scholarly journals IGF1 Gene Polymorphism in Selected Species of the Canidae Family

2017 ◽  
Vol 67 (3) ◽  
pp. 426-431
Author(s):  
Andrzej Jakubczak ◽  
Magdalena Gryzinska ◽  
Beata Horecka ◽  
Grazyna Jezewska-Witkowska
Keyword(s):  
Gene Polymorphism ◽  
Missense Variant ◽  
Synonymous Mutation ◽  
Nucleotide Polymorphisms ◽  
Red Foxes ◽  
Free Living ◽  
New Mutation ◽  
Single Nucleotide ◽  
Variant Exon ◽  
Raccoon Dogs

AbstractThe gene IGF1 has been shown to have a significant influence on the size of individuals, including animals of the Canidae family. In this study we determined SNP mutations of the IGF1 gene in dogs, raccoon dogs and farmed and free-living red foxes from Poland and Canada. No SNP mutations were noted in dogs or raccoon dogs, but a total of 14 single nucleotide polymorphisms were identified in foxes, including 12 substitutions, as well as one new mutation missense variant (exon 6) in wild Polish foxes and one synonymous mutation variant in wild foxes from Canada. We identified specific SNP profiles characteristic only for farmed foxes and only for wild foxes, as well as specific SNP profiles or wild foxes from North America (Canada) and from Europe (Poland).

Polymorphisms of LHβ and GnRHR genes and their association with the number of embryos recovered in goats

2014 ◽  
Vol 54 (8) ◽  
pp. 987 ◽  
Author(s):  
M. Z. Fu ◽  
G. Li ◽  
Z. Q. Zhou
Keyword(s):  
Polymerase Chain Reaction ◽  
Single Nucleotide Polymorphisms ◽  
Gene Polymorphism ◽  
Corpus Luteum ◽  
Nucleotide Polymorphisms ◽  
Chain Reaction ◽  
Single Strand Conformational Polymorphism ◽  
Single Nucleotide ◽  
Exon 2 ◽  
Polymerase Chain

The objective of the present study was to explore a predictor of superovulation response on the basis of associations between the number of embryos recovered and gene polymorphism. Variation in the goat LHβ and GnRHR genes was investigated using polymerase chain reaction–single-strand conformational polymorphism and DNA sequencing. Two single nucleotide polymorphisms (SNPs) were identified in the 5′-UTR of LHβ gene (A59C, P1 locus) and in the Exon 2 of GnRHR gene (T177A, P6 locus). At the P1 locus in both breeds, the frequencies of one allele were 0.46 and 0.51, respectively. At the P6 locus, the minor allele frequency was 0.23. Associations of both SNPs with the number of embryos recovered and the corpus luteum number were evaluated in Boer and Shaanbei goat breeds. Association analysis showed that both SNPs had significant (P < 0.05) effects on the number of embryos recovered and corpus luteum number. These results indicate that LHβ and GnRHR genes are potential markers for the number of embryos recovered.

ABCB1andABCC3Gene Polymorphisms Are Associated with First-year Response to Methotrexate in Juvenile Idiopathic Arthritis

2012 ◽  
Vol 39 (10) ◽  
pp. 2032-2040 ◽  
Author(s):  
MAURITS C.F.J. de ROTTE ◽  
MAJA BULATOVIC ◽  
MARLOES W. HEIJSTEK ◽  
GERRIT JANSEN ◽  
SANDRA G. HEIL ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Gene Polymorphism ◽  
Treatment Strategies ◽  
First Year ◽  
Nucleotide Polymorphisms ◽  
Genetic Determinants ◽  
Single Nucleotide ◽  
American College Of Rheumatology ◽  
Individualize Treatment ◽  
Rheumatology Pediatric

