scholarly journals Sequence analysis and variant identification at the APOC3 gene locus indicates association of rs5218 with BMI in a sample of Kuwaiti’s

2019 ◽  
Vol 18 (1) ◽  
Author(s):  
Zainab H. Malalla ◽  
Ahmad E. Al-Serri ◽  
Huda M. AlAskar ◽  
Wafaa Y. Al-Kandari ◽  
Suzanne A. Al-Bustan
Keyword(s):  
Sequence Analysis ◽  
Genetic Model ◽  
The Novel ◽  
Lipid Levels ◽  
Intron 1 ◽  
Sequence Variations ◽  
Increased Risk ◽  
Apoc3 Gene ◽  
Dominant Genetic Model ◽  
Novel Variant

Abstract Background APOC3 is important in lipid transport and metabolism with limited studies reporting genetic sequence variations in specific ethnic groups. The present study aimed to analyze the full APOC3 sequence among Kuwaiti Arabs and test the association of selected variants with lipid levels and BMI. Methods Variants were identified by Sanger sequencing the entire APOC3 gene in 100 Kuwaiti Arabs. Variants and their genotypes were fully characterized and used to construct haplotype blocks. Four variants (rs5128, rs2854117, rs2070668, KUAPOC3N3 g.5196 A > G) were selected for testing association with serum lipid levels and BMI in a cohort (n = 733). Results APOC3 sequence (4.3 kb) of a Kuwaiti Arab was deposited in Genbank (accession number KJ437193). Forty-two variants including 3 novels were identified including an “A” insertion at genomic positions 116,700,599–116,700,600 (promoter region) and two substitutions in intron 1 at genomic positions 116,700,819 and 116,701,159. Only three variants, (rs5128, rs2854117, and rs2070668) were analyzed for association of which rs5128 showed a trend for association with increased BMI, TG and VLDL levels that was further investigated using multivariate analysis. A significant association of rs5128 with BMI (p <  0.05) was observed following a dominant genetic model with increased risk by an OR of 4.022 (CI: 1.13–14.30). Conclusion The present study is the first to report sequence analysis of APOC3 in an Arab ethnic group. This study supports the inclusion of rs5128 as a marker for assessing genetic risk to dyslipidemia and obesity and the inclusion of the novel variant g.5196 A > G for population stratification of Arabs.

scholarly journals Circadian Gene Polymorphisms Associated with Breast Cancer Susceptibility

2019 ◽  
Vol 20 (22) ◽  
pp. 5704
Author(s):  
Monika Lesicka ◽  
Ewa Jabłońska ◽  
Edyta Wieczorek ◽  
Beata Pepłońska ◽  
Jolanta Gromadzińska ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Genetic Model ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
High Resolution Melt ◽  
Circadian Genes ◽  
Increased Risk ◽  
Dominant Genetic Model ◽  
Variant Genotype

Breast cancer (BC) is a major problem for civilization, manifested by continuously increasing morbidity and mortality among women worldwide. Core circadian genes may play an important role in cancer development and progression. To evaluate the effects of single nucleotide polymorphism (SNP) in circadian genes in BC risk, 16 functional SNPs were genotyped in 321 BC patients and 364 healthy women using the TaqMan fluorescence-labelled probes or High-Resolution Melt Curve technique in the Real-Time PCR system. The selected SNPs were analyzed for the risk of BC, progression, and the influence on gene expression in BC tissue pairs to demonstrate the functionality of genetic variants. The study showed a relationship between an increased BC risk under the dominant genetic model of CRY2 rs10838524, PER2 rs934945, and recessive genetic model of PER1 rs2735611. A protective effect of BMAL1 rs2279287 was observed among carriers with at least one variant allele. Moreover, we found an increased risk of estrogen-/progesterone-positive tumors under the dominant genetic model of PER2 rs934945 and estrogen negative tumors under the variant genotype of CRY2 rs10838524, PER1 rs2735611. We demonstrated significantly altered gene expression of BMAL1, CRY2, PER1, PER2, PER3 according to particular genotypes in the BC tissue pairs. Our findings support the hypothesized role of circadian genes in breast carcinogenesis and indicate probable biomarkers for breast cancer susceptibility.

scholarly journals The association of polymorphisms in nucleotide excision repair genes with ovarian cancer susceptibility

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Zhiguang Zhao ◽  
Anqi Zhang ◽  
Yuan Zhao ◽  
Junmiao Xiang ◽  
Danyang Yu ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Nucleotide Excision Repair ◽  
Genetic Model ◽  
Cancer Susceptibility ◽  
Excision Repair ◽  
Large Sample Size ◽  
Nucleotide Polymorphisms ◽  
Increased Risk ◽  
Nucleotide Excision ◽  
Dominant Genetic Model

