Analysis of paraoxonase-1 (PON1) gene polymorphisms in vitiligo / Vitiligo’da paroksinaz-1 (PON1) gen polimorfizminin araştırılması

2015 ◽  
Vol 40 (5) ◽  
Author(s):  
Havva Yıldız Seçkin ◽  
Göknur Kalkan ◽  
İsmail Benli ◽  
İlknur Bütün ◽  
Yalçın Baş ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Statistical Difference ◽  
Turkish Population ◽  
Allele Frequencies ◽  
Paraoxonase 1 ◽  
Control Group ◽  
Healthy Controls ◽  
Loss Of Function ◽  
Pon1 Gene ◽  
Homozygous Genotype

AbstractObjective: Vitiligo is a chronic autoimmune depigmentation disease, which is characterized by loss of function of the melanocytes in epidermis. Recent studies suggest that oxidant/antioxidant status plays important role in the pathogenesis of vitiligo. We aimed to investigate possible associations between vitiligo and PON1 M / L55 and PON Q192R gene polymorphisms in the Turkish community.Methods: The 57 patients with vitiligo and 69 healthy controls were enrolled into the study. Genotyping was performed to identify PON1 M / L55 and PON Q192R gene polymorphism. Genotype and allele frequencies were compared between patients with vitiligo and healthy control group.Results: In patients (p=0.0061) and healthy controls (p=0.550), there was no significant statistical difference between L55M and Q192R polymorphisms of the PON1 gene. However, when L55M polymorphism was compared to MM homozygous genotype and LL+LM genotypes, it was notably higher in controls than in patients, which seems to be protective against the disease (p=0.034, OR:0. 3, 95% CU: 0.08-0.93). Although, there was no not a statistical difference in allele frequencies of Q192R polymorphism between patients and controls (p=0.242), the M allele of L55M polymorphism was significantly higher in controls than in patients with vitiligo, which means that it might be protective against vitiligo (p=0.009, OR: 0.48, 95% CI: 0.27-0.84).Conclusion: Even though there were no differences between patients and controls, this is the first study that investigated the possible associations between the PON1 M/L55 and PON Q192R gene polymorphisms within the Turkish population.

scholarly journals The association between PON1 gene polymorphisms (Q192R and L55M) and nephrotic syndrome in Iraqi children

2021 ◽  
Vol 2 (03) ◽  
pp. 118-130
Author(s):  
Raghad Ali ◽  
Rayah Baban ◽  
Shatha Ali
Keyword(s):  
Nephrotic Syndrome ◽  
Lipid Profile ◽  
Density Lipoprotein ◽  
Lipoprotein Cholesterol ◽  
Paraoxonase 1 ◽  
Pon1 Activity ◽  
Healthy Controls ◽  
Coding Region ◽  
Pon1 Gene ◽  
Homozygous Genotype

Background: The role of paraoxonase 1 enzyme (PON1) and its single nucleotide polymorphisms (SNPs) in children with nephrotic syndrome (NS) has been reported previously in different ethnic and racial groups with divergent results. The human PON1 gene contains two coding region polymorphisms leading to two different PON1 isoforms. Objectives: The aim of the present study was to find out the association between the PON1 (Q192R and L55M) polymorphisms and their relation with serum PON1 activity as well as lipid profile tests (total cholesterol, TC; triglycerides, TG; high-density lipoprotein cholesterol, HDL-c; and low-density lipoprotein cholesterol, LDL-c) in children with NS. Methods: This study included a total of 80 participants (40 with NS in the age group of 2-14 years and 40 age and sex-matched healthy controls). The PON1 enzyme activity and lipid profile tests were measured in serum samples of all included participants. The PON1 genotype was determined by PCR-restriction enzyme fragment length polymorphism (PCR-RFLP) for both PON1 alleles (192 and 55) SNPs. Results: Our findings showed that the mean levels of lipid profile tests (TC, TG, LDL-c) were significantly increased in patients when compared with healthy controls (p<0.05), while the HDL-c concentration was significantly decreased in patients than that of controls. Also, the patients had significantly lower concentrations of PON1 when compared with the controls regardless of the genotype Q192R and L55M polymorphisms. Moreover, the homozygous RR genotype for PON1 SNP 192 and MM homozygous genotype for PON1 SNP 55 were significantly frequent in patients when compared with the controls. Conclusions: Our results support that the presence of the homozygous RR genotype for PON1 SNP 192 and MM homozygous genotype for PON1 SNP 55 were significantly higher in patients compared with the controls.