Objective.Although methotrexate (MTX) is the most widely prescribed drug in juvenile idiopathic arthritis (JIA), 30% of patients fail to respond to it. To individualize treatment strategies, the genetic determinants of response to MTX should be identified.Methods.A cohort of 287 patients with JIA treated with MTX was studied longitudinally over the first year of treatment. MTX response was defined as the American College of Rheumatology pediatric 70 criteria (ACRped70). We genotyped 21 single-nucleotide polymorphisms in 13 genes related to MTX polyglutamylation and to cellular MTX uptake and efflux. Potential associations between ACRped70 and genotypes were analyzed in a multivariate model and corrected for these 3 covariates: disease duration prior to MTX treatment, physician’s global assessment of disease activity at baseline, and MTX dose at all study visits.Results.MTX response was more often achieved by patients variant for the adenosine triphosphate-binding cassette transporter B1 (ABCB1) gene polymorphism rs1045642 (OR 3.80, 95% CI 1.70−8.47, p = 0.001) and patients variant for theABCC3gene polymorphism rs4793665 (OR 3.10, 95% CI 1.49−6.41, p = 0.002) than by patients with other genotypes. Patients variant for the solute carrier 19A1 (SLC19A1) gene polymorphism rs1051266 were less likely to respond to MTX (OR 0.25, 95% CI 0.09−0.72, p = 0.011).Conclusion.ABCB1rs1045642,ABCC3rs4793665, andSLC19A1rs1051266 polymorphisms were associated with response to MTX in 287 patients with JIA studied longitudinally. Upon validation of our results in other JIA cohorts, these genetic determinants may help to individualize treatment strategies by predicting clinical response to MTX.

scholarly journals An Association between Single Nucleotide Polymorphisms of Lys751GlnERCC2Gene and Ovarian Cancer in Polish Women

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Magdalena M. Michalska ◽  
Dariusz Samulak ◽  
Hanna Romanowicz ◽  
Maciej Sobkowski ◽  
Beata Smolarz
Keyword(s):  
Ovarian Cancer ◽  
Gene Polymorphism ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphisms ◽  
Histological Grading ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Lys751gln Polymorphism

Aim.The aim of this study was to evaluate the role of the Lys751Gln (rs13181)ERCC2gene polymorphism in clinical parameters and the risk for development of ovarian cancer.Material and Methods.The study consisted of 430 patients with ovarian cancer (mean age: 53.2 ± 10.11) and 430 healthy subjects (mean age: 50.31 ± 18.21). Analysis of the gene polymorphisms was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.Results.The results obtained indicate that the genotype Gln/Gln is associated with an increased risk of ovarian cancer (OR 5.01; 95% CI 3.37–7.43;p<0.0001). Association of Lys751Gln polymorphism with histological grading showed increasedERCC2Gln/Gln (OR = 6.96; 95% CI 3.41–14.21;p<0.0001) genotype in grading 1 as well as Gln allele overrepresentation (OR = 4.98; 95% CI 3.37–7.40;p<0.0001) in G1 ovarian patients. Finally, with clinical FIGO staging under evaluation, an increase inERCC2Gln/Gln homozygote frequencies in staging I and Gln allele frequencies in SI were observed.Conclusion.On the basis of these results, we conclude thatERCC2gene polymorphism Lys751Gln may be associated with an increased risk of ovarian carcinoma.

scholarly journals Vitamin D Receptor (VDR) Gene Polymorphism in Patients Diagnosed with Colorectal Cancer

Nutrients ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 200
Author(s):  
Maria Latacz ◽  
Dominika Rozmus ◽  
Ewa Fiedorowicz ◽  
Jadwiga Snarska ◽  
Beata Jarmołowska ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Environmental Factors ◽  
Gene Polymorphism ◽  
Vitamin D Receptor ◽  
Nucleotide Polymorphisms ◽  
Vdr Gene ◽  
Single Nucleotide ◽  
Pcr Rflp ◽  
Vdr Polymorphisms

