scholarly journals Investigation of Associations between Obesity andLEPG2548A andLEPR668A/G Polymorphisms in a Turkish Population

2013 ◽  
Vol 35 ◽  
pp. 673-677 ◽  
Author(s):  
Server Şahın ◽  
Aydın Rüstemoğlu ◽  
Akın Tekcan ◽  
Türker Taşliyurt ◽  
Hasan Güven ◽  
...  
Keyword(s):  
Leptin Receptor ◽  
Turkish Population ◽  
Control Groups ◽  
Genotype Frequencies ◽  
Increased Risk ◽  
Significant Difference ◽  
Polymerase Chain ◽  
Length Analysis ◽  
And Control

Objective.Obesity is a complex heterogeneous disease that is caused by genes, environmental factors, and the interaction between the two. The leptin (LEP) and leptin receptor (LEPR) genes have been evaluated for polymorphisms that could potentially be related to the pathophysiology of obesity and its complications. The aim of this study was to investigate the role ofLEPG2548A andLEPR668A/G polymorphisms in the pathogenesis of obesity.Subjects.The study included 127 patients with obesity and 105 healthy controls. Polymerase chain reaction and restriction fragment length analysis forLEPG2548A andLEPR668A/G polymorphisms were applied.Results.There was no statistically significant difference in the genotype frequencies of theLEPgene polymorphism between patients and control groups (P>0.05). We found a difference in theLEPRgenotypes between patients and controls, but this was not statistically significant (P=0.05). Additionally, we found an increased risk of obesity in theLEP/LEPRGG/GG combined genotype (P<0.05).Conclusion.Our findings indicate that theLEPG2548A polymorphism is not a relevant obesity marker and that theLEPR668A/G polymorphism may be related to obesity in a Turkish population. Further researches with larger patient population are necessary to ascertain the implications ofLEPandLEPRpolymorphisms in obesity.

Association between Vaspin rs2236242 Gene Polymorphism and Psoriasis Vulgaris

2020 ◽  
pp. 1-6
Author(s):  
Nazli Dizen-Namdar ◽  
Raziye Akcilar ◽  
Zeynep Bayat
Keyword(s):  
Gene Polymorphism ◽  
Metabolic Disorders ◽  
Psoriasis Vulgaris ◽  
Turkish Population ◽  
Inflammatory Skin Disease ◽  
Control Groups ◽  
Diagnostic Biomarkers ◽  
Increased Risk ◽  
Visceral Adipose ◽  
And Control

<b><i>Background:</i></b> Psoriasis known as a chronic inflammatory skin disease is accompanied by metabolic disorders such as obesity, diabetes, and dyslipidemia. Vaspin (a serine protease inhibitor derived from visceral adipose tissue) is a newly identified adipokine and a link between inflammation and obesity has been reported. We aimed to determine whether vaspin gene polymorphism is associated with the development and/or clinical features of psoriasis vulgaris. <b><i>Methods:</i></b> Our study group consisted of 96 psoriasis vulgaris patients and 100 matched controls. Vaspin rs2236242 gene was genotyped using PCR. <b><i>Results:</i></b> The vaspin genotypes showed a meaningful difference between psoriasis and control groups (<i>p</i> = 0.02). The frequency of the vaspin rs2236242 TT genotype was lower in psoriasis patients than in control participants (<i>p</i> &#x3c; 0.05). The TA genotype was associated with a 2.38-fold increased risk of psoriasis compared to the TT genotype (<i>p</i> = 0.007, odds ratio: 2.38; 95% confidence interval: 1.25–4.55), but not the AA genotype. All subjects were the Turkish population, the study in other populations is needed and the sample size was small in number. <b><i>Conclusion:</i></b> Our study demonstrated that vaspin rs2236242 polymorphism is related to psoriasis in the Turkish population. Polymorphisms of the vaspin gene might serve as diagnostic biomarkers of psoriasis.

scholarly journals THE ROLE OF INTERLEUKIN 1β GENE POLYMORPHISM IN DEVELOPMENT OF PREDOMINANTY SENSORY CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY

2019 ◽  
Vol 21 (1) ◽  
pp. 141-148
Author(s):  
T. E. Popova ◽  
N. A. Shnayder ◽  
M. M. Petrova ◽  
A. A. Tappakhov
Keyword(s):  
Chronic Inflammatory Demyelinating Polyneuropathy ◽  
Study Groups ◽  
Krasnoyarsk Region ◽  
Genotype Frequencies ◽  
Increased Risk ◽  
Significant Difference ◽  
Risk Of Disease ◽  
T Locus ◽  
Il1b Gene

