TPH1 and 5-HTTLPR Genes Specifically Interact in Opiate Dependence but Not in Alcohol Dependence

2016 ◽  
Vol 22 (4) ◽  
pp. 201-209 ◽  
Author(s):  
Tzu-Yun Wang ◽  
Sheng-Yu Lee ◽  
Yi-Lun Chung ◽  
Shiou-Lan Chen ◽  
Chia-Ling Li ◽  
...  
Keyword(s):  
Promoter Region ◽  
Chinese Population ◽  
Significant Interaction ◽  
Fragment Length Polymorphism ◽  
Opiate Dependence ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Polymerase Chain ◽  
And Function ◽  
Alcohol Dependent

Background: Different drug dependencies may have unique genetic vulnerabilities. Changes in serotonin availability and function have been linked to addiction. We investigated whether 2 serotonergic polymorphisms, TPH1 A218C (rs1800532) and 5-HTT-linked promoter region (5-HTTLPR) (rs25531), are differently associated with alcohol or opiate dependence. Methods: Alcohol-dependent patients (n = 292), opiate-dependent patients (n = 309), and healthy controls (n = 301) were recruited from the Han Chinese population in Taiwan. Genotypes of TPH1 A218C and 5-HTTLPR polymorphisms were analyzed using a polymerase chain reaction with restriction fragment length polymorphism. Results: The genotype frequencies of the TPH1 A218C polymorphisms were not significantly different in the 3 groups. The genotype frequencies of the 5-HTTLPR S+ (S/S, S/LG, LG/LG) polymorphisms were significantly higher in opiate-dependent patients (χ2 = 8.77, p = 0.01), but not after controlling for the covariates of age, gender, and interaction effect in logistic regression analysis. Moreover, there was a significant interaction between the TPH1 A218C A/C and 5-HTTLPR S+ gene polymorphisms in opiate-dependent (OR 2.72, p = 0.01), but not in alcohol-dependent patients. Conclusions: Our data suggested that there may be a differential genetic vulnerability in serotonergic genes for alcohol and opiate addiction. However, replications of our findings are still needed.

scholarly journals Interleukin-16Polymorphism Is Associated with an Increased Risk of Ischemic Stroke

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Xiao-li Liu ◽  
Jian-zong Du ◽  
Yu-miao Zhou ◽  
Qin-fen Shu ◽  
Ya-guo Li
Keyword(s):  
Ischemic Stroke ◽  
Chinese Population ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Sequencing Method ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
The Relationship ◽  
Genotype And Allele Frequencies

Clinical and experimental data have demonstrated that inflammation plays fundamental roles in the pathogenesis of ischemic stroke. Interleukin-16 (IL-16) is identified as a proinflammatory cytokine that is a key element in the ischemic cascade after cerebral ischemia. We aimed to examine the relationship between theIL-16polymorphisms and the risk of ischemic stroke in a Chinese population. A total of 198 patients with ischemic stroke and 236 controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing method. We found that the rs11556218TG genotype and G allele ofIL-16were associated with significantly increased risks of ischemic stroke (TG versus TT, adjusted OR = 1.88; 95% CI, 1.15–3.07; G versus T, adjusted OR = 1.54; 95% CI, 1.05–2.27, resp.). However, there were no significant differences in the genotype and allele frequencies ofIL-16rs4778889 T/C and rs4072111 C/T polymorphisms between the two groups, even after stratification analyses by age, gender, and the presence or absence of hypertension, diabetes mellitus, hypercholesterolemia, and hypertriglyceridemia. These findings indicate that theIL-16polymorphism may be related to the etiology of ischemic stroke in the Chinese population.

scholarly journals The effect of survivin gene in breast cancer risk and prognosis

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Roya Mashadiyeva ◽  
Canan Cacina ◽  
Soykan Arikan ◽  
Saime Sürmen ◽  
Seyda Demirkol ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Tumor Suppressor Genes ◽  
Promoter Region ◽  
Tumor Necrosis ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Inhibitory Protein ◽  
Pcr Rflp ◽  
Polymerase Chain