scholarly journals Association between apolipoprotein gene polymorphisms and hyperlipidemia: a meta-analysis

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Xiao-Ning Zhao ◽  
Quan Sun ◽  
You-Qin Cao ◽  
Xiao Ran ◽  
Yu Cao
Keyword(s):  
Risk Factor ◽  
Cerebrovascular Disease ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Control Group ◽  
Case Group ◽  
Healthy Controls ◽  
Ε4 Allele ◽  
Different Populations ◽  
The Impact

Abstract Background Hyperlipidemia plays an important role in the etiology of cardio-cerebrovascular disease. Over recent years, a number of studies have explored the impact of apolipoprotein genetic polymorphisms in hyperlipidemia, but considerable differences and uncertainty have been found in their association with different populations from different regions. Results A total of 59 articles were included, containing in total 13,843 hyperlipidemia patients in the case group and 15,398 healthy controls in the control group. Meta-analysis of the data indicated that APOA5–1131 T > C, APOA1 -75 bp, APOB XbaI, and APOE gene polymorphisms were significantly associated with hyperlipidemia, with OR values of 1.996, 1.228, 1.444, and 1.710, respectively. All P-values were less than 0.05. Conclusions Meta-analysis of the data indicated that the C allele of APOA5 1131 T > C, the A allele at APOA1-75 bp, the APOB XbaI T allele, and the ε2 and ε4 allele of APOE were each a risk factor for susceptibility for hyperlipidemia.

Interferon Gamma +874A/T Polymorphism in Children with Idiopathic Thrombocytopenic Purpura

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4539-4539
Author(s):  
Fatih Demircioglu ◽  
Hale Ören ◽  
Sefa Kizildag ◽  
Sebnem Yilmaz ◽  
Berna Atabay ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Interferon Gamma ◽  
Gene Polymorphisms ◽  
Statistical Difference ◽  
Control Group ◽  
Blood Samples ◽  
Chronic Itp ◽  
Significant Difference ◽  
Acute Itp ◽  
And Control

Abstract A recent study showed that expression of Toll-like receptor and interferon-gamma associated genes is significantly increased in patients with chronic ITP. Interferon-gamma is an important protein which takes place in immunoregulation. +874A/T polymorphism in the first introne of interferon gamma gene is found to be associated with the development and clinical phenotype of some autoimmune diseases such as diabetes mellitus, thyroiditis, multiple sclerosis, and SLE. The aim of our study was to investigate whether interferon gamma +874A/T polymorphism is a risk factor for the development of ITP and whether it affects the clinical course and response to the treatment. Thirty five children with acute ITP and 40 children with chronic ITP who were followed for at least 6 months were included. Control group consisted 90 healthy children. Two millilitres of blood sample was taken into sterile tubes containing 0.1% EDTA from each child and all blood samples were stored at −20 until analysis. DNA was isolated from blood samples and interferon gamma +874A/T polymorphism was studied with real-time PCR and LightCycler TM. Twenty one patients had AA, 35 patients had AT, and 19 patients had TT genotype. In the control group, 47 children had AA, 36 children had AT, and 7 children had TT genotype. There was a statistical difference between ITP and control group regarding the genotype (p=0.001). The frequency of A and T alleles in ITP group was 52% and 48%, respectively. The frequency of A and T alleles in control group was 72.7% and 27.8%, respectively. The frequency of allele distribution was statistically different between the ITP and control groups (p&lt;0.0001). There was a statistical significant difference between acute ITP and control group regarding the frequency of AA, AT, and TT gene polymorphisms and allele frequency (p=0.002, p=0.002). Similarly, there was a statistical significant difference between chronic ITP and control group regarding the frequency of AA, AT, and TT gene polymorphisms and allele frequency (p=0.008, p=0.002). The frequency of AA, AT, and TT gene polymorphisms and allele frequency showed no statistical difference between acute and chronic ITP groups (p=0.285, p=0.896). There was no correlation between interferon gamma +874A/T polymorphism and severity of bleeding (mild, moderate and severe) (p=0.09). There was no correlation between interferon gamma +874A/T polymorphism and response to long term treatment in patients with chronic ITP (p=0.568). In conclusion, there was a significant difference between patients with ITP and children in control group regarding interferon gamma +874A/T polymorphism and in the light of recent data involving other autoimmune disorders, we think that interferon gamma +874A/T polymorphism may be a risk factor for ITP.