The aim of the present study was a search for associations between the polymorphic allelic variants 3954 C>T (rs1143644) and -511C>T (rs16944) of IL1B gene in the patients with sensory predominant chronic inflammatory demyelinating polyneuropathies (SP-CIDP) from Krasnoyarsk Region and the Sakha (Yakutia) Republic. A total of 95 people were examined, having been divided into 2 groups according to their residence. The first group consisted of 42 patients living in the Sakha (Yakutia) Republic. The second group included 53 patients living in the Krasnoyarsk Region. It was revealed that the carriers of homozygous CC genotype in the 3954C>T locus were more often detected in patients from the Sakha (Yakutia) Republic, and the carriage of TT genotype is found exclusively in the patients from Krasnoyarsk Region. When comparing the different genotype frequencies in the -511CT locus, we did not reveal any statistically significant differences between the two groups of patients. Presence of the CC genotype of the 3954C>T locus was associated with a significantly increased risk of disease in the patients from Sakha (Yakutia) Republic, while carrying CT and TT genotypes at the locus 3954C>T and the TT genotype at the locus -511C>T, is associated with increased risk disorder among patients of the Krasnoyarsk Region. The frequency of carriage of various genotypes in the 3954C>T and -511C>T loci of the IL1B gene was prevalent among the patients from the Sakha (Yakutia) Republic, the association of genotypes of CC/CT prevailed in patients from the Krasnoyarsk Region (p = 0.005), as well as prevalence of CC/CC and CC/CT (p = 0.023). However, there was no statistically significant difference in occurrence of individual genotypes between the two study groups. When analyzing the carrier frequency of high-producing alleles of 3954C and -511C in patients with SP-CIDP, it was shown that they were significantly more common among patients from the Sakha (Yakutia) Republic and patients from the Krasnoyarsk Region than the low-producing 3954T and -511T alleles. Moreover, the 3954C allele was more often found in the Yakut group (p = 0.001), and in the -511C allele for the Krasnoyarsk group of patients (p = 0.05). The presence of 3954C and -511C alleles increases the risk of SP-CIDP development in patients from the Sakha (Yakutia) Republic, as well as carriage of 3954T allele in patients from the Krasnoyarsk Region.

Investigating ADAMTS7 and ADAMTS12 levels in prediabetic and Type 2 diabetic patients

2021 ◽  
Author(s):  
Mercan Taştemur ◽  
Selvihan Beysel ◽  
Sema Hepşen ◽  
Sanem Öztekin ◽  
Erman Çakal ◽  
...  
Keyword(s):  
Inflammatory Markers ◽  
Diabetic Patients ◽  
Control Groups ◽  
Type 2 Diabetic Patients ◽  
Human Enzyme ◽  
Significant Difference ◽  
And Control ◽  
Type 2 Diabetic

Background: This study aims to investigate the role of ADAMTS7 and ADAMTS12 on atherosclerosis and inflammation in prediabetic and diabetic patients. Patients & methods: Serum ADAMTS7 and ADAMTS12 levels were compared with the atherosclerotic and inflammatory markers in diabetic (n = 65, female 30.9%, mean age = 53 years), prediabetic (n = 55, female 36.6%, mean age = 49 years) and control groups (n = 55, females 32.5%, mean age = 49 years). Serum ADAMTS levels were determined by a human enzyme-liked immunoassay. Results: In terms of ADAMTS7, there was no significant difference between diabetic, prediabetic and control groups (50.93, 44.34, 59.07, respectively; p > 0.05). ADAMTS12 is lower in diabetics (p < 0.05), whereas it is similar in prediabetics and controls (14.53, 20.76, 25.05, respectively; p > 0.05). ADAMTS7 and ADAMTS12 levels did not differ in diabetic nephropathy, retinopathy and neuropathy (p > 0.05). Conclusion: While ADAMTS12 was significantly lower in diabetics and prediabetics, ADAMTS7 and ADAMTS12 were not related to diabetic complications (nephropathy, retinopathy and neuropathy).

