scholarly journals Caveolin-1 rs4730751 single-nucleotide polymorphism may not influence kidney transplant allograft survival

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Mehdi Maanaoui ◽  
Rémi Lenain ◽  
Aghilès Hamroun ◽  
Cynthia Van der Hauwaert ◽  
Benjamin Lopez ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Graft Survival ◽  
Mixed Model ◽  
Linear Mixed Model ◽  
Graft Loss ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Caveolin 1 ◽  
Significant Difference

Abstract Caveolin-1 is a protein (encoded by the CAV1 gene) supposedly harboring a protective effect against fibrosis. CAV1 rs4730751 single nucleotide polymorphism (SNP) AA genotype was initially associated with lower graft survival compared to non-AA. However, subsequent studies could not find the same effect. CAV1 rs4730751 SNP was investigated on 918 kidney donors. Multivariate Cox-model analyses were performed to evaluate risk factors for graft loss. Longitudinal changes on long-term estimated glomerular filtration rate (eGFRs) were evaluated with a linear mixed model. Histopathological findings from protocolled biopsies after 3 months post transplantation were also analyzed. Donor CAV1 rs4730751 genotyping proportions were 7.1% for AA, 41.6% for AC and 51.3% for CC. The AA genotype, compared to non-AA, was not associated with lower graft survival censored or not for death (multivariate analysis: HR = 1.23 [0.74–2.05] and HR = 1.27 [0.84–1.92]). Linear mixed model on long-term eGFRs revealed also no significant difference according to the genotype, yet we observed a trend. AA genotype was also not associated with a higher degree of fibrosis index on protocolled kidney biopsies at 3 months. To conclude, donor CAV1 rs4730751 SNP may impact on kidney transplantation outcomes, but this study could not confirm this hypothesis.

Single-nucleotide Polymorphism in the CD14 Promoter and Periodontal Disease Expression in a Japanese Population

2003 ◽  
Vol 82 (8) ◽  
pp. 612-616 ◽  
Author(s):  
K. Yamazaki ◽  
K. Ueki-Maruyama ◽  
T. Oda ◽  
K. Tabeta ◽  
Y. Shimada ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Periodontal Disease ◽  
Japanese Population ◽  
Young Patients ◽  
Genotype Distribution ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Control Subjects ◽  
Significant Difference ◽  
And Gender

It has been reported that there is a relationship between a single-nucleotide polymorphism (SNP) in the promoter region of the CD14 gene at position -159 (C→T) and infectious diseases. The aim of the present study was to test the hypthesis that expression of this SNP correlates with periodontal disease in a Japanese population. The CD14 genotype was determined in 163 subjects with periodontitis and in 104 age- and gender-matched control subjects without periodontitis. The genotype distribution and allele frequency within the periodontitis patients were not significantly different from those of control subjects. There was, however, a significant difference in the genotype distribution between young patients (< 35 yrs) and older patients (≥ 35 yrs). These findings suggest that CD14 -159C/T polymorphism is not related to the development of periodontitis in a Japanese population, but that, within the periodontitis subjects, expression of the SNP may be related to early disease activity.

BTNL2 gene polymorphism and sarcoid uveitis

2019 ◽  
pp. bjophthalmol-2018-312949 ◽  
Author(s):  
Mayeul Chaperon ◽  
Yves Pacheco ◽  
Delphine Maucort-Boulch ◽  
Jean Iwaz ◽  
Laurent Perard ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Gene Polymorphism ◽  
Nucleotide Polymorphism ◽  
Predisposing Factor ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Subgroup Ii ◽  
Significant Difference ◽  
Caucasian Women ◽  
Patient Subgroups

BackgroundUveitis is a frequent and early feature of sarcoidosis. As BTNL2 (butyrophilin-like 2) gene polymorphism was found linked with the susceptibility to sarcoidosis, we investigated whether a specific genotype of BTNL2 gene G16071A (or rs2076530) single-nucleotide polymorphism (SNP) would be associated with the risk of sarcoid uveitis in all patient subgroups.MethodsThe study compared the genotype frequencies of SNP G16071A of 135 patients with sarcoid uveitis (Sa+Uv+) with those of 196 patients with sarcoidosis without uveitis (Sa+Uv−), 81 patients with uveitis without sarcoidosis (Sa−Uv+), and 271 controls with no sarcoidosis nor uveitis (Sa−Uv−). Three hypothetical subgroups of patients with sarcoid uveitis (Sa+Uv+ cases) were considered: (1) subgroup I: patients aged <45 years of both sexes and all ethnic origins; (2) subgroup II: Caucasian women aged >45 years; and (3) subgroup III: all other patients.ResultsA statistically significant difference in genotype frequencies was found between the groups Sa+Uv− and Sa−Uv− (p=3.2×10−6) and between the groups Sa+Uv+ and Sa+Uv− (p=7.1×10−3). There was no difference between the three subgroups of Sa+Uv+ patients. There was a statistically significant difference in genotype frequencies between Sa+Uv− and Sa+Uv+ subgroup II (p=0.005) but no difference between Sa+Uv− and Sa+Uv+ subgroup I.ConclusionNo association was found between G16071A and the susceptibility to sarcoid uveitis. BTNL2 gene G16071A SNP seems to be a predisposing factor for sarcoidosis except in Caucasian postmenopausal women with sarcoid uveitis in whom the GG genotype prevails. These and future results will help in understanding differences between particular subgroups of patients with sarcoid uveitis.

