scholarly journals CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

Nutrients ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 998
Author(s):  
Maria Latacz ◽  
Jadwiga Snarska ◽  
Elżbieta Kostyra ◽  
Konrad Wroński ◽  
Ewa Fiedorowicz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Fragment Length Polymorphism ◽  
Intestinal Cells ◽  
Chain Reaction ◽  
The Third ◽  
Pcr Rflp ◽  
Study Population ◽  
Polymerase Chain ◽  
Peripheral Leukocytes

Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression sites and, as a consequence, they are capable of converting pro-vitamin D into the active paracrine and autocrine forms. It was demonstrated that rs10877012 polymorphism in the CYP27B1 gene influenced the circulating vitamin D level. This provided a rationale for determining the role that this polymorphism plays in the risk of developing colon cancer. In this study, we investigated the association of rs10877012 (T/G) polymorphism in the CYP27B1 gene with CRC susceptibility. The study population (n = 325) included CRC patients (n = 106) and healthy controls (n = 219). DNA was extracted from peripheral leukocytes and analyzed for the CYP27B1 polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We found an association between the presence of the T allele at the polymorphic site (odds ratio (OR) = 2.94; 95% CI 1.77–4.86; p < 0.0001) and a decreased CRC incidence.

scholarly journals MDR1 polymorphisms are not related to Xeliri and Xelox chemoresistance in colorectal cancer

2019 ◽  
Author(s):  
Ayat B. Al-Ghafari ◽  
Areej M. Alqahtani ◽  
Suzan N. Alturki ◽  
Huda Abdulaziz Al Doghaither ◽  
Hanaa M. Tashkandi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Drug Response ◽  
Fragment Length Polymorphism ◽  
Protective Role ◽  
Genotype Distribution ◽  
Chain Reaction ◽  
P Glycoprotein ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Polymerase Chain

Abstract Background Multidrug resistance member 1 (MDR1) is located on chromosome 7 and encodes P-glycoprotein (Pgp), which is universally accepted as a drug resistance biomarker. MDR1 polymorphisms may change either the protein expression or function, suggesting its possible association with cancers, including colorectal cancer (CRC). Thus, this study aimed to determine the effects of MDR1 polymorphisms on the drug response of Saudi CRC patients.Methods DNA samples were obtained from 62 CRC patients and 100 healthy controls. The genotypes and allele frequencies of the MDR1 polymorphisms G2677T and T1236C were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP).Results No significant difference was observed in the genotype distribution and allele frequency of T1236C between the CRC the patients and the controls. However, G2677T was found to play a highly significant protective role against the progression of CRC. Moreover, the results showed that none of the genotypes in SNPs T1236C and G2677T affected chemoresistance to Xeliri and Xelox.Conclusions T1236C in the MDR1 gene is not related to CRC risk, and G2677T protects against the development of CRC. Both MDR1 polymorphisms are not associated with the risk of chemoresistance.

scholarly journals The Relationship Between the PPARδ-87T>C Polymorphism and Colorectal Cancer Risk in a Chinese Han Population

2020 ◽  
Author(s):  
ZongGuang Zhou ◽  
Bo Dong ◽  
Lie Yang ◽  
Bin Zhou ◽  
Dan Zhang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Fragment Length Polymorphism ◽  
Clinicopathological Parameters ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Han Population ◽  
Pcr Rflp ◽  
Polymerase Chain

Abstract BackgroundPeroxisome proliferator-activated receptor-β/δ (PPARβ/δ) is a transcription factor that has the potential to be associated with the development of colorectal cancer (CRC). However, the exact role of PPARδ in the context of CRC development remains to be clarified. This present study was thus designed to understand the association between CRC risk and the PPARδ-87T>C single nucleotide polymorphism (SNP) in a western Chinese Han population. MethodsThe PPARδ-87T>C (rs2016520) polymorphism was analyzed via the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) approach in 410 CRC patients and 496 frequency-matched healthy controls via a case-control study design. Relationships between PPARδ-87T>C polymorphisms and clinicopathological parameters were assessed using Pearson chi-squared tests or Fisher's exact test, Odds ratios (ORs) and 95% confidence intervals (CIs) were used to evaluate the association between the PPARδ-87T>C SNP and CRC risk. ResultsWe observed significant differences in genotypic frequencies when comparing CRC patients (TT 62%, TC 32%, and CC 6.1%) and controls (TT 65.5%, TC 32,3%, and CC 22%). In addition, PPARδ-87T>C genotype was associated with tumor differentiation (P=0.033), but was unrelated to clinicopathological parameters in CRC patients. An unconditioned logistic regression model analysis revealed that individuals harboring the homozygous CC genotype exhibited an elevated CRC risk relative to those harboring the TT genotype (OR=2.931,95% CI =1.41- 6.08; P=0.004).ConclusionsOur findings indicate that the homozygous PPARδ-87T>C CC genotype is associated with an elevated CRC risk as compared to the homozygous TT genotype, indicating that PPARδ-87T>C polymorphisms have the potential to serve as a marker for CRC risk. Keywords PPARδ, Colorectal cancer (CRC), Single nucleotide polymorphism (SNP), Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)