Nucleotide excision repair (NER), the core mechanism of DNA repair pathway, was commonly used to maintain genomic stability and prevent tumorigenesis. Previous investigations have demonstrated that single nucleotide polymorphisms (SNPs) of NER pathway genes were associated with various types of cancer. However, there was no research elucidating the genetic association of entire NER pathway with ovarian cancer susceptibility. Therefore, we conducted genotyping for 17 SNPs of six NER core genes (XPA, XPC, XPG, ERCC1, ERCC2, and ERCC4) in 89 ovarian cancer cases and 356 cancer-free controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to describe the strength of association. The result showed that both ERCC1 rs11615 and XPC rs2228000 were significantly associated with reduced risk of ovarian cancer under dominant genetic model (adjusted OR = 0.35, 95% CI = 0.20–0.61, P=0.0002 and adjusted OR = 0.49, 95% CI = 0.30–0.81, P=0.005 respectively). In addition, XPC rs2228001 and ERCC2 rs238406 had statistically significant association with the increased risk of ovarian cancer under dominant genetic model (adjusted OR = 1.72, 95% CI = 1.02–2.92, P=0.043 and adjusted OR = 2.07, 95% CI = 1.07–4.01, P=0.032 respectively). ERCC1 rs3212986 were related with the increased risk of ovarian cancer under recessive model (adjusted OR = 2.40, 95% CI = 1.30–4.44, P=0.005). In conclusion, our results indicated that ERCC1, XPC and ERCC2 might influence ovarian cancer susceptibility. Further research with large sample size is warranted to validate the reliability and accuracy of our results.

scholarly journals Associations of CTLA4 Gene Polymorphisms with Graves’ Ophthalmopathy: A Meta-Analysis

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Pengfei Du ◽  
Xiaojie Ma ◽  
Changjiang Wang
Keyword(s):  
Genetic Model ◽  
Meta Analysis ◽  
Case Control Studies ◽  
Graves Ophthalmopathy ◽  
Increased Risk ◽  
Exon 1 ◽  
Ctla4 Gene ◽  
Relationship Of ◽  
The Relationship ◽  
Susceptible Gene

Many studies have established that T-lymphocyte antigen-4 (CTLA4) is a susceptible gene for Graves’ disease (GD). Also many studies showed the association between the CTLA4 exon-1 49A/G polymorphism and the risk of developing Graves’ ophthalmopathy (GO) in GD patients. But those results were inconsistent. In recent years many new studies were published which helped to shed light on the relationship of CTLA4 SNP49 with GO. So we performed the meta-analysis to explore the association between the SNP49 and GO susceptibility in GD patients. Studies up to February 29, 2012, were searched by using PubMed. The odds ratio was used to evaluate the strength of the association. Altogether 12 case-control studies involving 2,505 participants were included in the meta-analysis. Results showed that the G allele was related to the increased risk of GO compared with the A allele under allelic genetic model (OR = 1.14, 95% CI: 1.14–1.72,P=0.001) in European subgroup. No publication bias was detected. Our results showed that the SNP49 polymorphism of CTLA4 gene was related to increased risk of GO.

Abstract P102: Variability In Lipid Levels And Risk For Cardiovascular Disease: An Electronic Health Record-based Population Cohort Study

Circulation ◽  
2021 ◽  
Vol 143 (Suppl_1) ◽  
Author(s):  
Sheila M Manemann ◽  
Suzette J Bielinski ◽  
Ethan D Moser ◽  
Jennifer L St. Sauver ◽  
Paul Y Takahashi ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Electronic Health Record ◽  
Total Cholesterol ◽  
Index Date ◽  
Density Lipoprotein ◽  
Lipoprotein Cholesterol ◽  
Health Record ◽  
Lipid Levels ◽  
Population Cohort ◽  
Increased Risk

Background: Larger within-patient variability of lipid levels has been associated with an increased risk of cardiovascular disease (CVD). However, measures of lipid variability are not currently used clinically. We investigated the feasibility of calculating lipid variability within a large electronic health record (EHR)-based population cohort and assessed associations with incident CVD. Methods: We identified all individuals ≥40 years of age who resided in Olmsted County, MN on 1/1/2006 (index date) without prior CVD. CVD was defined as myocardial infarction, coronary artery bypass graft surgery, percutaneous coronary intervention or stroke. Patients with ≥3 measurements of total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and/or triglycerides during the 5 years before the index date were retained in the analyses. Lipid variability was calculated using variability independent of the mean (VIM). Patients were followed through 9/30/2017 for incident CVD (including CVD death). Cox regression was used to investigate the association between quintiles of lipid VIMs and incident CVD. Results: We identified 18,642 individuals (mean age 60; 55% female) who were free of CVD at baseline and VIM calculated for at least one lipid measurement. After adjustment, those in the highest VIM quintiles of total cholesterol had a 25% increased risk of CVD (Q5 vs. Q1 HR: 1.25, 95% CI: 1.08-1.45; Table). We observed similar results for LDL-C (Q5 vs. Q1 HR: 1.20, 95% CI: 1.04-1.39) and HDL-C (Q5 vs. Q1 HR: 1.25, 95% CI: 1.09-1.43). There was no association between triglyceride variability quintiles and CVD risk. Conclusion: In a large EHR-based population cohort, high variability in total cholesterol, HDL-C and LDL-C was associated with an increased risk of CVD, independently of traditional risk factors, suggesting it may be a target for intervention. Lipid variability can be calculated in the EHR environment but more research is needed to determine its clinical utility.

