Functional polymorphism of the myeloperoxidase gene (G-463A) in depressive patients

2010 ◽  
Vol 22 (5) ◽  
pp. 218-222 ◽  
Author(s):  
Piotr Gałecki ◽  
Antoni Florkowski ◽  
Kinga Bobińska ◽  
Janusz Śmigielski ◽  
Małgorzata Bieńkiewicz ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Depressive Disorders ◽  
Genotype Distribution ◽  
Functional Polymorphism ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Inflammatory Processes ◽  
Healthy Control ◽  
Depressive Patients

Gałecki P, Florkowski A, Bobińska K, Śmigielski J, Bieńkiewicz M, Szemraj J. Functional polymorphism of the myeloperoxidase gene (G-463A) in depressive patients.Objective:Myeloperoxidase (MPO) is an enzyme involved in the production of hypochloric acid as well as other reactive oxygen species. This enzyme plays a significant role in inflammatory processes. In view of the observed associations between depression and such inflammatory processes, as well as of the reports that confirm the presence of oxidative stress in depression, this study was designed to assess the correlation, if any, between the single nucleotide polymorphism G-463A of the MPO gene and the risk of recurrent depressive disorders (DD).Methods:The study was carried out in a group of 149 patients with recurrent DD and 149 healthy control subjects. Genotyping was performed by PCR/restriction fragment length polymorphism.Results:A comparison between healthy controls and depressive patients showed a statistically significant difference in genotype distribution and allele frequency in the studied groups. Genotype distribution and allele frequency did not correlate with clinical variables of the patients.Conclusion:The obtained results of the study allow us to draw a cautious conclusion about the role of the analysed G-463A MPO polymorphism in recurrent DD development, which, however, requires eventual confirmation in further studies.

ACE Insertion/Deletion, But Not −240A>T Polymorphism, Modulates the Severity in Heart Failure

2008 ◽  
Vol 56 (8) ◽  
pp. 1004-1010 ◽  
Author(s):  
Cinzia Fatini ◽  
Elena Sticchi ◽  
Rossella Marcucci ◽  
Abdihakim Abdullahi Said ◽  
Stefano Del Pace ◽  
...  
Keyword(s):  
Heart Failure ◽  
Allele Frequency ◽  
Nyha Class ◽  
Severe Heart Failure ◽  
Genotype Distribution ◽  
Multinomial Regression ◽  
Predisposing Factor ◽  
Significant Difference ◽  
Patients With Heart Failure

ObjectiveACE gene is reported to be a candidate gene in heart failure. The insertion/deletion (I/D) polymorphism has been observed to be a predictor of mortality in this disease, but no data are available concerning the role of ACE −240A>T polymorphism. In this study, we investigated the role of ACE I/D and −240A>T polymorphisms in influencing both severity and clinical outcomes in patients with heart failure, according to New York Heart Association (NYHA) class.PatientsWe studied 323 patients with heart failure (258 men/65 women; age, 70.8 ± 11.5 years) followed-up for 11.9 ± 6.6 months.ResultsThe ACE D and −240T allele frequency significantly increased according to the NYHA functional class (P = 0.0002 and P < 0.0001, respectively).No significant difference in ACE polymorphism genotype distribution and allele frequency according to N-terminal pro-brain natriuretic peptide tertiles was observed. At multinomial regression analysis, ACE D but not −240T allele has been evidenced to be a significant and independent predictor of severity for both NYHA III and IV classes (P = 0.01 and P = 0.004, respectively). The ACE D allele prevalence was higher, even if not significantly in both death and rehospitalization groups in comparison with survivors and nonrehospitalized (P = 0.6 and P = 0.9, respectively). No difference in −240T allele frequency has been observed for the ACE −240A>T polymorphism, in relation to both death and rehospitalization (P = 0.1 and P = 0.6, respectively).ConclusionsThis study suggests that ACE I/D polymorphism might represent a predisposing factor to severe heart failure, independently of well-known prognostic markers.

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.

