scholarly journals Association of Leu72Met Polymorphism of GHRL Gene and Gln223Arg of LEPR Gene With Hunger, Satiety, Biochemical, and Anthropometric Variables in Adults From Western Mexico

2021 ◽  
Vol 5 (Supplement_2) ◽  
pp. 1005-1005
Author(s):  
Tania Sánchez-Murguía ◽  
Nathaly Torres-Castillo ◽  
Wendy Campos-Pérez ◽  
Citlalic Rodríguez-Reyes ◽  
Lisset Magaña-de la Vega ◽  
...  
Keyword(s):  
Energy Content ◽  
Vital Signs ◽  
Food Allergies ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Glucose Levels ◽  
Western Mexico ◽  
Lepr Gene ◽  
Visual Analog Scales ◽  
Desire To Eat

Abstract Objectives To determine the association of Leu72Met single nucleotide polymorphism (SNP) of GHRL gene and Gln223Arg SNP of LEPR gene with hunger, satiety, biochemical, and anthropometric variables in adults from Western Mexico. Methods Quasi-experimental study design with 132 participants of which 109 were women. Inclusion criteria were age 18–25 years old, BMI 18.5–24.9 kg/m2, 10 hours of fasting, and have the habit of eating breakfast. Exclusion criteria were subjects with a diagnosed disease, vegetarians or vegans, use of drugs that alter appetite or for weight loss, food allergies, elite athletes. Subjects were summoned twice. In the first one, medical history and anthropometric measurements were realized. A week later vital signs were taken, and blood sampling was obtained in fasting and at 120′ post breakfast. Anthropometrics and biochemical measurements were done with the InBody 370 and Vitros 350 analyzer, respectively. SNP´s were analyzed using the TaqMan® allelic discrimination assay in a real-time PCR thermocycler. Five visual analog scales to assess hunger, fullness, satiety, desire to eat, and prospective consumption were applied in fasting, after breakfast, and at 30′, 60′, 90′, and 120′ post-ingestion. Breakfast had an energy content of 526.5 kcal (36% lipids, 43% carbohydrates, and 21% protein). All variables were analyzed among genotypes considering the dominant model. Data were analyzed in SPSS version 20.0. Normality distribution was assessed with the Shapiro-Wilk test. Student T-test was applied for related (intra) or independent (inter) groups, respectively. Results BMI of participants was 22.0 ± 2.0 kg/m2 with a mean age of 20.6 ± 2.0 years. At 60′ post-ingestion hunger was lower and at 120′ glucose levels were lower in Leu72Leu carriers than in Leu72Met/Met72Met carriers. In fasting, total cholesterol, LDL-c, triglycerides, and desire to eat were higher in subjects with Gln223Gln genotype than in Gln223Arg/Arg223Arg genotype carriers. Conclusions The GHRL SNP was associated with higher hunger and glucose in the postprandial state; contrary, the LEPR SNP was associated with lower lipids levels and less desire to eat in fasting. Genetic variants could be involved with hunger, satiety, and metabolism biomarkers. Funding Sources "PROINPEP” and “PRO-SNI” from University of Guadalajara.

scholarly journals Assessment of the myostatin Q204X allele using an allelic discrimination assay

2006 ◽  
Vol 29 (3) ◽  
pp. 496-497
Author(s):  
Ana M. Sifuentes-Rincón ◽  
Herlinda E. Puentes-Montiel ◽  
Víctor R. Moreno-Medina ◽  
Xóchitl F. de la Rosa-Reyna
Keyword(s):  
Allelic Discrimination Assay ◽  
Allelic Discrimination

scholarly journals Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase 1 Influenced the Age Onset of Parkinson’s Disease

2020 ◽  
Author(s):  
Nóra Török ◽  
Rita Maszlag-Török ◽  
Kinga Molnár ◽  
Zoltán Szolnoki ◽  
Ferenc Somogyvári ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Subgroup Analysis ◽  
Snp Analysis ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Indoleamine 2,3 Dioxygenase ◽  
Tryptophan Dioxygenase

Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson’s disease (PD). The first rate-limiting enzymes indoleamine 2,3-dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) have been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

Association between genetic variant rs2267716 of CRHR2 gene with colorectal cancer

2021 ◽  
pp. jim-2021-002047
Author(s):  
Angélica Araceli Ramírez-Guerrero ◽  
Christian Octavio González-Villaseñor ◽  
Evelia Leal-Ugarte ◽  
Melva Gutiérrez-Angulo ◽  
Mario Ramírez-Flores ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Angiogenesis Inhibitor ◽  
Cross Sectional Study ◽  
Control Group ◽  
Corticotropin Releasing Hormone ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Cross Sectional ◽  
Releasing Hormone ◽  
Significant Difference

