scholarly journals Verification allelic polymorphism's of genes MTHFR and MTR in patients with psoriasis

1970 ◽  
Vol 21 ◽  
pp. 345-349
Author(s):  
A. M. Fedota ◽  
L. V. Roshcheniuk ◽  
T. V. Tyzhnenko ◽  
A. V. Admakina ◽  
I. V. Horaichuk ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Severe Form ◽  
Mthfr Gene ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Aim Analysis ◽  
Single Nucleotide ◽  
Significant Difference

Aim. Analysis of single nucleotide polymorphisms C677T, A1298C and A2756G of MTHFR and MTR one-carbon metabolism genes in patients with various forms of psoriasis in Ukrainian population. Methods. A molecular genetic analysis of 77 patients with vulgaris and arthropathic psoriasis by PCR-RFLP was carried out. Results. In patients with vulgaris and arthropathic psoriasis analysis of the distribution of frequencies of genotypes showed a statistically significant difference between them for C677T polymorphic variants. In patients with psoriasis analysis of genotype distribution of series in the two genes as a whole, showed a statistically significant difference between the theoretically expected and actual frequencies for single nucleotide polymorphisms A1298T and A2756G of MTHFR and MTR genes. Conclusions. Among patients with arthropatic psoriasis, which is the most severe form of psoriasis, the homozygotes for the wild-type allele G of A2756G of MTR gene are more rarely, homozygotes of the TT of C667T of MTHFR gene are found more common than among psoriasis vulgaris patients, which may indicate the contribution of other genes to the development of arthropatic psoriasis. Keywords: psoriasis, arthropatic psoriasis, folate cycle, MTHFR gene, MTR gene.

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.

Single Nucleotide Polymorphisms in Carnosinase Genes (CNDP1 and CNDP2) are Associated With Power Athletic Status

2017 ◽  
Vol 27 (6) ◽  
pp. 533-542 ◽  
Author(s):  
João Paulo Limongi França Guilherme ◽  
Antonio Herbert Lancha
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Endurance Athletes ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Athletic Status ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Minor Alleles ◽  
Representative Cohort

Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and nonathletes. Eight SNPs were compared between a representative cohort of elite athletes from Brazil (n = 908) and a paired group of nonathletes (n = 967). The athletes were stratified into three groups: endurance (n = 328), power (n = 415), and combat (n = 165). The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes. Carriers of the minor allele had an increased odds ratio of being a power athlete. For the rs2346061, no significant difference was observed in genotype frequencies between power and combat sports athletes, but for rs2887 the power and combat groups showed an inverse genotype distribution. In conclusion, we found that minor alleles carriers for CNDP2 rs3764509 (G-allele), CNDP2-CNDP1 rs2346061 (C-allele), and CNDP1 rs2887 (A-allele) are more likely to be a power athlete. These polymorphisms may be novel genetic markers for power athletes. Furthermore, these results are suggestive of a distinct CNDP genotype for sporting development.

scholarly journals AB0004 TLR10 SINGLE NUCLEOTIDE POLYMORPHISMS ARE ASSOCIATED WITH HIDRADENITIS SUPPURATIVA IN A CAUCASIAN SPANISH POPULATION (NORTHERN SPAIN)

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1306.1-1306
Author(s):  
M. Calderón-Goercke ◽  
J. G. Ocejo-Vinyals ◽  
J. Irure-Ventura ◽  
M. Gutiérrez-Larrañaga ◽  
M. A. González-Gay ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Hidradenitis Suppurativa ◽  
Hair Follicles ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Northern Spain ◽  
Research Support ◽  
Single Nucleotide ◽  
Significant Difference