scholarly journals Associations of biochemical changes and maternal traits with mutation 1843 (C>T) in the RYR1 gene as a common cause for porcine stress syndrome

2016 ◽  
Vol 19 (2) ◽  
pp. 75-80 ◽  
Author(s):  
ZT Popovski ◽  
B Tanaskovska ◽  
E Miskoska-Milevska ◽  
S Andonov ◽  
S Domazetovska
Keyword(s):  
Fragment Length Polymorphism ◽  
Protein Product ◽  
Biochemical Changes ◽  
Chain Reaction ◽  
Maternal Characteristics ◽  
Stress Syndrome ◽  
Pcr Rflp ◽  
Porcine Stress Syndrome ◽  
Heterozygous Carriers ◽  
Polymerase Chain

AbstractStress syndrome is usually caused by a mutation in theryanodine receptorgene(ryr1) and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the humanryr1gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg→Cys mutation reported in all cases of porcine stress syndrome (PSS). Porcine stress syndrome affects biochemical pathways in stress-susceptible individuals during a stress episode and some biochemical parameters that were used as markers for diagnostic purposes. Also, PSS has remarkable influence on the maternal characteristics of sows. This study dealt with different genotypes for PSS and its association with possible biochemical changes and maternal traits of sows. Seventy-three reproductive sows genotyped for PSS by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were included in this survey. Sixty of them were stress-free (NN), 11 were heterozygous carriers (Nn) and two animals were homozygous (nn) for the 1843 (C>T) mutation. Significant differences in non stress induced animals with different PSS genotypes were found in the values of creatine phoshokinase (CPK), lactate dehydrogenase (LDH), alkaline phosphatase (AP) and aspartate aminotransferase (AST). Regarding the maternal traits, our study showed that stress susceptible animals (nn) have an increased number of stillborn piglets and a reduced number of newborn piglets compared with heterozygous and normal animals.

scholarly journals Identifikasi Keragaman Gen DGAT1 serta Asosiasinya terhadap Karakteristik Karkas dan Sifat Perlemakan Domba

2019 ◽  
Vol 6 (2) ◽  
pp. 259
Author(s):  
Asep Gunawan ◽  
Ratna Sholatia Harahap ◽  
Kasita Listyarini ◽  
Cece Sumantri
Keyword(s):  
Polymerase Chain Reaction ◽  
Single Nucleotide Polymorphism ◽  
Fragment Length Polymorphism ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Dgat1 Gene ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Restriction Fragment Length

