scholarly journals Identification of a single nucleotide insertion polymorphism in the upstream region of the insulin promoter factor-1 gene: an association study with diabetes mellitus

Diabetologia ◽  
1998 ◽  
Vol 41 (5) ◽  
pp. 603-605 ◽  
Author(s):  
K. Yamada ◽  
X. Yuan ◽  
S. Ishiyama ◽  
F. Ichikawa ◽  
S. Kohno ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Association Study ◽  
Upstream Region ◽  
Insertion Polymorphism ◽  
Single Nucleotide ◽  
Insulin Promoter ◽  
Nucleotide Insertion

scholarly journals Serpin Family E Member 1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetic Nephropathy: An Association Study and Meta-Analysis Using a Genetic Model-Free Approach

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1887
Author(s):  
Maria Tziastoudi ◽  
Efthimios Dardiotis ◽  
Georgios Pissas ◽  
Georgios Filippidis ◽  
Spyridon Golfinopoulos ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Diabetic Nephropathy ◽  
Association Study ◽  
Meta Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Subgroup Analyses

Background: Many lines of evidence highlight the genetic contribution on the development of diabetic nephropathy (DN). One of the studied genes is SERPINE1 whose the role in the risk of developing DN remains questionable. In order to elucidate the contribution of SERPINE1 in DN progression in the context of type 2 diabetes mellitus (T2DM), we conducted an association study and meta-analysis of SERPINE1 genetic variants. Materials and Methods: A total of 190 patients with DN, 150 T2DM (type 2 diabetes mellitus) patients without DN and 238 healthy controls were recruited. We selected five tag single-nucleotide polymorphisms (SNPs) from the HapMap. The generalized odds ratio (ORG) was calculated to estimate the risk on DN development. Subgroup analyses based on ethnicity and type of diabetes were also performed. Results: Both the present association study regarding SERPINE1 SNPs (rs2227667, rs2070682, rs1050813, rs2227690, rs2227692) did not found any significant association between SERPINE1 variants and DN and the meta-analysis of variant 4G>5G (rs1799889) did not also reveal a significant association between 4G>5G variant and DN in main and subgroup analyses. Discussion: In conclusion, the present association study and meta-analysis provides strong evidence that SERPINE1 genetic variant 4G>5G is not implicated in the risk or development of DN in Caucasians. Further studies in other populations remain to further investigate the role of this variant in the course of DN.

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 Association study of performance-related polymorphisms in Brazilian combat-sport athletes highlights variants in the GABPβ1 gene

2020 ◽  
Author(s):  
João Paulo L. F. Guilherme ◽  
Tacito P Souza-Junior ◽  
Antônio H Lancha Júnior
Keyword(s):  
Association Study ◽  
Nucleotide Polymorphisms ◽  
Combat Sport ◽  
Single Nucleotide ◽  
Athletic Status ◽  
Sport Athlete ◽  
World Class ◽  
Control Association ◽  
Brazilian Cohort ◽  
Aerobic Energy Production

Combat sports have an intermittent nature, with mixed anaerobic and aerobic energy production. Here, we investigated whether polymorphisms that have been previously suggested as genetic markers for endurance or power phenotypes were associated with combat-sport athletic status. A total of 23 previously reported performance-related polymorphisms were examined in a Brazilian cohort of 1,129 individuals (164 combat-sport athletes and 965 controls), using a case-control association study. We found that the GABPβ1 gene (also known as NRF2) was associated with athletic status, with the minor G (rs7181866) and T (rs8031031) alleles overrepresented in athletes (P ≤ 0.003), especially among world-class competitors (P ≤ 0.0002). These findings indicate that single nucleotide polymorphisms (SNPs) within the GABPβ1 gene increase the likelihood of an individual being a combat-sport athlete, possibly due to a better mitochondrial response to intermittent exercises.

scholarly journals Genome-wide Association of Single-Nucleotide Polymorphisms With Weight Loss Outcomes After Roux-en-Y Gastric Bypass Surgery

2013 ◽  
Vol 98 (6) ◽  
pp. E1131-E1136 ◽  
Author(s):  
Erica S. Rinella ◽  
Christopher Still ◽  
Yongzhao Shao ◽  
G. Craig Wood ◽  
Xin Chu ◽  
...  
Keyword(s):  
Weight Loss ◽  
Gastric Bypass ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Single Nucleotide ◽  
Snp Arrays ◽  
Genome Wide ◽  
Common Genetic Variants ◽  
Weight Loss Outcomes

Context: Roux-en-Y gastric bypass (RYGB) is among the most effective treatments for extreme obesity and obesity-related complications. However, despite its potential efficacy, many patients do not achieve and/or maintain sufficient weight loss. Objective: Our objective was to identify genetic factors underlying the variability in weight loss outcomes after RYGB surgery. Design: We conducted a genome-wide association study using a 2-stage phenotypic extreme study design. Setting: Patients were recruited from a comprehensive weight loss program at an integrated health system. Patients: Eighty-six obese (body mass index >35 kg/m2) patients who had the least percent excess body weight loss (%EBWL) and 89 patients who had the most %EBWL at 2 years after surgery were genotyped using Affymetrix version 6.0 single-nucleotide polymorphism (SNP) arrays. A second group from the same cohort consisting of 164 patients in the lower quartile of %EBWL and 169 from the upper quartile were selected for evaluation of candidate regions using custom SNP arrays. Intervention: We performed RYGB surgery. Main Outcome Measures: We assessed %EBWL at 2 years after RYGB and SNPs. Results: We identified 111 SNPs in the first-stage analysis whose frequencies were significantly different between 2 phenotypic extremes of weight loss (allelic χ2 test P < .0001). Linear regression of %EBWL at 2 years after surgery revealed 17 SNPs that approach P < .05 in the validation stage and cluster in or near several genes with potential biological relevance including PKHD1, HTR1A, NMBR, and IGF1R. Conclusions: This is the first genome-wide association study of weight loss response to RYGB. Variation in weight loss outcomes after RYGB may be influenced by several common genetic variants.

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