnosed with HCC in addition to 50 healthy volunteers as controls. Genotyping for Survivin rs1042489 and rs8073069 single nucleotide polymorphisms was carried out by the allelic discrimination Real-Time Polymerase Chain Reaction Single Nucleotide Polymorphisms genotyping technology. Results: The results of Survivin rs1042489 polymorphism, revealed that the TC and CC genotypes were significantly different between hepatocellular carcinoma patients (OR=15.5, 95%CI: 3.299-72.825,P<0.001), and controls (OR=44, 95%CI: 8.025-241.254, P<0.001). Furthermore, CC genotype was significantly different between cirrhotic and hepatocellular carcinoma patients (OR=19.2, 95%CI: 3.097-119.049, P=0.002). Moreover the TC genotype shows a significant different between controls and cirrhotic patients (OR=5.5, 95%CI: 2.111-14.328, P<0.001). However when comparing TT genotypes, CC+TC genotypes results showed a significant association with increasing the risk of cirrhosis and hepatocellular carcinoma (OR=4.812, 95%CI: 1.893-12.233, P=0.001), (OR=21.607, 95%CI: 4.738-98.532, P<0.01), respectively. On the other hand, there was no significant difference among all studied groups for all genotypes, regarding Survivin rs8073069. Also CC+GC genotype showed no significant association with increased the risk of hepatocellular carcinoma (P=0.999) compared with the GG genotypes. Conclusion: The study indicates that functional Survivin rs1042489 polymorphism may contribute to the risk of hepatocellular carcinoma while Survivin rs8073069 polymorphism has no significant association with increased risk of hepatocellular carcinoma among the studied groups.

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