ABSTRAK Karakteristik karkas dan sifat perlemakan pada daging domba dikontrol oleh banyak gen salah satunya gen DGAT1 (Diacylglycerol Acyltransferasel 1). Penelitian ini bertujuan mengidentifikasi SNP (Single Nucleotide Polymorphism) gen DGAT1 pada titik mutasi g.8539 C>T dan asosiasinya terhadap karakteristik karkas dan sifat perlemakan pada domba Indonesia. Total sampel domba yang digunakan sebanyak 150 buah terdiri dari 35 sampel domba compass agrinak (DCA), 36 sampel domba barbados cross (DBC), 41 sampel domba komposit garut (DKG), 20 sampel domba ekor gemuk (DEG), dan 18 sampel domba ekor tipis (DET). Karakteristik karkas dan sifat perlemakan diukur dari domba jantan berumur 10-12 bulan. Identifikasi keragaman DGAT1|ALuI dianalisis dengan metode PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism). Hasil keragaman gen DGAT1 bersifat polimorfik dalam DET dan DEG, sedangkan DCA, DBC, dan DKG bersifat monomorfik. Dua genotipe disebut CC dan  CT ditemukan dalam DET dan DEG. Titik mutasi gen DGAT1 berasosiasi (P<0.05) dengan karakteristik karkas, yaitu bobot dan panjang karkas. Selain itu, keragaman gen DGAT1 juga berasosiasi signifikan (P<0.05) dengan asam lemak jenuh, yaitu asam stearat (C18:0) dan asam arakidat (C20:0) dan asam lemak tak jenuh tunggal, yaitu asam oleat (C18:1n9c). Gen DGAT1 memiliki kontribusi dalam karakteristik karkas dan komposisi asam lemak pada domba.Kata Kunci: domba, gen DGAT1, karakteristik karkas, PCR-RFLP, sifat perlemakan                                                              ABSTRACT            Characteristic of carcass and fatness traits of sheep is regulated by many genes such as DGAT1 (Diacylglycerol Acyltransferasel 1) gene. The research was aimed to investigate SNP (Single Nucleotide Polymorphism) of DGAT1 and its association with characteristic of carcass and fatness traits in Indonesian sheep. A total sample of sheeps used 150 rams of 10–12 months consisted 35 samples of compas agrinak sheep (CAS), 36 of barbados cross (BCS), 41 of garut composite (GCS), 20  of javanese fat tailed (JFT), and 18 of javanese thin tailed (JTT). Identification variant of DGAT1|ALuI were performed by PCR-RFLP (Polymerase Chain Reaction-Restriction Fragment Length Polymorphism). The results of polymorphism of DGAT1 were found in JTT and JFT. However, SNP of DGAT1 in CAS, BCS and GCS were monomorfic. Two genotype namely CC and CT were found in JTT and JFT populations. A SNP of the DGAT1 was associated (P<0.05) with characteristic of carcass, including weight and length of carcass. The variant of DGAT1 was associated too with saturated fatty acids (SFA) including stearic acid (C18:0) and arachidic acid (C20:0), and mono unsaturated fatty acid (MUFA) including oleic acid (C18:1n9c). The DGAT1 gene was contribute to characteristic carcass and fatty acid composition in sheep.Keywords: DGAT1 gene, characteristic carcass, fatness traits, PCR-RFLP, sheep

scholarly journals Chilean Salmon Sushi: Genetics Reveals Product Mislabeling and a Lack of Reliable Information at the Point of Sale

Foods ◽  
2020 ◽  
Vol 9 (11) ◽  
pp. 1699
Author(s):  
Valentina Prida ◽  
Maritza Sepúlveda ◽  
Claudio Quezada-Romegialli ◽  
Chris Harrod ◽  
Daniel Gomez-Uchida ◽  
...  
Keyword(s):  
Chinook Salmon ◽  
Food Production ◽  
Fragment Length Polymorphism ◽  
Coho Salmon ◽  
Chain Reaction ◽  
Production Chain ◽  
Point Of Sale ◽  
Pcr Rflp ◽  
Seafood Products ◽  
Polymerase Chain

Species diagnosis is essential to assess the level of mislabeling or misnamed seafood products such as sushi. In Chile, sushi typically includes salmon as the main ingredient, but species used are rarely declared on the menu. In order to identify which species are included in the Chilean sushi market, we analyzed 84 individual sushi rolls sold as “salmon” from sushi outlets in ten cities across Chile. Using a polymerase chain reaction-restriction fragment length polymorphism protocol (PCR-RFLP), we identified mislabeled and misnamed products. Atlantic salmon was the most common salmonid fish used in sushi, followed by coho salmon, rainbow trout, and Chinook salmon. We found a total of 23% and 18% of the products were mislabeled and misnamed, respectively. In 64% of cases, the salesperson selling the product could not identify the species. We also identified the use of wild-captured Chinook salmon samples from a naturalized population. Our results provide a first indication regarding species composition in Chilean sushi, a quantification of mislabeling and the level of misinformation declared by sales people to consumers. Finally, considering that Chinook salmon likely originates from a non-licensed origin and that sushi is an uncooked product, proper identification in the food production chain may have important consequences for the health of consumers.

scholarly journals Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Muzaffer Ilhan ◽  
Bahar Toptas-Hekimoglu ◽  
Ilhan Yaylim ◽  
Seda Turgut ◽  
Saime Turan ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Vdr Polymorphism ◽  
Structural Alterations ◽  
Increased Risk ◽  
Significant Difference ◽  
Polymerase Chain ◽  
Vdr Polymorphisms

Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly.Design, Patients, and Methods. 52 acromegaly patients (mean age45.7±1.9years) and 83 controls (mean age43.1±2.6years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods.Results. The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P=0.034). VDR FokI ff genotype was significantly decreased in acromegaly patients (P=0.035) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1;P=0.020). IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P=0.0049). 25(OH)D3 levels were significantly lower in acromegaly patients (P<0.001).Conclusions. Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.

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.

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