Abstract Objectives The accumulation of genetic damages in onset of cancer induce activation of protooncogenes or inactivation of tumor suppressor genes thus cause disruption of the balance between cell proliferation and programmed cell death. As a member of the apoptosis inhibitory protein family (IAP), survivin play important roles in carcinogenesis process. The evidence suggests that polymorphisms located in survivin promoter region may be important in determining genetic susceptibility of cancer. In this study, we aimed to examine a possible role of survivin −31 and −625 G/C gene polymorphisms in breast cancer. Methods A total of 160 breast cancer cases and 153 healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. Results Genotype and allele distributions and of −31 and −625 G/C polymorphisms were not significantly different between two groups. However, we observed the carriers of survivin −625 C/G polymorphism homozygous genotypes (GG/CC) were the significantly higher in patients with tumor necrosis (p=0.047). Conclusions Our results suggest that survivin −625 C/G polymorphism may be related with tumor prognosis, but we are opinion of that our result require to be validated in larger samples and further comprehensive research may explore the correlation.

scholarly journals Analysis of the Association Between MicroRNA Biogenesis Gene Polymorphisms and Venous Thromboembolism in Koreans

2019 ◽  
Vol 20 (15) ◽  
pp. 3771 ◽  
Author(s):  
Eun Ju Ko ◽  
Eo Jin Kim ◽  
Jung Oh Kim ◽  
Jung Hoon Sung ◽  
Han Sung Park ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Fragment Length Polymorphism ◽  
Blood Clot ◽  
Circulatory System ◽  
Mirna Biogenesis ◽  
Chain Reaction ◽  
Vein Thrombosis ◽  
Polymerase Chain ◽  
And Function ◽  
Deep Vein

Venous thromboembolism (VTE) involves the formation of a blood clot, typically in the deep veins of the leg or arm (deep vein thrombosis), which then travels via the circulatory system and ultimately lodges in the lungs, resulting in pulmonary embolism. A number of microRNAs (miRNAs) are well-known regulators of thrombosis and thrombolysis, and mutations in miRNA biogenesis genes, such as DICER1, DROSHA have been implicated in miRNA synthesis and function. We investigated the genetic association between polymorphisms in four miRNA biogenesis genes, DICER1 rs3742330A > G, DROSHA rs10719T > C, RAN rs14035C > T and XPO5 rs11077A > C, and VTE in 503 Koreans: 300 controls and 203 patients. Genotyping was assessed with polymerase chain reaction-restriction fragment length polymorphism assays. We detected associations between polymorphisms in RAN and XPO5 and VTE prevalence (RAN rs14035CC + CT versus TT: p = 0.018; XPO5 rs11077AA + AC versus CC: p < 0.001). Analysis of allele combinations of all four polymorphisms (DICER1, DROSHA, RAN, XPO5) revealed that A-T-T-A was associated with decreased VTE prevalence (p = 0.0002), and A-T-C-C was associated with increased VTE prevalence (p = 0.027). Moreover, in subjects with provoked VTE, the DROSHA rs10719T > C, polymorphism was associated with increased disease prevalence (TT versus TC + CC: p < 0.039). Our study demonstrates that RAN and XPO5 polymorphisms are associated with risk for VTE in Korean subjects.

scholarly journals Association Of Mir-196a (Rs11614913) And Mir-499 (Rs3746444) With Ischemic Stroke An Iranian Study

2017 ◽  
pp. 20
Author(s):  
Mehrzad Pourjafar ◽  
Halimeh Zare ◽  
Maryam Kohan ◽  
Negar Azarpira
Keyword(s):  
Polymerase Chain Reaction ◽  
Ischemic Stroke ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Increased Risk ◽  
Pcr Rflp ◽  
The Common ◽  
Polymerase Chain ◽  
And Function ◽  
Restriction Fragment Length