CYP1A1 gene polymorphism and risk of endometrial hyperplasia and endometrial carcinoma

2006 ◽  
Vol 16 (3) ◽  
pp. 1407-1411
Author(s):  
I. Esinler ◽  
D. Aktas ◽  
M. Alikasifoglu ◽  
E. Tuncbilek ◽  
A. Ayhan
Keyword(s):  
Endometrial Carcinoma ◽  
Endometrial Hyperplasia ◽  
Turkish Population ◽  
Large Sample Size ◽  
Environmental Carcinogens ◽  
Cyp1a1 Gene ◽  
Increased Risk ◽  
Allele Specific ◽  
Polymerase Chain ◽  
And Control

The cytochrome P4501A1 (CYP1A1) is involved in the metabolism of environmental carcinogens and estrogen. We hypothesized that CYP1A1 genetic polymorphism may be a susceptibility factor for endometrial hyperplasia (EH) and endometrial carcinoma (ECa). We therefore evaluated this hypothesis in patients with EH and ECa and control subjects using allele-specific polymerase chain reaction–based method in a Turkish population. The patients with CYP1A1 Ile/Val genotype had a fivefold higher risk of having EH than those with Ile/Ile. In contrast, a higher frequency of any Val genotype (Ile/Val and Val/Val) was found in patients with EH, indicating that persons carrying any Val allele are at increased risk for developing EH. In the ECa group, patients were also more likely to have CYP1A1 Ile/Val allele, with an adjusted odds ratio of 3.0. Moreover, there was a statistically significant increase in relative risk association with any Val genotype between patients and controls, suggesting that individuals carrying any Val genotype are at increased risk for developing ECa. We concluded that variant alleles of the CYP1A1 gene might be associated with EH and ECa susceptibility. Further studies with a large sample size should be considered to address issues of interactions between CYP1A1 and other risk factors.

Obstetric antiphospholipid syndrome is not associated with an increased risk of subclinical atherosclerosis

Rheumatology ◽  
2020 ◽  
Vol 59 (12) ◽  
pp. 3709-3716 ◽  
Author(s):  
Alessandra Bettiol ◽  
Giacomo Emmi ◽  
Martina Finocchi ◽  
Elena Silvestri ◽  
Maria Letizia Urban ◽  
...  
Keyword(s):  
Subclinical Atherosclerosis ◽  
Intima Media Thickness ◽  
Control Groups ◽  
Carotid Plaques ◽  
Increased Risk ◽  
Obstetric Antiphospholipid Syndrome ◽  
Obstetric Aps ◽  
Negative Controls ◽  
And Control

Abstract Objectives The persistent positivity of aPLs, either isolated or associated with thrombotic and/or obstetric events (APS), has been associated with the increase of intima-media thickness (IMT) and carotid plaques. Despite the fact that aPLs can promote both thrombotic and obstetric complications, some pathogenic differences have been documented between the two entities. This study aimed to evaluate whether the atherosclerotic risk differs between subjects with obstetric and thrombotic APS. Methods A total of 167 APS women (36 obstetric and 131 thrombotic) were compared with 250 aPLs negative controls. IMT of the common carotid artery (CCA) and of the bulb and the prevalence of carotid plaques were assessed. Results CCA- and bulb-IMT were significantly higher in women with thrombotic APS, while being similar between the obstetric APS and the controls [CCA-IMT: mean (s.d.) 0.97 (0.49), 0.78 (0.22) and 0.81 (0.12) mm for the thrombotic, obstetric and control groups, respectively, P &lt; 0.001 between thrombotic and controls, P = 0.002 between thrombotic and obstetric; bulb-IMT: mean (s.d.) 1.38 (0.79), 0.96 (0.27) and 0.96 (0.51) mm for the thrombotic, obstetric and control groups, P &lt; 0.001]. Women with thrombotic APS had significantly increased risk of presenting carotid plaques. This risk was significantly lower in obstetric APS. Conclusion Unlike thrombotic APS, obstetric APS is not associated with an increase of markers of subclinical atherosclerosis. If confirmed on wider populations, these results could suggest different pathogenetic role of aPLs in promoting atherosclerosis in vascular and obstetric APS, and raise questions on the risk–benefit profile of thromboprophylaxis in obstetric APS outside pregnancy periods.