Association Between Thr21Met and Ser89Asn Polymorphisms of the Urotensin II Gene and Systemic Sclerosis

2011 ◽  
Vol 39 (1) ◽  
pp. 106-111 ◽  
Author(s):  
YAVUZ PEHLIVAN ◽  
BULENT GOGEBAKAN ◽  
SERDAR OZTUZCU ◽  
METIN OZGEN ◽  
GÖZDE YILDIRIM CETIN ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
Gene Polymorphisms ◽  
Turkish Population ◽  
Allele Frequencies ◽  
Lung Involvement ◽  
Urotensin Ii ◽  
Finger Flexion ◽  
Fibrotic Disorder ◽  
Genotype And Allele Frequencies

Objective.Systemic sclerosis (SSc) is an autoimmune chronic fibrotic disorder. Urotensin II (U-II) is predominantly a vasoactive peptide with fibrotic and prothrombotic features. Like endothelin-1 (ET-1), U-II could play an important role in SSc pathogenesis. We evaluated the possible role of the U-II gene polymorphisms (Thr21Met and Ser89Asn) in the genetic susceptibility to SSc in a Turkish population.Methods.A total of 189 patients with SSc and 205 healthy controls were enrolled in our study. We analyzed the genotype and allele frequencies of the U-II (UTS2) gene polymorphisms Thr21Met and Ser89Asn in patients with SSc and in controls.Results.We found that the Thr21Met polymorphism of the UTS2 gene was markedly associated with the risk of developing SSc (p < 0.0001), but there was no relationship between the Ser89Asn polymorphism and SSc (p > 0.05). Two haplotypes (MS and TS) were markedly associated with SSc (p < 0.05). There were significant associations between the genotype and allele frequencies of UTS2 gene Thr21Met polymorphism and cases with diffuse or limited SSc, systemic or lung involvement, finger flexion deformity, pitting scars at the fingertips, positive anticentromere, or positive antitopoisomerase 1 antibody groups.Conclusion.Our study shows the association between Thr21Met, but not Ser89Asn, in the UTS2 gene and SSc. The results strongly suggest that this single-nucleotide polymorphism may be an important risk factor in the development of SSc, and a powerful indicator of severe skin and lung involvement in patients with SSc.

EED Gene Polymorphism in Patients with Colorectal Cancer

2013 ◽  
Vol 28 (3) ◽  
pp. 274-279 ◽  
Author(s):  
Geom Seog Seo ◽  
Ji-In Yu ◽  
Soo-Cheon Chae ◽  
Won Cheol Park ◽  
Sae Ron Shin ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lymph Node ◽  
Allele Frequency ◽  
Patient Group ◽  
Allele Frequencies ◽  
Control Group ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Haplotype Frequencies ◽  
Genotype And Allele Frequencies