Colorectal cancer (CRC) is one of the most commonly occurring neoplasias in humans. The prevalence of CRC rates is still rising. Although the exact background of the disease still remains unknown, it is believed that CRC may not only be a result of environmental factors, but also genetic ones. One of the mechanisms underlying CRC might be the vitamin D pathway, as CRC is the most closely linked neoplasia to vitamin D deficiency. This study shows a possible association of the vitamin D receptor (VDR) polymorphisms FokI, BsmI, ApaI, and TaqI with CRC susceptibility. A total of 103 patients diagnosed with CRC (61 men and 42 women, aged 57–82 years) and 109 healthy people (50 men and 59 women, aged 47–68 years) were genotyped using PCR-RFLP for FokI, BsmI, ApaI, and TaqI. None of the single nucleotide polymorphisms (SNPs) individually increased or decreased the risk of CRC. The evaluation of haplotypes revealed two that might enhance the likelihood of CRC development: taB (OR = 30.22; 95% CI 2.81–325.31; p = 0.01) and tAb (OR = 3.84; 95% CI 1.29–11.38; p = 0.01). In conclusion, genotyping is an easy and robust procedure that needs to be performed only once in a lifetime. A creation of a relevant SNP’s panel might contribute to the identification of the groups that are at the greatest risk of CRC.

scholarly journals Howler monkeys are the reservoir of malaria parasites causing zoonotic infections in the Atlantic forest of Rio de Janeiro

2019 ◽  
Author(s):  
Filipe Vieira Santos de Abreu ◽  
Edmilson dos Santos ◽  
Aline Rosa Lavigne Mello ◽  
Larissa Rodrigues Gomes ◽  
Denise Anete Madureira de Alvarenga ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Atlantic Forest ◽  
Rio De Janeiro ◽  
Geographical Origin ◽  
Nucleotide Polymorphisms ◽  
Howler Monkeys ◽  
Free Living ◽  
Single Nucleotide ◽  
Human Malaria ◽  
First Time

AbstractBackgroundAlthough malaria transmission was eradicated from southeast Brazil, a significant increase in the number of Plasmodium vivax-like autochthonous human cases has been reported in remote areas of the Atlantic Forest in the last decades in Rio de Janeiro (RJ) state, including an outbreak in 2015-2016. The singular clinical and epidemiological aspects of several human cases combined with molecular and genetic data revealed that they were due to the non-human primate (NHP) parasite P. simium. The full understanding of the epidemiology of the autochthonous malaria in southeastern Brazil depends, however, upon the knowledge on the circulation of NHP Plasmodium in the foci and the determination of its reservoirs.MethodologyA large sampling effort was carried out in the Atlantic forest of RJ and its bordering states (Minas Gerais, São Paulo, Espírito Santo) for capture and examination of free-living NHPs. Blood and/or viscera were analyzed for Plasmodia infections through molecular and microscopic techniques.Principal findingsIn total, 146 NHPs of six species, from 30 counties in four states were tested. Howler monkeys (A. guariba clamitans) were the only NHP species found infected. In RJ, 26% of howlers were positive, among them 17% were found to be infected with P. simium. Importantly, specific single nucleotide polymorphisms were detected in all P. simium infected howlers regardless geographical origin of malaria foci. Interestingly, 71% of P. simium infected NHP were from the coastal slope of a mountain chain (Serra do Mar), where most human cases have been occurring. P. brasilianum/malariae was detected for the first time in 14% free-living howlers in RJ as well as in 25% of those from the Espírito Santo state. Moreover, malarial pigment was detected in spleen fragments of 50% of a subsample composed of howler monkeys found dead in both RJ and ES. All NHPs were negative for P. falciparum.Conclusions/SignificanceOur data indicate the howler monkeys as the main reservoir of the Atlantic forest human malaria in RJ and other sites in Southeast Brazil and reinforce its zoonotic nature.Author summaryThe present work consists of an unprecedented capture effort and large-scale field survey of plasmodial species in Non-human primates (NHPs) in RJ, a state recording a three-decade history of autochthonous human cases of benign tertian malaria pending epidemiological clarification of their origin. For the first time, we describe infection rates by Plasmodium sp.in free-living NHP, match the spatial distribution of P. simium in NHP with that of local human cases of benign tertian malaria due to this parasite, disclose howler monkeys as the only confirmed reservoir of this zoonotic malaria in the state and showed that specific single nucleotide polymorphisms were present in all P. simium infected howlers, regardless of the geographical origin of malaria foci. It is also the first time that P. brasilianum/malariae is recorded in free-living NHPs from Rio de Janeiro and the widespread distribution of this quartan-malaria parasite of zoonotic potential in the state is illustrated. Together, these findings increase the understanding about the simian malaria parasites in Atlantic Forests, as well as on the zoonotic character of autochthonous human malaria in Rio de Janeiro, providing subsidies for shaping surveillance and control.