A polymorphic marker Val109Asp in the omentin gene are associated with abdominal obesity in the Kyrgyz population

2016 ◽  
Vol 62 (3) ◽  
pp. 4-8
Author(s):  
Zhainagul T. Isakova ◽  
Elnura T. Talaibekova ◽  
Diana A. Asambaeva ◽  
Alina S. Kerimkulova ◽  
Olga S. Lunegova ◽  
...  
Keyword(s):  
Abdominal Obesity ◽  
Polymorphic Marker ◽  
Genotype Frequencies ◽  
Homozygous Genotype ◽  
Increased Risk ◽  
Significant Difference ◽  
Pcr Rflp ◽  
And Control ◽  
Male Subjects ◽  
Kyrgyz Population

Aim — in this study, we investigated whether polymorphisms Val109Asp in the omentin gene are associated with abdominal obesity in the Kyrgyz population.Material and methods. We genotyped 297 nonrelated adults Kyrgyz individuals. 127 patients (male — 46, female — 81, average age — 53±7,0) with abdominal obesity (elevated waist circumferences ≥102 cm for male subjects and ≥ 88 cm for female) and 170 non-obese control subjects (male — 107, female — 63, average age 51±9). Val109Asp polymorphisms analysis in the omentin gene were performed by PCR-RFLP method.Results. There were significant differences in genotype distributions of rs2274907 between the obese and control cohorts (p=0.01). Frequencies of Asp109Asp, Val109Asp and Val109Val genotypes among patients with abdominal obesity were 48, 40 and 12%, respectively, that differed from those among controls (Asp109Asp — 53%, Val109Aspl — 43% and Val109Val — 4%); there was significant difference in genotype frequencies between two groups (χ²=6,29; p=0,043). Homozygous genotype Val109Val was more frequent in the obese than non-obese group. The genotype Val109Val of omentin gene is associated with a high risk of developing abdominal obesity in the Kyrgyz population (OR=3,12; 95% CI 1,23—7,90). Homozygous genotype Asp109Asp, reduces the risk of developing abdominal obesity (OR=0,82; 95% CI 0,53—1,30). The allelic variants of the polymorphisms Val109Asp in the omentin gene were not found to be associated with abdominal obesity.Conclusion. There is significant association between Val109Asp polymorphism in omentin gene and abdominal obesity in the Kyrgyz Population. An increased risk of abdominal obesity associated with homozygous genotype — Val109Val in omentin gene.

scholarly journals Variants in the 3′ End of SLC6A3 in Northwest Han Population with Parkinson’s

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Peiye Chang ◽  
Yongwang Fu ◽  
Ping Zhao ◽  
Chunmei Wang ◽  
Mingfang Jiang ◽  
...  
Keyword(s):  
Genetic Factors ◽  
Allele Frequencies ◽  
Control Group ◽  
Control Groups ◽  
Han Population ◽  
Significant Difference ◽  
And Control ◽  
Normal Controls ◽  
Genotype And Allele Frequencies

Parkinson’s disease (PD) is one of the most common neurodegenerative disorders in neurology. It is possible that multifactorial and genetic factors are related to its pathogenesis. Recently, there have been reports of SLC6A3 genetic variants leading to PD. However, the role of 3′ end of SLC6A3 in PD is less studied in different ethnic groups. To explore the roles of 3′ end of SLC6A3 in PD development, 17 SNP sites in 3′ end of SLC6A3 were analyzed in 360 PD patients and 392 normal controls of Han population residing in northwest of China. The significant difference of gene type and allele frequencies between the PD and control groups was detected only in rs40184 (P = 0.013 and 0.004, respectively; odds ratio 2.529, 95% confidence interval 1.325–4.827). The genotype and allele frequencies of the other 16 SNP sites were not found to be different between the PD group and the control group. rs2550936, rs3776510, and rs429699 were selected to construct the haplotypes; no significant difference was found in a frequency of 5 haplotypes between the PD group and the control group. These results suggest that the SLC6A3 variant in rs40184 A allele may increase the risk of PD in northwest Han population and may be a biomarker of PD.

scholarly journals Assessment of Carotid Artery Distensibility and Elasticity in Patients with Asthma

2021 ◽  
Author(s):  
Hatice Eylül Bozkurt Yılmaz ◽  
Mustafa Yılmaz
Keyword(s):  
Severe Asthma ◽  
Persistent Asthma ◽  
Control Group ◽  
Control Groups ◽  
Asthmatic Patients ◽  
Increased Risk ◽  
Significant Difference ◽  
Healthy Control ◽  
Carotid Distensibility ◽  
And Control