Objective: MicroRNAs are involved in the regulation of many physiological and pathological processes, such as atherosclerosis. Genetic polymorphisms in microRNA may affect its biogenesis and function. The aim of this study was to examine whether microRNA polymorphisms (mir-196a rs11614913 and mir-499 rs3746444) contribute to the risk of ischemic stroke. Methods: Genotyping was performed in 85 patients and 105 normal control, using polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method.Results: In respect of rs11614913, significant association was observed between CC (P=0.003; OR= 0.41; CI=0.21 – 0.79), and TT (P=0.025; OR=2.22; CI=1.04 –4.8) genotypes. The inheritance of T allele increased the risk of ischemic stroke. There was a significant association between the GA genotype frequency of rs3746444 (P=0.01; OR= 0.41; CI=0.23– 0.87). TDiscussion: The present study provided evidence that the mir-196a and mir-499 polymorphisms are associated with a significantly increased risk of ischemic stroke in Iranian population. The common genetic polymorphism in pre-microRNAs may be contributed to the pathogenesis of ischemic stroke and represented as novel markers for stroke susceptibility.     

scholarly journals rs744166 Polymorphism of theSTAT3Gene Is Associated with Risk of Gastric Cancer in a Chinese Population

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Kexin Yuan ◽  
Huimin Liu ◽  
Lina Huang ◽  
Xiyun Ren ◽  
Jingjing Liu ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Environmental Factors ◽  
Chinese Population ◽  
Case Control Study ◽  
Fragment Length Polymorphism ◽  
Chinese Patients ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Control Study ◽  
Development Of Gastric Cancer

The aim of this study was to explore the association between polymorphisms in signal transducer and activator of transcription protein 3 (STAT3) and the risk of gastric cancer. In the present study, a case-control study was conducted in which rs2293152 and rs744166 polymorphisms inSTAT3were analyzed in 209 Chinese patients with gastric cancer and 294 cancer-free controls. The genotypes were determined by polymerase chain reaction restriction fragment length polymorphism method. For the rs744166 polymorphism, the TC genotype (adjustedOR=0.60, 95% CI = 0.39–0.92, andP=0.020) and CC genotype (adjustedOR=0.41, 95%CI=0.21–0.80, andP=0.009) were associated with a decreased risk of gastric cancer compared to the TT genotype. However, rs2293152 did not show any difference in gastric cancer risk between patients and controls in the CG/CC genotype compared to the GG genotype. Besides, the SNP effects were additive to the effects of environmental factors without any interaction between them in the susceptibility to gastric cancer. Collectively, rs744166 polymorphism might be significantly associated with a decreased risk of gastric cancer in a Chinese population. Additionally, polymorphisms inSTAT3, along with environmental factors, might be associated with the development of gastric cancer.

scholarly journals Polymorphism of the SNP g. 1180 C>T in leptin gene and its association with growth traits and linear body measurement in Kebumen Ongole Grade cattle

2019 ◽  
Vol 44 (2) ◽  
pp. 125
Author(s):  
A. Fathoni ◽  
D. Maharani ◽  
R. N. Aji ◽  
R. Choiri ◽  
S. Sumadi
Keyword(s):  
Fragment Length Polymorphism ◽  
Growth Traits ◽  
Body Measurement ◽  
Chain Reaction ◽  
Genotypic Distribution ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Weaning Age ◽  
Polymerase Chain ◽  
Linear Body