scholarly journals Analysis of Uncoupling Protein 1 and β3-adrenergic Receptor Single Nucleotide Polymorphisms in Saudi Population with Type 2 Diabetes Mellitus

2020 ◽  
Vol 8 (A) ◽  
pp. 699-705
Author(s):  
Fathy М. Elfasakhany ◽  
Abdulah M. Karawagh ◽  
Shahid S. Siddiqui ◽  
Magdi A. Eldamarawi
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Gene Polymorphism ◽  
Adrenergic Receptor ◽  
Uncoupling Protein ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
The Relationship

BACKGROUND: Uncoupling proteins (UCP) and β3-adrenergic receptor (ADRB3) gene polymorphism have been implicated in the susceptibility to type 2 diabetes mellitus (T2DM) but the results are inconsistent and inconclusive. AIM: The aim was to investigate the relationship between -3826A/G (rs1800592) of UCP 1 and ADRB3 Trp64Arg (C/T) (rs4994) gene polymorphism and the incidence of T2DM among Saudis. METHODS: Genotyping of both UCP1 and ADRB3 genes was carried out in 110 healthy controls and 108 unrelated Saudis with T2DM using polymerase chain reaction-based restriction fragment length polymorphism. RESULTS: The genotype and allele frequencies of the UCP1 gene did not differ significantly between diabetic subjects and controls (p > 0.05). However, the CT genotype and the T allele of ADRB3 were higher in diabetic subjects compared with the controls while the CC genotype and C allele were higher in the controls relative to the diabetic subjects (Odds ratios [OR]: 7.85, 95% confidence interval [CI]: 4.23–14.59, p < 0.001 and OR: 7.434 95% CI: 4.026–13.39, p < 0.001, respectively). CONCLUSION: The UCP1 -3826A/G polymorphism may not be associated with the susceptibility to T2DM among Saudis while T allele of ADRB3 may be related to the risk of T2DM, whereas the CC genotype and C allele may confer protection to T2DM.

scholarly journals Association between Kidney Injury Molecule-1 Gene Polymorphism and Acute Kidney Injury in Lebanese population

2019 ◽  
Vol 3 (3) ◽  
pp. 9
Author(s):  
Hajar Karaali ◽  
Jamilah Borjac
Keyword(s):  
Acute Kidney Injury ◽  
Single Nucleotide Polymorphisms ◽  
Gene Polymorphism ◽  
Kidney Injury ◽  
Injury Incidence ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Lebanese Population ◽  
Exon 4 ◽  
Kidney Injury Molecule 1

Background: Acute kidney injury is a common condition associated with longer hospital stay and increased mortality. Kidney injury molecule-1 is one of the early and sensitive biomarkers for acute kidney injury diagnosis. Therefore we examined the relationship between kidney injury molecule-1 gene polymorphism and acute kidney injury in Lebanese hospitalized patients. Methods: Genomic DNA was isolated from blood samples collected from 50 patients and 40 controls. Kidney injury molecule-1 exon 4 was amplified by polymerase chain reaction. The amplified products were sequenced. Serum creatinine and urea levels were measured. Results: Three out of the five known single nucleotide polymorphisms showed significant association with susceptibility to the disease (P ≤ 0.05). Data analysis implied that carriers of the risk allele of these 3 single nucleotide polymorphisms were more predisposed to acute kidney injury. No association was found between the studied nucleotides variations and creatinine/urea levels. Haplotype analysis showed high association of the block CTA with acute kidney injury incidence and high creatinine and urea levels. Conclusions: Our results suggest that polymorphisms in exon 4 of kidney injury molecule-1 in the Lebanese population may be associated with acute kidney injury.