Analysing CYP2D6*4 Allele frequency in Patients with Schizophrenia

2017 ◽  
Vol 41 (S1) ◽  
pp. S101-S102
Author(s):  
V. Djordjevic ◽  
T. Jevtovic Stoimenov
Keyword(s):  
Allele Frequency ◽  
Plasma Concentrations ◽  
Clinical Severity ◽  
Genotype Distribution ◽  
Healthy Individuals ◽  
Wild Type ◽  
Specific Pcr ◽  
Significant Difference ◽  
Schizophrenic Patients ◽  
The Right

IntroductionSchizophrenia is treated with antipsychotics and other psychotropic medications, many of which are substrates for the highly polymorphic CYP2D6 enzyme. The most frequent variant allele is CYP2D6*4- leading cause of poor metabolism (PM) phenotype. PM causes the reduction of therapeutic response, increase the risk of adverse drug reactions and increase the plasma concentration of both drug and its metabolites above the levels of toxicity.The AimAnalysing CYP2D6*4 allele frequency among schizophrenic patients for further individualisation and rationalisation of therapy.Patients and methodsResearch was conducted on 38 schizophrenic patients and 110 healthy individuals. CYP2D6*4 allele was detected with allele specific PCR.ResultsBoth wild type allele carriers are 55% of the schizophrenic patients, 45% are wild type/*4heterozygous, and *4/*4 homozygous are not identified. There is a statistically significant difference in the genotype distribution (P < 0.05) between schizophrenic patients and healthy individuals. Significantly higher *4 allele frequency (37%) comparing to healthy individuals (P < 0.0001) indicates the necessary caution in administration of CYP2D6 substrates. A lower frequency of PMs in schizophrenic patients than in healthy individuals could be explained with CYP2D6 neuroactive substrate metabolism. Forty-five percent of the schizophrenic patients are intermediate metabolisers carrying the higher risk of adverse response to CYP2D6 substrates comparing to wild type homozygous. As none of the analyzed patients was PM, exceeded plasma concentrations of medications above toxic levels are not expected when administrating the right dosage.ConclusionAltered CYP2D6 metabolism may contribute to the vulnerability, clinical severity and treatment outcome of schizophrenia.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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.

scholarly journals An Interdependence between Estrogen Receptor 1 Gene Polymorphisms and Susceptibility to Breast Cancer

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Maryam Saneipour ◽  
Abdolkarim Sheikhi ◽  
Abbas Moridnia
Keyword(s):  
Breast Cancer ◽  
Estrogen Receptor ◽  
Allele Frequency ◽  
Genetic Alterations ◽  
Recessive Model ◽  
Control Group ◽  
Genotype Distribution ◽  
Increased Risk ◽  
Significant Difference ◽  
Estrogen Receptor 1

Background: Breast cancer (BC) is the most common malignant tumor in women around the world. Genetic factors do play a vital role in the development and progression of BC. Genetic alterations in the ESR1 (estrogen receptor 1) gene can lead to estrogen dysfunction and increased risk for BC. Nevertheless, due to genetic diversity, the information from different studies is contradictory and controversial. Objectives: This study aimed to investigate the potential relationship between the rs1801132 and rs2234693 single nucleotide polymorphism (SNPs) of the ESR1 gene with susceptibility to BC in the Iranian population. Methods: The genotyping of the rs2234693 and rs1801132 SNPs was assessed in 63 BC patients referred to Imam Hasan Mojtaba Center, which is a charity-based foundation for cancer care in Dezful, Iran, from March 2018 to November 2019. Also, 65 healthy women were selected as a control group. The genotyping of the SNPs was performed using the high-resolution melting (HRM) technique and confirmed by DNA sequencing. Results: The genotype distribution and allele frequency of the rs2234693 SNP were significantly different in BC patients compared to the control group (genotype frequency with P = 0.018 and allele frequency with P = 0.004, OR = 2.085, 95% CI = 1.253 -3.468). In genetic models, rs2234693 increased BC risk in recessive model (P = 0.005, OR = 2.813, 95% CI = 1.363 - 5.802). However, there was no significant difference regarding genotype distribution of the rs1801132 SNP between the BC patients and controls. Conclusions: Our results showed that the CC genotype of the rs2234693 SNP is significantly associated with BC. Accordingly, it can be suggested that the rs2234693 SNP be considered for susceptibility to BC.

