scholarly journals Comprehensive Registration of DNA Sequence Variants Associated with Inherited Retinal Diseases in Leiden Open Variation Databases

2013 ◽  
Vol 35 (1) ◽  
pp. 147-148 ◽  
Author(s):  
Frans P.M. Cremers ◽  
Johan T. den Dunnen ◽  
Muhammad Ajmal ◽  
Alamdar Hussain ◽  
Markus N. Preising ◽  
...  
Keyword(s):  
Dna Sequence ◽  
Sequence Variants ◽  
Retinal Diseases ◽  
Dna Sequence Variants

Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIα gene (PIP5K2A) with schizophrenia

2006 ◽  
Vol 11 (9) ◽  
pp. 837-846 ◽  
Author(s):  
S G Schwab ◽  
M Knapp ◽  
P Sklar ◽  
G N Eckstein ◽  
C Sewekow ◽  
...  
Keyword(s):  
Dna Sequence ◽  
Sequence Variants ◽  
Dna Sequence Variants ◽  
Phosphatidylinositol 4

Rapid Detection of DNA Sequence Variants by Conformation-Sensitive Capillary Electrophoresis

Genomics ◽  
2000 ◽  
Vol 70 (1) ◽  
pp. 34-40 ◽  
Author(s):  
M. Rozycka ◽  
N. Collins ◽  
M.R. Stratton ◽  
R. Wooster
Keyword(s):  
Capillary Electrophoresis ◽  
Dna Sequence ◽  
Rapid Detection ◽  
Sequence Variants ◽  
Dna Sequence Variants

Abstract P255: Genetic Variation in Chromosome 8p23 is Associated With Sedentary Behavior in Humans

Circulation ◽  
2014 ◽  
Vol 129 (suppl_1) ◽  
Author(s):  
Tuomo Rankinen ◽  
Mark A Sarzynski ◽  
Barbara Sternfeld ◽  
Steve Sidney ◽  
Claude Bouchard
Keyword(s):  
African Americans ◽  
Sedentary Behavior ◽  
Dna Sequence ◽  
Sedentary Time ◽  
Sitting Time ◽  
Sequence Variants ◽  
Replication Studies ◽  
Genome Wide ◽  
A Genome ◽  
Dna Sequence Variants

Sedentary behavior, usually quantified as sitting time, has been shown to be associated with several adverse health outcomes, even among individuals who meet the current recommendations for physical activity. Both twin and family studies have shown that sedentary behavior aggregates in families and is a heritable trait. However, little is known about genes and DNA sequence variants that contribute to propensity to be sedentary. The purpose of our study was to conduct a genome-wide association study to identify genomic regions and DNA sequence variants associated with sedentary time. A total of 67,530 Caucasians (56% female, mean age 62.1 years [SD 12.5]) from the Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH) cohort were used for the discovery analyses. Other RPGEH ethnicities (African-Americans: N=2,500; East Asians: N=6,300; Hispanics: N=8,800) were used for replication studies. Information on daily sitting time outside of work was obtained by a questionnaire. A custom panel of 657,184 autosomal single nucleotide polymorphisms (SNPs) was genotyped using Affymetrix platform. Associations between sedentary time (dichotomized; cases 3 hours or more, controls less than 3 hours per day) and the SNPs were tested with PLINK logistic model using age, sex, BMI and admixture principal components as covariates. The strongest evidence of association was detected on chromosome 8p23.1. A total of 24 SNPs within a 1.34 Mb region were associated with sedentary time at genome-wide significance level (p<5x10 -8 ), with SNP rs11774552 showing the peak association (OR=0.924, p= 1.7x10 -12 ). Sex-specific analyses confirmed that the associations were present both in men and women. The same SNPs were not associated with sedentary time in other ethnicities. However, SNP rs28754712, which is located in the immediate vicinity (+456 bp) of rs11774552, showed a significant association with sedentary time (OR=0.795, p=1.2x10 -3 ) in African-Americans. In summary, our results provide the first evidence of genomic region and DNA sequence variants associated with sedentary behavior in humans. If confirmed in additional replication studies, these findings will advance our understanding of biological mechanisms contributing to propensity to be sedentary.

Abstract 233: Genetic Evidence for Overlap in the Pathogenesis of Peripheral Artery Disease and Coronary Artery Disease

2017 ◽  
Vol 37 (suppl_1) ◽  
Author(s):  
Derek Klarin ◽  
Aeron Small ◽  
Jie Huang ◽  
Julie Lynch ◽  
Shipra Arya ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Dna Sequence ◽  
Peripheral Artery Disease ◽  
Genetic Risk ◽  
Sequence Variants ◽  
Z Score ◽  
Peripheral Artery ◽  
Dna Sequence Variants ◽  
Artery Disease

Introduction: Peripheral artery disease (PAD) is thought to share atherosclerotic biologic mechanisms and traditional risk factors with coronary artery disease (CAD). Although significant progress has been made in identifying genetic contributors to CAD, genetic factors underlying PAD remain largely uncharacterized. The aim of our study was to evaluate the shared genetic architecture between PAD and CAD. Hypothesis: DNA sequence variants associated with CAD risk are also associated with PAD. Methods: We analyzed the electronic health records from 239,621 U.S. Veterans of European ancestry with available imputed genetic data from the VA Million Veteran Program. Within this cohort we identified 16,364 participants with PAD, and 67,636 with CAD. We constructed additive weighted genetic risk scores (GRS) of 57 DNA sequence variants previously associated with CAD at genome-wide significance. We standardized the GRS to have a mean of zero and standard deviation (SD) of 1, and assessed the strength of its association with PAD through logistic regression. Models were adjusted for age, sex, and 7 principal components of ancestry. In a mediation analysis, we then included CAD status in the model to examine if these genetic associations remained significant after accounting for a CAD diagnosis. Results: The CAD GRS was significantly associated with clinical CAD [OR = 1.22 per SD increase in GRS, (95%CI: 1.21 -1.23, Z-Score = 44.5, P < 2 x10 -16 )]. The CAD GRS was also significantly associated with PAD [OR = 1.12 per SD increase in GRS, (95%CI: 1.10-1.14, Z-Score = 14.5, P < 2x10 -16 )]. This magnitude of association was attenuated when further adjusting for CAD in the regression model but remained strongly significant [OR = 1.05 per SD increase in GRS, (95%CI: 1.03-1.07, Z-Score = 6.2, P = 5.6x10 -10 )]. Conclusions: In the largest single cohort of CAD and PAD cases worldwide, we found that a genetic risk score of DNA sequence variants associated with risk for CAD are also associated with risk of PAD, even after accounting for the presence of coronary atherosclerosis. These data suggest significant overlap in the mechanisms underlying development of atherosclerosis within both the peripheral and coronary arterial beds.

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