scholarly journals Bovine cardiac troponin I gene (<i>TNNI3</i>) as a candidate gene for bovine dilated cardiomyopathy

2009 ◽  
Vol 52 (2) ◽  
pp. 113-123
Author(s):  
M. Owczarek-Lipska ◽  
G. Dolf ◽  
K. E. Guziewicz ◽  
T. Leeb ◽  
C. Schelling ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Dilated Cardiomyopathy ◽  
Candidate Gene ◽  
Expression Analysis ◽  
Cardiac Troponin ◽  
Troponin I ◽  
Troponin T ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Significant Difference

Abstract. The cardiac troponin complex, which is an important component of the contractile apparatus, is composed of the three subunits troponin I (TnI), troponin C (TnC) and troponin T (TnT). Troponin I is the inhibitory subunit and consists of three isoforms encoded by TNNI1, TNNI2 and TNNI3 genes, respectively. Due to the different types of cardiomyopathies caused by mutations in the TNNI3 gene and its fluorescence in situ hybridization (FISH) mapping on bovine chromosome 18q26, which was shown to be linked to the recessively inherited bovine dilated cardiomyopathy (BDCMP), bovine TNNI3 was considered as candidate gene for BDCMP. Real-time polymerase chain reaction (PCR) TNNI3 expression analysis resulted in a significant difference between BDCMP affected and unaffected animals when normalized to ACTB gene expression, but there was no significant difference in expression when normalized to GAPDH. Northen blotting experiment was in agreement with the expression analysis and did not reveal a significant difference between the group of BDCMP affected and unaffected animals. Sequencing of the bovine TNNI3 gene revealed a single nucleotide polymorphism in intron 6 (c.378+315G>A), but this single nucleotide polymorphism (SNP)was present regardless of the BDCMP status. In summary our data provide evidence to exclude the bovine TNNI3 gene as a candidate for BDCMP.

Common Polymorphism G(-248)A in the Promoter Region of the bax Gene Results in Significantly Shorter Survival in Patients With Chronic Lymphocytic Leukemia Once Treatment Is Initiated

2005 ◽  
Vol 23 (7) ◽  
pp. 1514-1521 ◽  
Author(s):  
Jane Starczynski ◽  
Chris Pepper ◽  
Guy Pratt ◽  
Laura Hooper ◽  
Alun Thomas ◽  
...  
Keyword(s):  
Overall Survival ◽  
Single Nucleotide Polymorphism ◽  
Chronic Lymphocytic Leukemia ◽  
Promoter Region ◽  
Lymphocytic Leukemia ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Bax Protein ◽  
Significant Difference ◽  
Bax Gene

Purpose Chronic lymphocytic leukemia (CLL) is characterized by the development of drug resistance. The underlying biologic and genetic reasons for this resistance are complex, but the bcl-2 gene family seems to play a critical role. This retrospective study assessed the clinical impact of a common single nucleotide polymorphism of the pro-apoptotic bax gene in patients with chronic lymphocytic leukemia. Patients and Methods The frequency of the novel polymorphism, G(−248)A, in the promoter region of the bax gene and bax protein expression was assessed in 203 CLL patients. The results were correlated with clinical outcome. Results The polymorphism was found in 23% of the CLL cohort and 15% of normal controls with no significant difference in allele frequency between the two groups (P = .15). It was associated with lower Bax protein expression and a shorter overall survival, especially in the treated patient group (P = .03). Furthermore, the adverse impact of the polymorphism was accentuated when comparing survival from the date of first treatment rather than diagnosis (P = .012). No significant difference in age at diagnosis, stage of disease at presentation, lymphocyte doubling time, time to first treatment, or progression-free survival were observed. Conclusion The presence of this single nucleotide polymorphism in CLL critically influences the response to treatment and overall survival. Given the relatively high prevalence of this polymorphism in the normal population, further prospective studies in CLL and other human malignancies are indicated.