The aim of this study was to identify the polymorphism of leptin gene and its association with growth traits in Kebumen Ongole Grade cattle. One hundred blood samples were collected for molecular analysis. Polymorphism of the leptin gene was analyzed using Polymerase Chain Reaction - Restriction Fragment Length Polymorphism (PCR-RFLP) with HpyCH4V restriction enzyme and DNA sequencing. Association analysis of the leptin gene with growth traits was analyzed by T-test. The results showed that SNP g. 1180 C>T was found in the population.The SNP changed amino acid from arginine to cysteine. The SNP was significantly associated with a high chest circumference at weaning age in animal having CC genotype (P<0.05). There were two identified alleles, namely C and T, with frequencies were 0.885 and 0.115,respectively. The genotype frequencies of CC, CT and TT were 0.78, 0.21 and 0.01, respectively. Allelic and genotypic distribution in the studied population were in Hardy-Weinbergequilibrium. Animals with CC genotype had a higher circumference at weaning age (WCC) than those with CT genotype. In conclusion, SNP g. 1180 C> T in the leptin gene is potential as genetic marker for growth traits in Kebumen Ongole Grade cattle.

Pharmacogenetic relevant polymorphisms of CYP2C9, CYP2C19, CYP2D6, and CYP3A5 in Bhutanese population

2019 ◽  
Vol 34 (4) ◽  
Author(s):  
Palden Wangyel Dorji ◽  
Sonam Wangchuk ◽  
Kanyarat Boonprasert ◽  
Mayuri Tarasuk ◽  
Kesara Na-Bangchang
Keyword(s):  
Polymerase Chain Reaction ◽  
Fragment Length Polymorphism ◽  
Allele Frequencies ◽  
Drug Reactions ◽  
Pharmacological Treatments ◽  
Chain Reaction ◽  
East Asians ◽  
Genotype Frequencies ◽  
Polymerase Chain ◽  
Restriction Fragment Length

Abstract Background Marked differences among genotype frequencies (Caucasians, Asians, and Africans) have been observed in cytochrome P450 (CYP) genes. Data on the frequency of pharmacogenetic relevant polymorphisms in Bhutanese population is absent. This study aimed to investigate the frequencies of pharmacogenetic relevant polymorphisms of CYP2C9 (*2 and *3), CYP2C19 (*2 and *3), CYP2D6 (*10), and CYP3A5 (*3) in Bhutanese population. Methods Genotyping was performed in 443 DNA samples using polymerase chain reaction-restriction fragment length polymorphism. Results For CYP2C9, allele frequencies of *2 and *3 variants were 0.339% and 0%, respectively. For CYP2C19, frequencies of *2 and *3 variants were 30.135% and 15.689%, respectively. Allele frequencies of CYP2D6*10 and CYP3A5*3 were 21.332% and 77.314%, respectively. Allele frequencies of CYP2C9*2 are similar to most Asians while CYP2C9*3 was absent. CYP2C19*2 showed a close resemblance to Japanese and Burmese, while CYP2C19*3 is near to Japanese and Korean. CYP2D6*10 is noticeably lower than other Asians. CYP3A5*3 is similar to East Asians (Chinese, Japanese, and Korean). Conclusions The Bhutanese population is polymorphic for these CYP genes, except for CYP2C9*3. Similar to other populations, genetic testing for these genes may, therefore, be helpful to obtain the benefit from pharmacological treatments and prevent adverse drug reactions.

scholarly journals MMP-2 and MMP-9 Polymorphisms and Preeclampsia Risk in Tunisian Arabs: A Case-Control Study

2021 ◽  
Vol 10 (12) ◽  
pp. 2647
Author(s):  
Marwa Ben Ali Gannoun ◽  
Nozha Raguema ◽  
Hedia Zitouni ◽  
Meriem Mehdi ◽  
Ondrej Seda ◽  
...  
Keyword(s):  
Promoter Region ◽  
Case Control Study ◽  
Fragment Length Polymorphism ◽  
Case Control ◽  
Hypertensive Disorders Of Pregnancy ◽  
Chain Reaction ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Control Study ◽  
Risk Of Preeclampsia