As asthma and atherosclerosis have similar pathophysiological mechanisms and risk factors, asthmatic patients may have an increased risk of atherosclerosis. This study aimed to determine the possibility of a higher risk of atherosclerosis in asthma patients compared with healthy controls by measuring carotid elasticity and distensibility. This was a cross-sectional study on 326 participants including 221 patients (129 [58.37%] females) with persistent asthma, aged 46.47±11.58 years, body mass index (BMI) of 29.74±3.99, and 105 healthy control subjects (60 [57.14%] females) aged 46.08±11.35 years, and BMI of 29.42±3.76. Of the 221 patients with asthma, 75 (33.93%) had mild, 74 (33.48%) had moderate and 72 (32.57%) had severe asthma. The carotid distensibility and elasticity were recorded and compared in both patients and control groups. There was no statistically significant difference between the patients and healthy control groups in terms of age, BMI and gender (p=0.775, p=0.482, and p=0.834, respectively). A statistically significant difference was determined between the patient and control groups in respect of both distensibility and elasticity (10.93±1.64 vs. 11.5±1.31, p=0.002 and 0.21±0.03 vs. 0.22±0.04, p=0.001, respectively). Statistically significant differences were determined between the control group and the asthma subgroups in respect of distensibility and elasticity (p<0.001, for both comparisons). The results showed that the difference was mainly due to the patients with severe asthma. Carotid distensibility and elasticity were decreased in asthmatic patients, and the main reason for this decrease was the patients in the severe asthma group. These results may suggest that the risk of subclinical carotid atherosclerosis is increased in patients with asthma, especially those with severe asthma.

scholarly journals CLU Polymorphisms in Patients with Pseudoexfoliation Syndrome in Polish Population

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Hanna Lesiewska ◽  
Katarzyna Linkowska ◽  
Joanna Stafiej ◽  
Tomasz Grzybowski ◽  
Jacek Swobodziński ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Disease State ◽  
Pseudoexfoliation Syndrome ◽  
Polish Population ◽  
Control Groups ◽  
Control Subjects ◽  
Genotype Frequencies ◽  
Significant Difference ◽  
And Control

Purpose. To evaluate CLU polymorphisms in patients with pseudoexfoliation syndrome. Materials and Methods. We studied 81 patients (23 males and 58 females, the median age 76 years) and 91 control subjects (27 males and 64 females, the median age 75 years). Genotypes of the CLU polymorphisms (SNPs), rs3087554 and rs2279590, were determined using a commercially available validated genotyping assays. The χ2 test was performed to compare patient and control groups for possible associations between SNP genotype/allele frequency and disease state. Results. There were no significant differences for both allele and genotype frequencies between PEX patients and controls for rs3087554 and rs2279590 polymorphisms. The haplotypes distribution shows statistically significant difference between groups p=0.03. The haplotype (CT) more often was found in controls than in PEX patients, conferring an 18-fold decreased risk to the disease. Conclusion. Our results indicate that CLU variants may contribute to the risk of PEX in the Polish population.

scholarly journals Role of Synadenium grantii latex proteases in nematicidal activity on Meloidogyne incognita and Panagrellus redivivus

2019 ◽  
Vol 79 (4) ◽  
pp. 665-668 ◽  
Author(s):  
E. H. Gomes ◽  
F. E. F. Soares ◽  
D. C. Souza ◽  
L. T. Lima ◽  
B. L. Sufiate ◽  
...  
Keyword(s):  
Meloidogyne Incognita ◽  
Room Temperature ◽  
Chitinase Activity ◽  
Nematicidal Activity ◽  
Control Groups ◽  
Panagrellus Redivivus ◽  
Significant Difference ◽  
And Control ◽  
Plant Latex

Abstract Synadenium grantii is a Euphorbiaceae plant commonly found in Brazil, known as Janaúba or Leitosinha, whose latex is traditionally used for several purposes. However, it is not known whether the nematicidal action of this plant latex occurs due to the action of proteases. The present work aims to evaluate the nematicidal activity of proteases from Synadenium grantii latex on Meloidogyne incognita and Panagrellus redivivus. S. grantii latex used in the present study was collected from specimens found in Universidade Federal de Viçosa, Viçosa, Minas Gerais, Brazil. The drained latex was collected in Eppendorf microtubes and immediately stored on ice at 4 °C. After this extraction, the latex was frozen (-20 °C) during 2 hours, thawed at room temperature (25 °C) and centrifuged at 10,000 g at 4 °C for 30 minutes to remove larger particles and concentrate the proteases. After the centrifugation, assays of enzymatic activity were performed in order to know in which of the phases the enzymes were found. S. grantii latex presented protease, but no chitinase activity. The results show that there was a significant difference (p <0.01) between the treated and control groups, with 100% mortality of Meloidogyne incognita and 72% average mortality of Panagrellus redivivus. In addition, it was demonstrated that the nematicidal action occurred due to the action of the proteases, since the control was only differentiated from the treatment by the presence of the enzymes with biological activity.

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