Background:Hidradenitis suppurativa (HS) is a chronic, relapsing inflammatory cutaneous disease affecting terminal hair follicles in apocrine-gland bearing skin. The pathogenesis of HS is still unknown, although increasing evidence suggests that the immune system plays an important role. In order to study the role of innate immunity we analyzed several Toll Like Receptors (TLRs) functional single nucleotide polymorphisms (SNPs). To date, only one previous study focused about the role of TLR4 SNPs in HS showing no association with this disease.Objectives:The main goal of this study was to analyze the role of several TLRs functional SNPs in HS patients and healthy controls, in a Caucasian population from Cantabria (northern Spain).Methods:Through a case-control study, we analyzed the allele and genotype distribution of the SNPs in 106 patients with HS and 278 age and sex matched healthy control subjects for the following SNPs (TLR1 rs5743611 and rs4833095, TLR2 rs5743704 and rs5743708, TLR6 rs5743810, and TLR10 rs11096955, rs11096957 and rs4129009, by Real-Time PCR using a TaqMan assay.Results:We did not find any significant difference in the allelic distribution of the different SNPs between HS patients and controls. Regarding genotypes, only TLR10 rs11096955 (dominant, codominant and overdominant), rs11096957 (dominant, codominant and overdominant) and rs4129009 (codominant and overdominant) showed significant differences between HS patients and controls. However, no association was found when we analyzed the different TLR10 haplotypes.Conclusion:To the best of our knowledge, this is the first study showing an association of TLR10 SNPs with HS.References:[1]González-López MA. J Am Acad Dermatol. 2016; Aug;75(2):329-35.[2]González-López MA. PLoS One. 2018 Jan 4;13(1)[3]Vilanova I. J Eur Acad Dermatol Venereol. 2018 May;32(5):820-824.[4]Durán-Vian C, J Eur Acad Dermatol Venereol. 2019 Nov;33(11):2131-2136.Disclosure of Interests:Monica Calderón-Goercke: None declared, J. Gonzalo Ocejo-Vinyals: None declared, Juan Irure-Ventura: None declared, María Gutiérrez-Larrañaga: None declared, Miguel A González-Gay Grant/research support from: Pfizer, Abbvie, MSD, Speakers bureau: Pfizer, Abbvie, MSD, Iosune Vilanova: None declared, Juan Cantos-Mansilla: None declared, Ricardo Blanco Grant/research support from: AbbVie, MSD, and Roche, Speakers bureau: AbbVie, Pfizer, Roche, Bristol-Myers, Janssen, and MSD, Marcos González-López: None declared

The Nonsynonymous Single-Nucleotide Polymorphisms in Codon 31 of p21 Gene and the Susceptibility to Cervical Cancer in Chinese Women

2009 ◽  
Vol 19 (6) ◽  
pp. 1011-1014 ◽  
Author(s):  
Qifang Tian ◽  
Weiguo Lu ◽  
Huaizeng Chen ◽  
Feng Ye ◽  
Xing Xie
Keyword(s):  
Cervical Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Allele Frequency ◽  
Chinese Women ◽  
Host Susceptibility ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference

Background:It was suggested that single-nucleotide polymorphisms in p21 codon 31 seem to be associated with a variety of human malignancies; very few studies have focused on the association between p21 codon 31 polymorphisms and cervical cancer. This study explored whether p21 codon 31 nonsynonymous single-nucleotide polymorphisms might be associated with an increased risk of cervical cancer development among Chinese women.Methods:Peripheral blood samples were obtained from patients with cervical cancer (n = 317) and healthy controls (n = 353) for detecting the biallelic polymorphisms at codon 31 of p21 gene by the mismatch amplification mutation assay-polymerase chain reaction. Cervix brush-off samples were obtained from patients with cervical squamous cell carcinoma (SCC) and controls for detection of high-risk human papillomavirus (HR-HPV).Results:The AGA (Arg) allele frequency in patients with cervical SCCs was significantly higher than that in controls. AGA/AGA and AGA/AGC genotypes were more frequently found in cervical SCCs than in controls. There was no significant difference of allele frequency or genotype distribution between cervical adenocarcinomas and controls, or between HR-HPV-positive and HR-HPV-negative groups.Conclusions:p21 Codon 31 with AGA (Arg) allele is a genetic risk factor of cervical SCC, and the increased risk is probably not caused by increasing host susceptibility to HR-HPV infection.

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.

scholarly journals Evaluation of PECAM-1 Gene Polymorphism in Patients with Periodontal Disease and Healthy Individuals

2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Mahdi Kdkhodazadeh ◽  
Mehrdad Hajilooi ◽  
Behzad Houshmand ◽  
Sara Khazaei ◽  
Leila Gholami ◽  
...  
Keyword(s):  
Chronic Periodontitis ◽  
Aggressive Periodontitis ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Single Nucleotide ◽  
Genotypic Distribution ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
Polymerase Chain

Objective. Our aim in this paper was to investigate the possible genetic association between three Ser563Asn, Leu125Val and Arg670Gly polymorphisms of the PECAM-1 gene and periodontitis. Methods. Genomic DNA was isolated from whole blood of 105 periodontal patient (52 with chronic periodontitis and 53 with aggressive periodontitis) and 101 healthy individuals. Samples were genotyped and analyzed for the three single-nucleotide polymorphisms (SNPs) of PECAM-1 using polymerase chain reaction with sequence-specific primers (PCR-SSPs). Results. A statistically significant difference was found between the genotypic distribution of the Ser563Asn polymorphism in patients with periodontitis compared to controls (P=0.02). But there were no statistically significant difference between the allele frequencies in the different groups (P=0.05). The other two polymorphisms did not show a statistically significant difference in their allele and genotype frequencies between the groups. There was no statistically significant difference found for any of the polymorphisms allele and genotype distribution in aggressive and chronic periodontitis either. Conclusions. No significant association was found between the polymorphism tested and the subgroups of periodontitis, further research is still necessary to determine whether this polymorphism can be used as a genetic marker of periodontitis.