scholarly journals Genetic Differentiation of Common Fox Vulpes Vulpes (Linnaeus, 1758) on the Basis of the Insulin-Like Growth Factor 1 (Igf1), Myosin-Xv (Myo15a) and Paired Box Homeotic 3 (Pax3) Genes Fragments Polymorphism

2014 ◽  
Vol 14 (4) ◽  
pp. 807-819 ◽  
Author(s):  
Andrzej Jakubczak ◽  
Magdalena Gryzińska ◽  
Beata Horecka ◽  
Kornel Kasperek ◽  
Katarzyna Dziadosz ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Growth Factor ◽  
Nucleotide Variation ◽  
Insulin Like Growth Factor ◽  
Nucleotide Polymorphism ◽  
Red Foxes ◽  
Free Living ◽  
Single Nucleotide ◽  
Time Specific

Abstract Single-nucleotide polymorphism (SNP) was analysed for selected fragments of three genes - insulin-like growth factor 1 (IGF1), myosin-XV (MYO15A) and paired box homeotic gene 3 (PAX3) - in farm and wild red foxes from two continents. The study was undertaken in order to verify whether the SNP characteristics of these genes enable farm-bred foxes to be distinguished from free-living foxes. The greatest number of changes were detected in the IGF1 gene. For each of the genes investigated specific SNP profiles characteristic only for farm foxes and only for wild foxes were noted. At the same time, specific SNP profiles were noted for wild foxes from North America and from Europe. The frequency of SNP (bases per SNP) in the gene fragments examined was 22 bp for IGF1, 34 bp for PAX3 and 56 bp for MYO15A. Single-nucleotide polymorphism is a very good molecular marker enabling characterization of nucleotide variation in the genes investigated between wild and farm individuals

scholarly journals Previously Identified Genetic Variants in ADGRL3 Are not Associated with Risk for Equine Degenerative Myeloencephalopathy across Breeds

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 681 ◽  
Author(s):  
Sabin A. Marquardt ◽  
Callie V. Wilcox ◽  
Erin N. Burns ◽  
Janel A. Peterson ◽  
Carrie J. Finno
Keyword(s):  
Missense Mutation ◽  
Missense Variant ◽  
Genomic Region ◽  
Neuroaxonal Dystrophy ◽  
Nucleotide Polymorphisms ◽  
Nonsynonymous Variant ◽  
Single Nucleotide ◽  
Wide Range ◽  
Young Horses ◽  
G Protein Coupled

Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is a neurologic disease that has been reported in young horses from a wide range of breeds. The disease is inherited and associated with vitamin E deficiency during the first two years of life, resulting in bilateral symmetric ataxia. A missense mutation (chr3:71,917,591 C > T) within adhesion G protein-coupled receptor L3 (ADGRL3) was recently associated with risk for EDM in the Caspian breed. In order to confirm these findings, genotyping of this missense mutation, along with the three other associated single nucleotide polymorphisms (SNPs) in the genomic region, was carried out on 31 postmortem-confirmed eNAD/EDM cases and 43 clinically phenotyped controls from various breeds. No significant association was found between eNAD/EDM confirmed cases and genotype at any of the four identified SNPs (P > 0.05), including the nonsynonymous variant (EquCab2.0 chr3:71,917,591; allelic P = 0.85). These findings suggest that the four SNPs, including the missense variant in the ADGRL3 region, are not associated with risk for eNAD/EDM across multiple breeds of horses.

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