Colorectal cancer (CRC) is the third most common cancer and one of the main causes of death around the world. Multiple lines of evidence have suggested the role of the corticotropin-releasing hormone (CRH) family in CRC induction, including the low expression of corticotropin-releasing hormone receptor 2 (CRHR2), which is an angiogenesis inhibitor and inflammatory modulator. Previous research suggests that CRHR2 expression in colonic intestinal cells can regulate migration, proliferation and apoptosis through the modulation of several pathways. The aim of this study was to analyze the association of the rs10250835, rs2267716 and rs2267717 variants of CRHR2 gene with CRC in the Mexican population in order to consider its predictive value in CRC. This cross-sectional study included a group of 187 unrelated patients with sporadic CRC and a control group of 191 healthy blood donors. DNA extraction from peripheral blood was carried out using the Miller method. Identification of the rs10250835 variant was performed using PCR-restriction fragment length polymorphism (RFLP) and the rs2267716 and rs2267717 variants using TaqMan allelic discrimination assay. The minor allele homozygous CC of the rs2267716 variant of CRHR2 showed significant difference between CRC and control group (p=0.025), as well as the GCA haplotype (p=0.007), corresponding to the rs10250835, rs2267716 and rs2267717 variants, respectively. Our results suggest that the rs2267716 variant and GCA haplotype of CRHR2 represent a risk factor for CRC development in Mexican patients.

Association of PNPLA3 I148M with liver disease biomarkers in Latinos

2021 ◽  
Author(s):  
Jonathan D. Roe ◽  
Luis A. Garcia ◽  
Yann C. Klimentidis ◽  
Dawn K. Coletta
Keyword(s):  
Liver Disease ◽  
Liver Fibrosis ◽  
Linear Regression ◽  
The United States ◽  
Genotype Distribution ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Nonalcoholic Fatty Liver ◽  
Disease Biomarkers ◽  
Nafld Fibrosis Score

Introduction. Liver disease accounts for approximately 2 million deaths per year worldwide. The majority of liver diseases are due to complications of cirrhosis, viral hepatitis, and hepatocellular carcinoma. Increased levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) may indicate liver disease. Moreover, there are additional noninvasive liver fibrosis indices that help to estimate liver damage, including AST to ALT ratio, AST to platelet ratio index (APRI), fibrosis-4 (FIB-4) score, and nonalcoholic fatty liver disease (NAFLD) fibrosis score. The aims of the present study were to (1) perform an association analysis of the patatin-like phospholipase domain containing 3 (PNPLA3) I148M (rs738409) variant with ALT, AST, and various liver fibrosis indices, and (2) determine whether there are gender related-differences in these associations. Methods. We obtained demographic, anthropometric, and metabolic phenotypes from Latino adult participants (n = 503, 64% female, 36.4 ± 0.5 years) from the Arizona Insulin Resistance (AIR) registry. SNP genotyping of I148M was performed using the TaqMan allelic discrimination assay. We used linear regression for the association analyses of the genotypes with ALT, AST, and the various liver fibrosis indices. We included genotype, age, body mass index (BMI), and alcohol status in the linear regression model. Results. The variant I148M was in Hardy-Weinberg equilibrium, with genotype distribution: non-risk CC = 118, heterozygous CG = 246, and risk GG = 139. The G allele was significantly associated with increased ALT and AST levels (p = 7.8 x 10-7 and p = 9.7 x 10-6, respectively). Moreover, we showed that the G allele was significantly associated with higher APRI (p = 3.7 x 10-7) and FIB-4 score (p = 4.1 x 10-3). When we analyzed the data by gender, we observed similar significant trends for ALT, AST, and APRI (all, p < 0.01). In females, the G allele was significantly associated with increased FIB-4 score (p = 6.9 x 10-3), which was not observed in the males (p > 0.05). There was no association of the I148M variant with AST/ALT ratio nor NAFLD risk score, whether analyzed in all adults or by gender. Discussion/Conclusion. Our findings provide additional evidence of an association of PNPLA3 I148M with several liver disease biomarkers in male and female Latinos residing in the Southwest of the United States.

scholarly journals Lack of association between miR-218 rs11134527 A>G and Kawasaki disease susceptibility