The abnormal production of matrix metalloproteinases (MMPs), especially MMP-9 and MMP-2, plays a pivotal role in hypertensive disorders of pregnancy, and as such, can influence the development of preeclampsia. These alterations may result from functional genetic polymorphisms in the promoter region of MMP-9 and MMP-2 genes, which modify MMP-9 and MMP-2 expression. We investigated the association of MMP-9 polymorphism rs3918242 (-1562 C>T) and MMP-2 polymorphism rs2285053 (-735 C>T) with the risk of preeclampsia. This case–control study was conducted on 345 women with preeclampsia and 281 age-matched women with normal pregnancies from Tunisian hospitals. Genomic DNA was extracted from whole blood collected at delivery. Genotypes for -1562 C>T and -735 C>T polymorphisms were performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). An increased frequency of heterozygous MMP-9 -1562 C/T genotype carriers was observed in women with preeclampsia compared to healthy controls (p = 0.03). In contrast, the MMP-2 -735 C>T polymorphism was not significantly different regarding frequency distribution of the allele and genotype between healthy pregnant women and women with preeclampsia. Our study suggests that the MMP-9 -1562 C/T variant, associated with high MMP-9 production, could be a genetic risk factor for preeclampsia in Tunisian women.

No association between ITGAV rs3738919 and rs3768777 polymorphisms and rheumatoid arthritis susceptibility in Iranian population

2016 ◽  
Vol 40 (6) ◽  
Author(s):  
Abbas-Ali Fallah ◽  
Saeid Morovvati ◽  
Kazem Ahmadi ◽  
Gholam Hossein Alishiri ◽  
Mahdi Fasihi-Ramandi
Keyword(s):  
Rheumatoid Arthritis ◽  
Fragment Length Polymorphism ◽  
Cartilage Damage ◽  
Chronic Inflammatory Disease ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Polymerase Chain ◽  
Genetic And Environmental Factors ◽  
Iranian Patients ◽  
Arthritis Susceptibility

AbstractBackground:Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by angiogenesis, cell proliferation and bone and cartilage damage in the affected joint. Many genetic and environmental factors contribute to RA susceptibility.Methods:Iranian patients with confirmed RA, aged over 50 years, were compared with healthy controls for allelic and genotypic frequencies of these polymorphisms. The subjects and controls were matched through their race, age and sex. After whole genome extraction, we compared genotype frequencies of analyzed alleles in RA patients and controls using a polymerase chain reaction (PCR)-restriction fragment length polymorphism assay. Association ofResults:Statistical analysis indicated no association between RA andConclusions:This study did not find any association between RA and

scholarly journals IL17A G197A and IL17F T7488C genotypes of IL-17 gene as biomarkers in keratoconus

2021 ◽  
Author(s):  
Isabela Bronchtein Gomes ◽  
Christiane Maria Ayo ◽  
Alessandro Garcia Lopes ◽  
Laurie Sayuri Kumano ◽  
Geraldo Magela de Faria Junior ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Risk Factor ◽  
Restriction Fragment Length Polymorphism ◽  
Fragment Length Polymorphism ◽  
Northwestern Part ◽  
Chain Reaction ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Restriction Fragment Length

Abstract Investigate possible correlations between genetic polymorphisms of IL17A G197A (rs2275913) and IL17F T7488C (rs763780) with the development of keratoconus (KC) in patients from a population of the northwestern part of the State of São Paulo. Were enrolled 35 patients and 61 controls. Genotyping of IL17A G197A and IL17F T7488C polymorphisms was carried out using the PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism) technique. The evaluation of IL17F T7488C SNP found that the TT genotype is associated as a risk factor for the development of KC (P = 0.04; OR = 2.97; CI = 1.09–8.33). As for the evaluation of IL17A G197A SNP, the allele and genotype frequencies between patients and controls were compared and no statistically significant differences were found. The TT genotype of IL17F T7488C SNP apparently contributes to the development of KC and the IL17A G197A SNP seemingly has no influence on the progression of the disease in the population of this study.

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