scholarly journals Single-nucleotide polymorphisms in HORMAD1 may be a risk factor for azoospermia caused by meiotic arrest in Japanese patients

2012 ◽  
Vol 14 (4) ◽  
pp. 580-583 ◽  
Author(s):  
Toshinobu Miyamoto ◽  
Akira Tsujimura ◽  
Yasushi Miyagawa ◽  
Eitetsu Koh ◽  
Mikio Namiki ◽  
...  
Keyword(s):  
Risk Factor ◽  
Single Nucleotide Polymorphisms ◽  
Japanese Patients ◽  
Nucleotide Polymorphisms ◽  
Meiotic Arrest ◽  
Single Nucleotide

scholarly journals 3321 European Ancestry as a Risk Factor for Atrial Fibrillation in Puerto Rican Hispanics

2019 ◽  
Vol 3 (s1) ◽  
pp. 10-11
Author(s):  
Ariel Gonzalez-Cordero ◽  
Jorge Duconge-Soler ◽  
Ángel López-Candales
Keyword(s):  
Atrial Fibrillation ◽  
Risk Factor ◽  
Single Nucleotide Polymorphisms ◽  
Puerto Rican ◽  
Population Sample ◽  
European Ancestry ◽  
Genetic Admixture ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

OBJECTIVES/SPECIFIC AIMS: Consequently, we have decided to evaluate the presence of single nucleotide polymorphism (SNP) previously associated with AF on a European-descent population in an attempt to first identify the most common loci present in the PRH population and then search for specific PRH SNP associated with AF. METHODS/STUDY POPULATION: A secondary analysis of a Puerto Rican population sample (n = 120) from The Pharmacogenetics of Warfarin in Puerto Ricans Study will be performed. We will implement data from the 1000 genome project to establish a control group of healthy PRH population. Will evaluate the presence of 111 known single nucleotide polymorphisms associated with AF in Europeans and determine the frequency in PRH population sample, and validate predictability of such SNPs. Using admixture informatic markers (AIM) analysis will determine the percentage of admixture by Yoruba, Native American and Iberic-European. Statistical analysis will include the use of the Pearson Product-Moment Coefficient correlation analysis and multivariate linear regression. For admixture will use Maximum Likelihood Estimation and Markov Chain Monte Carlo models. RESULTS/ANTICIPATED RESULTS: A higher frequency of AF associated European single nucleotide polymorphisms, and an overall higher percentage of European admixture will be associated with atrial fibrillation in Puerto Rican Hispanic patients. DISCUSSION/SIGNIFICANCE OF IMPACT: Our contributions here are expected to be the elucidation of European ancestry as a risk factor for AF. These contributions will be significant because it can provide a robust scientific basis for larger GWAS studies in the Puerto Rican community and further narrow down the mechanism specific to this population. Research in this subject could lead to early identification of patients with high risk of developing atrial fibrillation and further decrease incidence and disease burden in the PRH population. Puerto Rican Hispanics have an exclusive genetic admixture that makes for an appealing research subject that could deliver unique results.

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