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Lei Pi ◽  
Lanyan Fu ◽  
Yufen Xu ◽  
Di Che ◽  
Qiulian Deng ◽  
...  
Keyword(s):  
Kawasaki Disease ◽  
Disease Susceptibility ◽  
Coronary Artery Lesions ◽  
Cancer Risks ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Taqman Allelic Discrimination Assay ◽  
Taqman Allelic Discrimination ◽  
Age Related ◽  
The Relationship

Kawasaki disease (KD) is a type of disease that includes the development of a fever that lasts at least 5 days and involves the clinical manifestation of multicellular vasculitis. KD has become one of the most common pediatric cardiovascular diseases. Previous studies have reported that miR-218 rs11134527 A>G is associated with susceptibility to various cancer risks. However, there is a lack of evidence regarding the relationship between this polymorphism and KD risk. The present study explored the correlation between the miR-218 rs11134527 A>G polymorphism and the risk of KD. We recruited 532 patients with KD and 623 controls to genotype the miR-218 rs11134527 A>G polymorphism with a TaqMan allelic discrimination assay. Our results illustrated that the miR-218 rs11134527 A>G polymorphism was not associated with KD risk. In an analysis stratified by age, sex, and coronary artery lesions, we found only that the risk of KD was significantly decreased for children older than 5 years (GG vs. AA/AG: adjusted OR = 0.26, 95% CI = 0.07–0.94, P=0.041). The present study demonstrated that the miR-218 rs1113452 A>G polymorphism may have an age-related relationship with KD susceptibility that has not previously been revealed.

scholarly journals ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Ricardo M. Cerda-Flores ◽  
Karen Paola Camarillo-Cárdenas ◽  
Gabriela Gutiérrez-Orozco ◽  
Mónica Patricia Villarreal-Vela ◽  
Raquel Garza-Guajardo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Mexican Women ◽  
Genotype Distribution ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Hardy Weinberg Equilibrium

Abstract Background Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it. Methods DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy–Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299. Results We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13–3.51, TT vs. GG; OR, 1.53; 95% CI 1.12–2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk. Conclusions Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.

Antibody-dependent cell-mediated cytotoxicity (ADCC) evolution under treatment by cetuximab and links with treatment outcome in colorectal cancer (CRC) patients.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 2600-2600
Author(s):  
Marco Carlo Merlano ◽  
Martino Monteverde ◽  
Giuliana Strola ◽  
Jerome Barriere ◽  
Marie-Christine Etienne-Grimaldi ◽  
...  
Keyword(s):  
Treatment Outcome ◽  
Gene Polymorphisms ◽  
Immune Cell ◽  
Ex Vivo ◽  
Cancer Cell Line ◽  
Target Cells ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Significant Drop ◽  
Patient Gender

2600 Background: ADCC plays a role in antitumor activity of IgG1 mAb by inducing immune cell-mediated lysis of tumor cells. We evaluated ADCC ability before and under cetuximab-based treatment and examined its impact on treatment outcome. Methods: 29 patients (17 men, 12 women, median age 72, range 51-84) with metastatic wild-type KRAS CRC treated with chemotherapy (irinotecan or Folfiri) plus cetuximab were prospectively enrolled. ADCC ex-vivo was measured before starting treatment and every 2 months during treatment (1 to 7 measurements/patient, 12 patients with >2 measurements). 400 000 purified Natural Killer cells (CD3- CD56+) from patients were incubated with 10 000 target cells (CAL166 cancer cell line expressing EGFR) and 10 µg/ml cetuximab (triplicates). Cytotoxicity was measured by the LDH-release assay. ADCC was expressed as the % of lyzed target cells. Gene polymorphisms of Fcγ receptors FCGR2a (131Arg>His) and FCGR3a (158Phe>Val) were analyzed (Allelic Discrimination assay). Results: The feasibility rate of ADCC measurement was 88%. ADCC basal values ranged between 30% and 100% (mean 62%, median 66%). Basal ADCC was not influenced by patient gender. A tendency for an increased ADCC basal value was observed in younger patients: median was 76% in the 6 patients ≤ 60 vs 56% in the 23 patients over 60 years-old (p = 0.031). FCGR2A and FCGR3A gene polymorphisms were not linked to basal ADCC. The evolution of individual ADCC ability before treatment and 2 months later revealed a significant drop in ADCC following treatment initiation (intra-patient comparison, n=18, p=0.006), with an absolute median drop of 19%. This decrease was not sustained over time and intra-patient comparison between basal value and 4-month measurement was not significant. 25 patients were assessable for survival (11 deaths). Basal ADCC values were not related to survival. Conclusions: A new generation of mAb is currently being developed with the aim to amplify ADCC. Present data illustrate the feasibility of ADCC measurement in mAb-treated patients and reveal an initial drop in ADCC under treatment that may reflect the variable chemotherapy-induced impact on host immunity.