Background Our previous work indicated that, first, the embryonic ectoderm development (EED) gene is a candidate gene associated with the pathogenesis of ulcerative colitis (UC) and, second, that the haplotypes of the EED polymorphism are one of the markers for UC susceptibility. The risk of developing colorectal cancer (CRC) increases in patients with inflammatory bowel disease. Aim The present study aimed at determining the association between polymorphisms in the EED gene and CRC. Methods Genotype analysis of EED single nucleotide polymorphisms (SNPs) was performed with high-resolution melting analysis, and the genotype and allele frequencies of the EED SNPs were compared between CRC patients and healthy controls. The haplotype frequencies of EED for multiple loci were estimated using the expectation maximization (EM) algorithm. Results Our study had a power of 76.6% at a 0.05 significance level. Genotype and allele frequencies of the SNPs and haplotype frequencies of the EED gene in CRC patients were not significantly different from those in healthy controls. Only the allele frequency of g.-1850G>C in the rectal cancer (RC) patient group was significantly different from that of the control group (p=0.04). Similarly, the genotype and allelic frequencies of the EED SNPs for either tumor site (left or right) or tumor stage were not significantly different from those in healthy controls. However, our data show an association between the g.-993G>C polymorphism in the EED gene and the presence of lymph node metastasis in CRC. Conclusions These results suggest that the SNPs of the EED gene might not be associated with susceptibility to CRC. However, this study shows that the allele frequency of g.-1850G>C in the RC patient group was significantly different from that in the control group (p=0.04) and that g.-993G>C may play a role in the lymph node metastatic process of CRC.

Glutamine-Arginine 192 Polymorphism of Paraoxonase 1 Gene in Coronary Artery Disease Patients Compared to Healthy Controls in a Study from Kerala

2021 ◽  
Vol 8 (03) ◽  
pp. 136-140
Author(s):  
Rakhi Sasidharan Nair ◽  
Roshni Hareendra Babu ◽  
Shajee Sivasankaran Nair ◽  
Saboora Beegum
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Paraoxonase 1 ◽  
Control Group ◽  
Case Group ◽  
Genotype Distribution ◽  
Healthy Controls ◽  
Allele Distribution ◽  
Significant Difference ◽  
Artery Disease

BACKGROUND Coronary artery disease is multifactorial in origin. Coronary artery disease predisposition is attributed to genetic factors also. Many gene polymorphisms are implicated out of which paraoxonase 1 (PON 1) gene is an important one. The product of paraoxonase gene is paraoxonase enzyme which is seen in serum associated with high density lipoprotein (HDL). This enzyme is mainly synthesised by the liver. The protective effect of HDL is attributed to the presence of such enzymes on it. Gln to Arg polymorphism at position 192 confers a risk of developing atherosclerosis and coronary artery disease (CAD). This study is done to assess the genotype distribution of PON 1 gene in CAD patients compared to healthy controls in a population from Kerala. METHODS The case group consists of 100 angiographically proven CAD patients with no history of hypertension, diabetes mellitus, hepatic disease or smoking. The control group had 100 healthy controls from the general population. PON 1 gene was amplified by a polymerase chain reaction (PCR) technique already reported and restriction fragment length polymorphism by the restriction enzyme Alwl was done to assess the polymorphism. to assess the polymorphism. RESULTS In this study, the frequency of heterozygous genotype QR was 86 % in control and 76 % in cases. Though there was no significant difference in allele distribution of Q or R, RR genotype was significantly higher in the case group ( 2 = 8.82; p value = .012). With binary logistic regression model, adjusting for age and sex, RR genotype is independently associated with CHD. Adjusted odds ratio of RR was 5.24 with 95 % confidence interval (CI) 1.41 - 19.47 for developing CHD (p < 0.05). CONCLUSIONS The RR genotype is more frequently seen in CAD patients than in controls. The QR genotype is more frequent than QQ or RR in both cases and controls. KEYWORDS Coronary Artery Disease, Paraoxonase, Gene Polymorphism

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