scholarly journals Common genetic variants in GAL , GAP 43 and NRSN 1 and interaction networks confer susceptibility to Hirschsprung disease

2018 ◽  
Vol 22 (7) ◽  
pp. 3377-3387 ◽  
Author(s):  
Yang Wang ◽  
Weihui Yan ◽  
Jun Wang ◽  
Ying Zhou ◽  
Jie Chen ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Hirschsprung Disease ◽  
Interaction Networks ◽  
Common Genetic Variants

scholarly journals Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease

Aging ◽  
2020 ◽  
Vol 12 (5) ◽  
pp. 4379-4393 ◽  
Author(s):  
Yang Wang ◽  
Qian Jiang ◽  
Hao Cai ◽  
Ze Xu ◽  
Wenjie Wu ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Hirschsprung Disease ◽  
Interaction Networks ◽  
Relevant Interaction

Genetic Variation: Impact on Folate (and Choline) Bioefficacy

2010 ◽  
Vol 80 (45) ◽  
pp. 319-329 ◽  
Author(s):  
Allyson A. West ◽  
Marie A. Caudill
Keyword(s):  
Carbon Metabolism ◽  
Genetic Variants ◽  
Plasma Homocysteine ◽  
Water Soluble ◽  
Gene Interactions ◽  
Dietary Folate ◽  
Methyl Donors ◽  
Common Genetic Variants ◽  
One Carbon Metabolism ◽  
The Impact

Folate and choline are water-soluble micronutrients that serve as methyl donors in the conversion of homocysteine to methionine. Inadequacy of these nutrients can disturb one-carbon metabolism as evidenced by alterations in circulating folate and/or plasma homocysteine. Among common genetic variants that reside in genes regulating folate absorptive and metabolic processes, homozygosity for the MTHFR 677C > T variant has consistently been shown to have robust effects on status markers. This paper will review the impact of genetic variants in folate-metabolizing genes on folate and choline bioefficacy. Nutrient-gene and gene-gene interactions will be considered along with the need to account for these genetic variants when updating dietary folate and choline recommendations.

scholarly journals Common genetic variants and pathways in diabetes and associated complications and vulnerability of populations with different ethnic origins

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sabrina Samad Shoily ◽  
Tamim Ahsan ◽  
Kaniz Fatema ◽  
Abu Ashfaqur Sajib
Keyword(s):  
Diabetes Mellitus ◽  
Chronic Kidney Disease ◽  
Genetic Variants ◽  
Nucleotide Polymorphisms ◽  
Differential Distribution ◽  
East Asians ◽  
Single Nucleotide ◽  
Common Genetic Variants ◽  
Haplotype Frequencies ◽  
Variant Alleles

AbstractDiabetes mellitus is a complex and heterogeneous metabolic disorder which is often pre- or post-existent with complications such as cardiovascular disease, hypertension, inflammation, chronic kidney disease, diabetic retino- and nephropathies. However, the frequencies of these co-morbidities vary among individuals and across populations. It is, therefore, not unlikely that certain genetic variants might commonly contribute to these conditions. Here, we identified four single nucleotide polymorphisms (rs5186, rs1800795, rs1799983 and rs1800629 in AGTR1, IL6, NOS3 and TNFA genes, respectively) to be commonly associated with each of these conditions. We explored their possible interplay in diabetes and associated complications. The variant allele and haplotype frequencies at these polymorphic loci vary among different super-populations (African, European, admixed Americans, South and East Asians). The variant alleles are particularly highly prevalent in different European and admixed American populations. Differential distribution of these variants in different ethnic groups suggests that certain drugs might be more effective in selective populations rather than all. Therefore, population specific genetic architectures should be considered before considering a drug for these conditions.

scholarly journals Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

2021 ◽  
Vol 53 (2) ◽  
pp. 135-142 ◽  
Author(s):  
Andrew R. Harper ◽  
◽  
Anuj Goel ◽  
Christopher Grace ◽  
Kate L. Thomson ◽  
...  
Keyword(s):  
Risk Factors ◽  
Hypertrophic Cardiomyopathy ◽  
Genetic Variants ◽  
Modifiable Risk Factors ◽  
Common Genetic Variants

scholarly journals Replication of Established Common Genetic Variants for Adult BMI and Childhood Obesity in Greek Adolescents: The TEENAGE Study

2013 ◽  
Vol 77 (3) ◽  
pp. 268-274 ◽  
Author(s):  
Ioanna Ntalla ◽  
Kalliope Panoutsopoulou ◽  
Panagiota Vlachou ◽  
Lorraine Southam ◽  
Nigel William Rayner ◽  
...  
Keyword(s):  
Childhood Obesity ◽  
Genetic Variants ◽  
Common Genetic Variants

scholarly journals Detection of human elastase isoforms by the ScheBo Pancreatic Elastase 1 Test

2017 ◽  
Vol 312 (6) ◽  
pp. G606-G614 ◽  
Author(s):  
Anna Zsófia Tóth ◽  
András Szabó ◽  
Eszter Hegyi ◽  
Péter Hegyi ◽  
Miklós Sahin-Tóth
Keyword(s):  
Test Performance ◽  
Genetic Variants ◽  
Molecular Targets ◽  
Exocrine Function ◽  
Clinical Test ◽  
Critical Determinant ◽  
Pancreatic Elastase ◽  
Elastase 1 ◽  
Common Genetic Variants ◽  
Pancreatic Elastase 1

Determination of fecal pancreatic elastase content by ELISA is a reliable, noninvasive clinical test for assessing exocrine pancreatic function. Despite the widespread use of commercial tests, their exact molecular targets remain poorly characterized. This study was undertaken to clarify which human pancreatic elastase isoforms are detected by the ScheBo Pancreatic Elastase 1 Stool Test and whether naturally occurring genetic variants influence the performance of this test. Using recombinantly expressed and purified human pancreatic proteinases, we found that the test specifically measured chymotrypsin-like elastases (CELA) 3A and 3B (CELA3A and CELA3B), while CELA2A was not detected. Inactive proelastases, active elastases, and autolyzed forms were detected with identical efficiency. CELA3B elicited approximately four times higher ELISA signal than CELA3A, and we identified Glu154in CELA3B as the critical determinant of detection. Common genetic variants of CELA3A and CELA3B had no effect on test performance, with the exception of the CELA3B variant W79R, which increased detection by 1.4-fold. Finally, none of the human trypsin and chymotrypsin isoforms were detected. We conclude that the ScheBo Pancreatic Elastase 1 Stool Test is specific for human CELA3A and CELA3B, with most of the ELISA signal attributable to CELA3B.NEW & NOTEWORTHY The ScheBo Pancreatic Elastase 1 Stool Test is widely used to assess pancreatic exocrine function, yet its molecular targets have been poorly defined. We demonstrate that, among the human pancreatic proteinases, the test measures the elastase isoform CELA3B and, to a lesser extent, CELA3A. Genetic variants of the human CELA3 isoforms have no significant effect on test performance.

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