scholarly journals COLD-PCR and Innovative Microarray Substrates for Detecting and Genotyping MPL Exon 10 W515 Substitutions

2012 ◽  
Vol 58 (12) ◽  
pp. 1692-1702 ◽  
Author(s):  
Angela Brisci ◽  
Francesco Damin ◽  
Daniela Pietra ◽  
Silvia Galbiati ◽  
Sabrina Boggi ◽  
...  
Keyword(s):  
Myeloproliferative Neoplasms ◽  
Direct Sequencing ◽  
Leukemia Virus ◽  
Primary Myelofibrosis ◽  
Analytical Sensitivity ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Analytical Sensitivities ◽  
Exon 10

BACKGROUND Myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Somatic mutations in exon 10 of the MPL (myeloproliferative leukemia virus oncogene) gene, mainly substitutions encoding W515 variants, have recently been described in a minority of patients with ET or PMF. We optimized analytically sensitive methods for detecting and genotyping MPL variants. METHODS We used DNA previously isolated from circulating granulocytes of 60 patients with MPN that had previously been analyzed by high-resolution melting (HRM), direct sequencing, and the TaqMan allelic-discrimination assay. We developed conditions for enriching tumor mutant alleles with COLD-PCR (coamplification at lower denaturation temperature PCR) and coupled it with direct sequencing. Assays were designed for identifying MPL W515 substitutions with full COLD-PCR protocols. In parallel, we used innovative microarray substrates to develop assays for evaluating the mutant burden in granulocyte cells. RESULTS Mutations that were present at very low levels in patients who had previously been scored as having an MPL variant by HRM and as wild type by direct sequencing were successfully identified in granulocyte DNA. Notably, the microarray approach displayed analytical sensitivities of 0.1% to 5% mutant allele, depending on the particular mutation. This analytical sensitivity is similar to that obtained with COLD-PCR. The assay requires no enrichment strategy and allows both the characterization of each variant allele and the evaluation of its proportion in every patient. CONCLUSIONS These procedures, which are transferable to clinical diagnostic laboratories, can be used for detecting very low proportions of minority mutant alleles that cannot be identified by other, conventional methods.

Automated Detection of Prevalent Mutations inBRCA1andBRCA2Genes, Using a Fluorogenic PCR Allelic Discrimination Assay

1997 ◽  
Vol 1 (3) ◽  
pp. 171-180 ◽  
Author(s):  
MOHAMMAD R. ABBASZADEGAN ◽  
JEFFERY P. STRUEWING ◽  
KEVIN M. BROWN ◽  
JIM V. SNIDER ◽  
FREDRICO GOODSAID ◽  
...  
Keyword(s):  
Automated Detection ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination

scholarly journals CD40Gene Polymorphisms Associated with Susceptibility and Coronary Artery Lesions of Kawasaki Disease in the Taiwanese Population

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Ho-Chang Kuo ◽  
Mei-Chyn Chao ◽  
Yu-Wen Hsu ◽  
Ying-Chi Lin ◽  
Ying-Hsien Huang ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Kawasaki Disease ◽  
Systemic Vasculitis ◽  
Recessive Model ◽  
Unknown Etiology ◽  
Nucleotide Polymorphisms ◽  
Taiwanese Population ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
First Time

Background. Kawasaki disease (KD) is characterized by systemic vasculitis of unknown etiology. Our previous studies showed expression ofCD40ligand on CD4+ T cells correlated to the coronary artery lesion (CAL) and disease progress in KD. Other studies from Japan suggested the role ofCD40Lin the pathogenesis of CAL, and this might help explain the excessive number of males affected with KD but cannot be reproduced by Taiwanese population. This study was conducted to investigate theCD40polymorphism in KD and CAL formation.Methods. A total of 950 subjects (381 KD patients and 569 controls) were investigated to identify 2 tagging single-nucleotide polymorphisms (tSNPs) ofCD40(rs4810485 and rs1535045) by using the TaqMan allelic discrimination assay.Results. A significant association was noted with regards toCD40tSNPs (rs1535045) between controls and KD patients (P=0.0405, dominant model). In KD patients, polymorphisms ofCD40(rs4810485) showed significant association with CAL formation (P=0.0436, recessive model). Haplotype analysis did not yield more significant results between polymorphisms ofCD40and susceptibility/disease activity of KD.Conclusions. This study showed for the first time that polymorphisms ofCD40are associated with susceptibility to KD and CAL formation, in the Taiwanese population.

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