scholarly journals The role of single-nucleotide polymorphism rs10824026 of the SYNPO2L gene in the development of atrial fibrillation in a study in the East-Siberian population

2019 ◽  
Vol 10 (4) ◽  
pp. 34-38
Author(s):  
Kseniia Yu. Shishkova ◽  
Svetlana Yu. Nikulina ◽  
Vladimir A. Shulman ◽  
Anna A. Chernova ◽  
Vladimir N. Maksimov ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Single Nucleotide Polymorphism ◽  
National Standard ◽  
World Health ◽  
Control Group ◽  
Genome Wide Association Studies ◽  
Siberian Population ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Significant Difference

Background. Atrial fibrillation (AF) is the most common type of heart rhythm disturbance, leading to the development of lifethreatening conditions, such as cardio embolism, heart failure, and even sudden cardiac death. In recent years, the genetic aspects of AF have been actively discussed. The largest number of genetic predictors of AF was identified after a full genome-wide association studies (GWAS). Given that so far no studies of the association of rs10824026 polymorphism of chromosome 10q22 with the development of AF have been conducted in the Russian population, we conducted this clinical study. Aim. Checking the associations of the development of AF with the single-nucleotide polymorphism rs10824026 of the SYNPO2L gene in the East-Siberian population. Materials and methods. The study design was formed in accordance with the National Standard of the Russian Federation Good Clinical Practice, GOST P 52379-2005. The study uses design - “case-control”. The main group of patients - patients with known cardiac arrhythmias by the type of AF (n=106, average age 57.0±9 years, men 49.4%, women 50.6%), the group was formed using the criteria of the World Health Organization and the European Society of cardiologists. The control group (n=105, average age 57.0±9 years, men - 50.0%, women - 50.0%) was selected by age and gender from the DNA bank of international studies MONICA (Multinational MONItoring of trends and determinants in cardiovascular disease) under a joint agreement with the Research Institute of Therapy and preventive medicine - Novosibirsk. DNA was isolated by phenol-chloroform extraction. Among other things, among the research methods, routine laboratory methods were used; instrumental data; and invasive tactics such as CAG. Results. As a result of clinical genetic testing, it was found that the frequency of G/G polymorphism of the SYNPO2L gene in patients with AF shows a statistically significant difference.

scholarly journals Single-Nucleotide Polymorphism of rs11061971 (+219 A>T) in Adiponectin Receptor 2 (AdipoR2) Gene and Its Association with Risk of Type 2 Diabetes Among an Iranian Population ​

2021 ◽  
Author(s):  
Masoud Tahani ◽  
Mohamad Taghi Goodarzi ◽  
Ali Asghar Ahmadi ◽  
Mohammad Hossein Hasani ◽  
Alireza Farrahi ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Single Nucleotide Polymorphism ◽  
Adiponectin Receptor ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Adiponectin Receptor 2 ◽  
Genetic Modifications ◽  
Significant Difference

Abstract Genetic modifications in the adiponectin receptor 2 (AdipoR2) gene can affect phenotypes associated with insulin resistance and diabetes. The purpose of this study was to evaluate the possible role of genetic modifications in the AdipoR2 gene, to determine the frequency of genotypes and polymorphism alleles of this gene at rs11061971 (+ 219 A > T), and to investigate its correlation with type 2 diabetes (T2D) and its related metabolic profile. In this case-control study, the single-nucleotide polymorphism (SNP) of interest in 116 T2D patients and 102 controls was evaluated using RFLP PCR and FOK 1 enzyme. Fasting blood sugar, cholesterol, triglyceride, insulin, HDL-C, LDL-C and HbA1c were also measured and their correlation with the studied genetic modifications was assessed. The collected data were analyzed using Chi-square test and Hardy-Weinberg equation. There was a significant association in AT and TT genotypes in rs11061971 (+ 219 A > T) with T2D. However, no significant difference was observed in the frequency of alleles between the case and control groups. In addition, in LDL-C and total cholesterol in the control group, there was a significant difference between AA and TT genotypes as well as with AA and AT genotypes. However, no correlation was found between the other serum studied parameters and the genotype of individuals in the rs1106197171 polymorphism. The role of rs11061971 (+ 219 A > T) polymorphism in T2D incidence seems to be strong. This study showed that AT and TT genotypes versus AA genotype increase the risk of diabetes.

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