Lack of association between delayed tooth emergence and single nucleotide polymorphisms in estrogen receptors

2021 ◽  
Vol 32 (6) ◽  
pp. 107-114
Author(s):  
Isabela Ribeiro Madalena ◽  
Caio Luiz Bitencourt Reis ◽  
Daniela Silva Barroso de Oliveira ◽  
Giovana Daniela Pecharki ◽  
Paula Cristina Trevilatto ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Oral Cavity ◽  
Estrogen Receptors ◽  
Permanent Tooth ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Age And Gender ◽  
Single Nucleotide ◽  
And Gender ◽  
Tooth Emergence

Abstract The purpose of the study was to investigate the association between single nucleotide polymorphisms (SNPs) in genes encoding estrogen receptors (ESR1 and ESR2, respectively) and delayed tooth emergence (DTE). This cross-sectional study was composed of biological unrelated children of both sexes, age ranging from 11 to 13 years old. DTE was defined when the successor primary tooth was still present in the oral cavity after its exfoliation time or the absence of the permanent tooth emergence into the oral cavity. Children were diagnosed with DTE when they had at least one delayed permanent tooth, according to age of exfoliation of each tooth proposed by The American Dental Association. Genomic DNA from saliva was used to evaluate the SNPs in ESR1 (rs9340799 and rs2234693) and ESR2 (rs1256049 and rs4986938) using Real-Time PCR. Chi-square or Fisher exact tests and Logistic Regression adjusted by age and gender were performed. SNP-SNP interaction was accessed by multifactor dimensionality reduction (MDR) analysis also adjusted by gender and age. The established alpha of this study was 5%. Among 537 included children, 296 (55%) were in the “DTE” group and the 241 (45%) were in the “Control” group. Age and gender were not statistically different among the groups (p>0.05). Genotype distribution of the SNPs rs9340799, rs2234693, rs1256049 and rs4986938 were not associated with DTE (p> 0.05). The models elected by MDR were not statistically significant either. Conclusions: The studied SNPs in ESR1 and ESR2 were not associated with permanent DTE.

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 Single Nucleotide Polymorphisms in Genes Associated with Isoniazid Resistance in Mycobacterium tuberculosis

2003 ◽  
Vol 47 (4) ◽  
pp. 1241-1250 ◽  
Author(s):  
Srinivas V. Ramaswamy ◽  
Robert Reich ◽  
Shu-Jun Dou ◽  
Linda Jasperse ◽  
Xi Pan ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Single Nucleotide Polymorphisms ◽  
Molecular Genetic ◽  
Mycolic Acid ◽  
Genetic Group ◽  
Clinical Isolates ◽  
Central Component ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

ABSTRACT Isoniazid (INH) is a central component of drug regimens used worldwide to treat tuberculosis. Previous studies have identified resistance-associated mutations in katG, inhA, kasA, ndh, and the oxyR-ahpC intergenic region. DNA microarray-based experiments have shown that INH induces several genes in Mycobacterium tuberculosis that encode proteins physiologically relevant to the drug's mode of action. To gain further insight into the molecular genetic basis of INH resistance, 20 genes implicated in INH resistance were sequenced for INH resistance-associated mutations. Thirty-eight INH-monoresistant clinical isolates and 86 INH-susceptible isolates of M. tuberculosis were obtained from the Texas Department of Health and the Houston Tuberculosis Initiative. Epidemiologic independence was established for all isolates by IS6110 restriction fragment length polymorphism analysis. Susceptible isolates were matched with resistant isolates by molecular genetic group and IS6110 profiles. Spoligotyping was done with isolates with five or fewer IS6110 copies. A major genetic group was established on the basis of the polymorphisms in katG codon 463 and gyrA codon 95. MICs were determined by the E-test. Semiquantitative catalase assays were performed with isolates with mutations in the katG gene. When the 20 genes were sequenced, it was found that 17 (44.7%) INH-resistant isolates had a single-locus, resistance-associated mutation in the katG, mabA, or Rv1772 gene. Seventeen (44.7%) INH-resistant isolates had resistance-associated mutations in two or more genes, and 76% of all INH-resistant isolates had a mutation in the katG gene. Mutations were also identified in the fadE24, Rv1592c, Rv1772, Rv0340, and iniBAC genes, recently shown by DNA-based microarray experiments to be upregulated in response to INH. In general, the MICs were higher for isolates with mutations in katG and the isolates had reduced catalase activities. The results show that a variety of single nucleotide polymorphisms in multiple genes are found exclusively in INH-resistant clinical isolates. These genes either are involved in mycolic acid biosynthesis or are overexpressed as a response to the buildup or cellular toxicity of INH.

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.

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