SARS-COV-2 in type 2 diabetic patients: Possible roles of exercise training as a medicine

2021 ◽  
Vol 17 ◽  
Author(s):  
Mehdi Kushkestani ◽  
Mohsen Parvani ◽  
Yaser Kazemzadeh
Keyword(s):  
Moderate Intensity ◽  
Diabetic Patients ◽  
The Novel ◽  
Compensatory Mechanisms ◽  
Moderate Intensity Exercise ◽  
Type 2 Diabetic Patients ◽  
Type 2 Diabetics ◽  
Increased Risk ◽  
Complications Rate

: SARS-COV-2 is the novel type of beta coronavirus that was first seen in December 2019 in Wuhan, China. Type 2 Diabetics are one of the groups most vulnerable to SARS-COV-2 and its associated complications. Many factors such as medication, pathophysiologic-induced compensatory mechanisms, and alterations in protein expression and immune system function can all contribute to severe outcomes in diabetics. In this review article, we first described the possible mechanisms of increased risk and more severe complications rate of SARS-COV-2 in diabetic patients. Secondly, we discussed the crucial roles of exercise in diabetic patients and in balancing of RAS system (ACE2/ACE). Finally, we showed the possible roles of acute and chronic exercise in reducing SARS-COV-2 severe outcomes in diabetics in accordance with the latest evidence. We concluded that regular exercise (especially moderate-intensity exercise) can play immune enhancing, anti-inflammatory, anti-oxidation roles and can balance ACE2/ACE ratio (decreasing ANG2 levels) in diabetic subjects.

Mitochondrial Cytochrome b DNA Sequence Variations: An Approach to Fish Species Identification in Processed Fish Products

2005 ◽  
Vol 68 (2) ◽  
pp. 421-425 ◽  
Author(s):  
TIZIANA PEPE ◽  
MICHELE TROTTA ◽  
ISOLINA DI MARCO ◽  
PAOLA CENNAMO ◽  
ANIELLO ANASTASIO ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Cytochrome B ◽  
Fish Species ◽  
Mitochondrial Cytochrome ◽  
Fish Products ◽  
Community Regulation ◽  
Sequence Variations ◽  
Fish Species Identification ◽  
Mitochondrial Cytochrome B ◽  
Pcr Products

The identification of fish species in food products is problematic because morphological features of the fish are partially or completely lost during processing. It is important to determine fish origin because of the increasing international seafood trade and because European Community Regulation 104/2000 requires that the products be labeled correctly. Sequence analysis of PCR products from a conserved region of the cytochrome b gene was used to identity fish species belonging to the families Gadidae and Merluccidae in 18 different processed fish products. This method allowed the identification of fish species in all samples. Fish in all of the examined products belonged to these two families, with the exception of one sample of smoked baccalà (salt cod), which was not included in the Gadidae cluster.

scholarly journals A novel multi-word paradigm for investigating semantic context effects in language production

2019 ◽  
Author(s):  
Cornelia van Scherpenberg ◽  
Rasha Abdel Rahman ◽  
Hellmuth Obrig
Keyword(s):  
Eye Tracking ◽  
Picture Naming ◽  
Language Production ◽  
Context Effects ◽  
Semantic Context ◽  
The Novel ◽  
Target Picture ◽  
Novel Variant ◽  
Lexical Interference ◽  
Respective Category

Semantic context modulates precision and speed of language production. Using different experimental designs including the Picture-Word-Interference (PWI) paradigm, it has consistently been shown that categorically related distractor words (e.g., cat) inhibit retrieval of the target picture name (dog). Here we introduce a novel variant of the PWI paradigm in which we present 8 words prior to a to be named target picture. Within this set, the number of words categorically related was varied between 3 and 5, and the picture to be named was either related or unrelated to the respective category. To disentangle interacting effects of semantic context we combined different naming paradigms manipulating the number of competitors, and assessing the effect of repeated naming instances. Evaluating processing of the cohort by eye-tracking provided us with a metric of the (implicit) recognition of the semantic cohort. Results replicate the interference effect in that overall naming of pictures categorically related to the distractor set was slower compared to unrelated pictures. However, interference did not increase with increasing number of distractors. Tracking this effect across naming repetitions, we found that interference is prominent at the first naming instance of every picture only, whereby it is stable across distractor conditions, but dissipates across the experiment. Regarding eye-tracking our data show that participants fixated longer on semantically related items, indicating the identification of the lexico-semantic cohort. Our findings confirm the validity of the novel paradigm and indicate that besides interference during first exposure, repeated exposure to the semantic context may facilitate picture naming and counteract lexical interference.

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