Association of the MAOB rs1799836 Single Nucleotide Polymorphism and APOE ɛ4 Allele in Alzheimer's Disease

2021 ◽  
Vol 18 ◽  
Author(s):  
Mirjana Babić Leko ◽  
Matea Nikolac Perković ◽  
Gordana Nedić Erjavec ◽  
Nataša Klepac ◽  
Dubrav-ka Švob Štrac ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Dopaminergic System ◽  
Protein Translation ◽  
Monoamine Oxidase B ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Dopaminergic Transmission ◽  
E4 Allele ◽  
Fluid Levels ◽  
Genetic Biomarker

Background: The dopaminergic system is functionally compromised in Alzheimer’s dis-ease (AD). The activity of monoamine oxidase B (MAOB), the enzyme involved in the degradation of dopamine, is increased during AD. Also, increased expression of MAOB occurs in the post-mortem hippocampus and neocortex of patients with AD. The MAOB rs1799836 polymorphism modulates MAOB transcription, consequently influencing protein translation and MAOB activity. We recently showed that cerebrospinal fluid levels of amyloid β1-42 are decreased in patients carry- ing the A allele in MAOB rs1799836 polymorphism. Objective: The present study compares MAOB rs1799836 polymorphism and APOE, the only con- firmed genetic risk factor for sporadic AD. Method: We included 253 participants, 127 of whom had AD, 57 had mild cognitive impairment, 11 were healthy controls, and 58 suffered from other primary causes of dementia. MAOB and APOE polymorphisms were determined using TaqMan SNP Genotyping Assays. Results : We observed that the frequency of APOE ɛ4/ɛ4 homozygotes and APOE ɛ4 carriers is sig- nificantly increased among patients carrying the AA MAOB rs1799836 genotype. Conclusion: These results indicate that the MAOB rs1799836 polymorphism is a potential genetic biomarker of AD and a potential target for the treatment of decreased dopaminergic transmission and cognitive deterioration in AD.

scholarly journals Twelve–Single Nucleotide Polymorphism Genetic Risk Score Identifies Individuals at Increased Risk for Future Atrial Fibrillation and Stroke

Stroke ◽  
2014 ◽  
Vol 45 (10) ◽  
pp. 2856-2862 ◽  
Author(s):  
Hayato Tada ◽  
Dov Shiffman ◽  
J. Gustav Smith ◽  
Marketa Sjögren ◽  
Steven A. Lubitz ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Single Nucleotide Polymorphism ◽  
Risk Score ◽  
Genetic Risk ◽  
Genetic Risk Score ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Increased Risk

scholarly journals Obesity, osteoarthritis and genetic risk

2018 ◽  
Vol 7 (7) ◽  
pp. 494-500 ◽  
Author(s):  
L. Jiang ◽  
X. Zhu ◽  
J. Rong ◽  
B. Xing ◽  
S. Wang ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Chinese Population ◽  
Additive Model ◽  
Controlled Study ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Adipoq Gene ◽  
Knee Oa ◽  
Northern Chinese ◽  
Northern Chinese Population

Objectives Given the function of adiponectin (ADIPOQ) on the inflammatory condition of obesity and osteoarthritis (OA), we hypothesized that the ADIPOQ gene might be a candidate gene for a marker of susceptibility to OA. Methods We systematically screened three tagging polymorphisms (rs182052, rs2082940 and rs6773957) in the ADIPOQ gene, and evaluated the association between the genetic variants and OA risk in a case-controlled study that included 196 OA patients and 442 controls in a northern Chinese population. Genotyping was performed using the Sequenom MassARRAY iPLEX platform. Results The single nucleotide polymorphism (SNP) rs182052 was found to be potentially associated with knee OA risk (additive model: odds ratio = 1.38; 95% confidence interval 1.07 to 1.76; p = 0.012). Furthermore, a non-significant association was observed for rs182052 and body mass index with regard to OA risk in interaction analyses (p = 0.063). Similarly, no significant interaction was detected for rs182052 and age with regard to OA risk (p = 0.614). Conclusion These findings suggest that the SNP rs182052 in the ADIPOQ gene may potentially modify individual susceptibility to knee OA in the Chinese population. Further studies are warranted to investigate our findings in more depth. Cite this article: L. Jiang, X. Zhu, J. Rong, B. Xing, S. Wang, A. Liu, M. Chu, G. Huang. Obesity, osteoarthritis and genetic risk: The rs182052 polymorphism in the ADIPOQ gene is potentially associated with risk of knee osteoarthritis. Bone Joint Res 2018;7:494–500. DOI: 10.1302/2046-3758.77.BJR-2017-0274.R1.

scholarly journals Prediction of cholesterol ratios within a Korean population

2018 ◽  
Vol 5 (1) ◽  
pp. 171204
Author(s):  
Jin Sol Lee ◽  
Hyun Sub Cheong ◽  
Hyoung Doo Shin
Keyword(s):  
Genetic Risk ◽  
Cross Validation ◽  
Density Lipoprotein ◽  
Risk Scores ◽  
Genotype Data ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Regression Slopes ◽  
Validation Set ◽  
Fold Cross Validation

Cholesterol ratios (total cholesterol (TC)/high-density lipoprotein cholesterol (HDL-c) and triglyceride (TG)/HDL-c) have been suggested as better indicators to predict various clinical features such as insulin resistance and heart disease. Therefore, we aimed to build a single nucleotide polymorphism (SNP) set to predict constitutional lipid metabolism. The genotype data of 7795 samples were obtained from the Korea Association Resource. Among the total of 7795 samples, 7016 subjects were used to perform 10-fold cross-validation. We selected the SNPs that showed significance constantly throughout all 10 cross-validation sets; another 779 samples were used as the final validation set. After performing the 10-fold cross-validation, the six SNPs ( rs4420638 ( APOC1 ), rs12421652 ( BUD13 ) , rs17411126 ( LPL ) , rs6589566 ( ZPR1 ) , rs16940212 ( LOC101928635 ) and rs10852765 ( ABCA8 )) were finally selected for predicting cholesterol ratios. The weighted genetic risk scores (wGRS) were calculated based on the regression slopes of the six selected SNPs. Our results showed upward trends of wGRS for both the TC/HDL-c and TG/HDL-c ratios within the 10-fold cross-validation. Similarly, the wGRS of the six SNPs also showed upward trends in analyses using the SNP selection set and final validation set. The selected six SNPs can be used to explain both the TC/HDL-c and TG/HDL-c ratios. Our results may be useful for the prospective predictions of cholesterol-related diseases.

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