Results 1 - 10
of
15
Improved risk prediction for Crohn's disease with a multi-locus approach. Hum Mol Genet. 2011; 20:2435–2442. [PubMed: 21427131
"... Genome-wide association studies have identified numerous loci demonstrating genome-wide significant association with Crohn’s disease. However, when many single nucleotide polymorphisms (SNPs) have weak-to-moderate disease risks, genetic risk prediction models based only on those markers that pass th ..."
Abstract
-
Cited by 5 (2 self)
- Add to MetaCart
(Show Context)
Genome-wide association studies have identified numerous loci demonstrating genome-wide significant association with Crohn’s disease. However, when many single nucleotide polymorphisms (SNPs) have weak-to-moderate disease risks, genetic risk prediction models based only on those markers that pass the most stringent statistical significance testing threshold may be suboptimal. Haplotype-based predictive models may provide advantages over single-SNP approaches by facilitating detection of associations driven by cis-interactions among nearby SNPs. In addition, these approaches may be helpful in assaying non-genotyped, rare causal variants. In this study, we investigated the use of two-marker haplotypes for risk prediction in Crohn’s disease and show that it leads to improved prediction accuracy compared with single-point analyses. With large numbers of predictors, traditional classification methods such as logistic regression and support vector machine approaches may be suboptimal. An alternative approach is to apply the risk-score method calculated as the number of risk haplotypes an individual carries, both within and across loci. We used the area under the curve (AUC) of the receiver operating curve to assess the performance of prediction models in large-scale genetic data, and observed that the prediction performance in the validation cohort continues to improve as thousands of haplotypes are included in the model, with the AUC reaching its plateau at 0.72 at ∼7000 haplotypes, and begins to gradually decline after that point. In contrast, using the SNP as predictors, we only obtained maximum AUC of 0.65. Validation studies in indepen-dent cohorts further support improved prediction capacity with multi-marker, as opposed to single marker analyses.
Ambiguity aversion and familiarity bias: evidence from behavioral and gene association studies
- Journal of Risk and Uncertainty
, 2012
"... Abstract It is increasingly recognized that decision making under uncertainty depends not only on probabilities, but also on psychological factors such as ambiguity and familiarity. Using 325 Beijing subjects, we conduct a neurogenetic study of ambiguity aversion and familiarity bias in an incentivi ..."
Abstract
-
Cited by 3 (0 self)
- Add to MetaCart
(Show Context)
Abstract It is increasingly recognized that decision making under uncertainty depends not only on probabilities, but also on psychological factors such as ambiguity and familiarity. Using 325 Beijing subjects, we conduct a neurogenetic study of ambiguity aversion and familiarity bias in an incentivized laboratory setting. For ambiguity aversion, 49.4 % of the subjects choose to bet on the 50–50 deck despite the unknown deck paying 20 % more. For familiarity bias, 39.6 % choose the bet on Beijing’s temperature rather than the corresponding bet with Tokyo even though the latter pays 20 % more. We genotype subjects for anxiety-related candidate genes and find a serotonin transporter polymorphism being associated with familiarity bias, but not ambiguity aversion, while the dopamine D5 receptor gene and estrogen receptor beta gene are associated with ambiguity aversion only among female subjects. Our findings contribute to understanding of decision making under uncertainty beyond revealed preference.
Investigating the viability of genetic screening/testing for RA susceptibility using combinations
"... of five confirmed risk loci ..."
doi:10.1155/2010/172593 Review Article Human Genetics of Diabetic Retinopathy: Current Perspectives
, 2010
"... which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Diabetic retinopathy (DR) is a most severe microvascular complication which, if left unchecked, can be sight-threatening. With the global prevalence of diabetes being relentles ..."
Abstract
- Add to MetaCart
(Show Context)
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Diabetic retinopathy (DR) is a most severe microvascular complication which, if left unchecked, can be sight-threatening. With the global prevalence of diabetes being relentlessly projected to rise to 438 million subjects by 2030, DR will undoubtedly pose a major public health concern. Efforts to unravel the human genetics of DR have been undertaken using the candidate gene and linkage approaches, while GWAS efforts are still lacking. Aside from evidence for a few genes including aldose reductase and vascular endothelial growth factor, the genetics of DR remain poorly elucidated. Nevertheless, the promise of impactful scientific discoveries may be realized if concerted and collaborative efforts are mounted to identify the genes for DR. Harnessing new genetic technologies and resources such as the upcoming 1000 Genomes Project will help advance this field of research, and potentially lead to a rich harvest of insights into the biological mechanisms underlying this debilitating complication. 1.
PRIMARY RESEARCH Prediction of complex hum n r
"... ic predictions ing regression olymorphisms y GWAS, but kers has been r [3]. A simi-sing heritabil-Bhattacharjee et al. Human Genomics (2015) 9:8 DOI 10.1186/s40246-015-0030-6and complex diseases, the missing heritability problem500046, India Full list of author information is available at the end of ..."
Abstract
- Add to MetaCart
(Show Context)
ic predictions ing regression olymorphisms y GWAS, but kers has been r [3]. A simi-sing heritabil-Bhattacharjee et al. Human Genomics (2015) 9:8 DOI 10.1186/s40246-015-0030-6and complex diseases, the missing heritability problem500046, India Full list of author information is available at the end of the articleity ” is encountered when only highly associated markers are used to estimate heritability of complex traits [4, 5]. However, as demonstrated recently with human height
RESEARCH ARTICLE Open Access
"... A comparison of genomic profiles of complex diseases under different models ..."
Abstract
- Add to MetaCart
A comparison of genomic profiles of complex diseases under different models
CLINICAL GENETICS doi: 10.1111/cge.12206 Review
"... Age-related macular degeneration – clinical review and genetics update Ratnapriya R, Chew EY. Age-related macular degeneration – clinical review and genetics update. Clin Genet 2013: 84: 160–166. Published 2013. This article is a U.S. Government work and is in the public domain in the USA., 2013 Age ..."
Abstract
- Add to MetaCart
(Show Context)
Age-related macular degeneration – clinical review and genetics update Ratnapriya R, Chew EY. Age-related macular degeneration – clinical review and genetics update. Clin Genet 2013: 84: 160–166. Published 2013. This article is a U.S. Government work and is in the public domain in the USA., 2013 Age-related macular degeneration (AMD) is the leading cause of central vision impairment in persons over the age of 50 years in developed countries. Both genetic and non-genetic (environmental) factors play major roles in AMD etiology, and multiple gene variants and lifestyle factors such as smoking have been associated with the disease. While dissecting the basic etiology of the disease remains a major challenge, current genetic knowledge has provided opportunities for improved risk assessment, molecular diagnosis and clinical testing of genetic variants in AMD treatment and management. This review addresses the potential of translating the wealth of genetic findings for improved risk prediction and therapeutic intervention in AMD patients. Finally, we discuss the recent advancement in genetics and genomics and the future prospective of personalized medicine in AMD patients. Conflict of interest The authors have no conflict of interest to declare. Re-use of this article is permitted in accordance with the Terms and
