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 ◽  
...  

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)

2019 ◽  
Vol 6 (2) ◽  
pp. 259
Author(s):  
Asep Gunawan ◽  
Ratna Sholatia Harahap ◽  
Kasita Listyarini ◽  
Cece Sumantri

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


2017 ◽  
Vol 89 (5) ◽  
pp. 1-5 ◽  
Author(s):  
Anna Walczak ◽  
Karolina Przybyłowska-Sygut ◽  
Andrzej Sygut ◽  
Adrianna Cieślak ◽  
Michał Mik ◽  
...  

The aim of the study: We evaluated the connection between the presence of the -2518 A/G MCP-1 as well as 190 G/A CCR2 polymorphic variants and colorectal cancer (CRC) occurrence. Material and methods: Study group consisted of subjects with different stages of CRC as well as healthy controls. Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: W observed an association between the colorectal cancer and the GG genotype of the -2518 A/G MCP-1 single nucleotide polymorphism. No statistically significant correlation was found between CRC and the 190 G/A CCR2 polymorphism. Conclusion: The results of this study support the hypothesis that polymorphism in the MCP-1 gene may contribute to the etiology of colorectal cancer.


Nutrients ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 998
Author(s):  
Maria Latacz ◽  
Jadwiga Snarska ◽  
Elżbieta Kostyra ◽  
Konrad Wroński ◽  
Ewa Fiedorowicz ◽  
...  

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.


2019 ◽  
Author(s):  
Ayat B. Al-Ghafari ◽  
Areej M. Alqahtani ◽  
Suzan N. Alturki ◽  
Huda Abdulaziz Al Doghaither ◽  
Hanaa M. Tashkandi ◽  
...  

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.


2011 ◽  
Vol 59 (2) ◽  
pp. 269-277 ◽  
Author(s):  
Károly Tempfli ◽  
Gergely Farkas ◽  
Zsolt Simon ◽  
Ágnes Bali Papp

The aim of this study was to detect different alleles of the prolactin receptor (PRLR) gene and to examine their effects on the litter size of the indigenous Hungarian pig, the Mangalica. G1789A single nucleotide polymorphism (SNP) was investigated as a candidate for litter size. Samples from 80 purebred Mangalica sows and data of their 335 litters were provided by Olmos & Tóth Ltd. Hair follicles were used to isolate the required DNA. Allelic discrimination was performed by means of the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method using the AluI restriction enzyme and agarose gel electrophoresis. In the population examined, the A allele was found to be preferable in the Mangalica breed group. The most advantageous AA genotype was the least prevalent (8.75%), while the frequencies of AB and BB were 40% and 51.25%, respectively. Remarkably, the average number of piglets born alive per litter was 1.11 ± 0.39 higher in sows with AA as compared to those with BB genotype. By raising the frequency of the AA genotype, the litter size is likely to increase. However, the effect of PRLR genotypes can differ among pig breeds and even lines. Further studies may be required to observe and estimate possible pleiotropic effects of this polymorphism on other traits.


2020 ◽  
Vol 19 (2) ◽  
pp. 237-246

This study aimed to verify the polymorphisms in the porcine IL-6 gene and to elucidate its effects on litter size traits in Large White and Landrace sows. Four single nucleotide polymorphisms (SNPs) of the porcine IL-6 gene (g.91506415A>G, g.91507983A>G, g.91508173C>T, and g.91508716C>T) were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. There was no polymorphism observed on the three SNPs (g.91506415A>G, g.91507983A>G, and g.91508716C>T) of the porcine IL-6 gene. The porcine IL-6 g.91508173C>T polymorphism was found to be segregating in Large White and Landrace sows. The porcine IL-6 g.91508173C>T polymorphism was significantly associated with the total number born (TNB) and the number of piglets weaned alive (NWA) traits in Large White sows (P<0.05). Moreover, the porcine IL-6 g.91508173C>T polymorphism was significantly associated with the TNB, number born alive (NBA), and NWA traits in Landrace sows (P<0.05). These results indicated that the porcine IL-6 g.91508173C>T polymorphism was associated with litter size traits. These findings confirmed the importance of the IL-6 gene as a candidate gene for litter size traits in pigs.


2021 ◽  
Vol 9 (10) ◽  
pp. 337-348
Author(s):  
Eman Saber Elhennawy ◽  
Abeer Mesbah Abd-El Hamid ◽  
Tharwat Saad Kandil ◽  
Mohammed Mohammed El-Sayed El-Arman ◽  
Rasha Elzehery

Introduction: Early detection of colorectal cancer (CRC) is the key to reduce its related morbidity and mortality. Methods: One hundred CRC patients were included in this study, they were admitted at Mansoura Gastroenterology Center, Mansoura University and diagnosis was confirmed by pathology.100 apparently healthy individuals were served as the control group.CD24 (P170 C/T) and CD24 (P-534 A/C) single nucleotide polymorphisms (SNPs) were analyzed using polymerase chain reaction–restriction fragment length polymorphism (PCR/RFLP). Results: Regarding CD24 P170 C/T SNP, no statistically significant association was found between genotypes, alleles and risk of CRC. While, P-534 A/C; AC, CC, AC+CC genotypes and C allele showed significantly higher frequency in cases when compared to controls. CC and TC haplotypes were significantly associated with risk of CRC when compared to control group. Multivariate logistic regression analysis revealed that higher CEA and P-534 A/C (AC+CC) were considered as independent predictors of higher CRC stages. Conclusion: The current study observed an association between CD24 P-543 A/C SNP and the risk of developing CRC in Egyptian subjects.


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