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.

Association of a novel regulatory polymorphism (−938C>A) in the BCL2 gene promoter with disease progression and survival in chronic lymphocytic leukemia

Blood ◽  
2006 ◽  
Vol 109 (1) ◽  
pp. 290-297 ◽  
Author(s):  
Holger Nückel ◽  
Ulrich H. Frey ◽  
Maja Bau ◽  
Ludger Sellmann ◽  
Jens Stanelle ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Cox Regression ◽  
Gene Promoter ◽  
Lymphocytic Leukemia ◽  
Disease Stage ◽  
Genotype Distribution ◽  
Single Nucleotide ◽  
Regulatory Polymorphism ◽  
Time To First Treatment

Abstract Bcl-2 plays a key role in the regulation of apoptosis. We investigated the role of a novel regulatory single-nucleotide polymorphism (−938C>A) in the inhibitory P2 BCL2 promoter in B-cell chronic lymphocytic leukemia (B-CLL). The −938C allele displayed significantly increased BCL2 promoter activity and binding of nuclear proteins compared with the A allele. Concomitantly, Bcl-2 protein expression in B cells from CLL patients carrying the −938 AA genotype was significantly increased compared with CC genotypes. Genotype distribution between 123 CLL patients (42 AA, 55 AC, 26 CC) and 120 genotyped healthy controls (36 AA, 63 AC, 21 CC) was not significantly different, suggesting that genotypes of this polymorphism do not increase the susceptibility for B-CLL. However, median time from first diagnosis to initiation of chemotherapy and median overall survival were significantly shorter in patients with −938AA genotype (38 and 199 months, respectively) compared with AC/CC genotypes (120 and 321 months, respectively; P = .008 and P = .003, respectively). Multivariable Cox regression identified the BCL2−938AA genotype as an independent prognostic factor for the time to first treatment (hazard ratio [HR] 1.9; P = .034) together with disease stage at diagnosis (HR 2.5; P = .004) and ZAP-70 status (HR 3.0; P = .001). The BCL2−938AA genotype is associated with increased Bcl-2 expression and a novel unfavorable genetic marker in patients with B-CLL.

CAT-21 A/T Gene Polymorphisms Associated with Breast Cancer Susceptibility

2021 ◽  
Vol 32 (2) ◽  
pp. 79-84
Author(s):  
Kevin Owen ◽  
Siti Syarifah ◽  
Mutiara Indah Sari
Keyword(s):  
Breast Cancer ◽  
Oxidative Stress ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Healthy Control Group ◽  
Control Group ◽  
Genotype Distribution ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Healthy Control

Background: Oxidative stress induced cancer cell formation. Gene polymorphism plays roles in carcinogen metabolism, antioxidant and DNA repairing pathway was susceptibility to oxidative stress. This study aim to determine the association between CAT-21 A/T polymorphism with breast cancer susceptibility. Methods: Case control study was conducted on 65 breast cancer patient and 65 healthy control group. The whole blood samples were isolated from 65 breast cancer patients in Haji Adam Malik General Hospital Medan and 65 healthy control group. The CAT-21A/T polymorphism was analyzed by PCR-RFLP procedure. PCR-RFLP product was electrophoresed and visualized in agarose 4%. Results:The AA CAT-21 genotype were lower in breast cancer (BC) than healthy control (HC) group (31/47.7% vs 40/61.5%), in the contrary AT+TT genotype was greater in BC than HC group (34/52.3% vs 25/38.5%) with (p=0.159, OR=1.755, CI=0.874–3.525). A allele CAT-21 were found lower in BC than HC group (89/68.5% vs 105/80.8%) then T allele were greater in BC than HC group (41/31.5% vs 25/19.2%) with (p=0.033, OR=1.935;CI=1.022-3.428). Conclusions: There was significant difference in allele distribution of CAT-21 A/T between case and control group but no in genotype distribution. In this population study showed that allele of CAT -21 A/T polymorphism could represent as a risk factor to breast cancer. Bangladesh J Medicine July 2021; 32(2) : 79-84

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.

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