scholarly journals Assessing the Genetic Correlations Between Blood Plasma Proteins and Osteoporosis: A Polygenic Risk Score Analysis

2018 ◽  
Vol 104 (2) ◽  
pp. 171-181 ◽  
Author(s):  
Xiao Liang ◽  
Yanan Du ◽  
Yan Wen ◽  
Li Liu ◽  
Ping Li ◽  
...  
Keyword(s):  
Blood Plasma ◽  
Risk Score ◽  
Plasma Proteins ◽  
Genetic Correlations ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
Score Analysis ◽  
Blood Plasma Proteins

scholarly journals Polygenic risk for schizophrenia, transition and cortical gyrification: a high-risk study

2017 ◽  
Vol 48 (9) ◽  
pp. 1532-1539 ◽  
Author(s):  
E. Neilson ◽  
C. Bois ◽  
T.-K. Clarke ◽  
L. Hall ◽  
E. C. Johnstone ◽  
...  
Keyword(s):  
High Risk ◽  
Risk Score ◽  
Familial Risk ◽  
Positive Association ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
Score Analysis ◽  
Increased Risk ◽  
Heritable Disorder ◽  
Diagnostic Symptoms

AbstractBackgroundSchizophrenia is a highly heritable disorder, linked to several structural abnormalities of the brain. More specifically, previous findings have suggested that increased gyrification in frontal and temporal regions are implicated in the pathogenesis of schizophrenia.MethodsThe current study included participants at high familial risk of schizophrenia who remained well (n= 31), who developed sub-diagnostic symptoms (n= 28) and who developed schizophrenia (n= 9) as well as healthy controls (HC) (n= 16). We first tested whether individuals at high familial risk of schizophrenia carried an increased burden of trait-associated alleles using polygenic risk score analysis. We then assessed the extent to which polygenic risk was associated with gyral folding in the frontal and temporal lobes.ResultsWe found that individuals at high familial risk of schizophrenia who developed schizophrenia carried a significantly greater burden of risk-conferring variants for the disorder compared to those at high risk (HR) who developed sub-diagnostic symptoms or remained well and HC. Furthermore, within the HR cohort, there was a significant and positive association between schizophrenia polygenic risk score and bilateral frontal gyrification.ConclusionsThese results suggest that polygenic risk for schizophrenia impacts upon early neurodevelopment to confer greater gyral folding in adulthood and an increased risk of developing the disorder.

scholarly journals POLYGENIC RISK SCORE ANALYSIS OF ALZHEIMER’S DISEASE IN CASES WITHOUT APOE4 OR APOE2 ALLELES

2018 ◽  
pp. 1-4
Author(s):  
V. Escott-Price ◽  
A. Myers ◽  
M. Huentelman ◽  
M. Shoai ◽  
J. Hardy
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Risk Score ◽  
Clinical Trial Design ◽  
Polygenic Risk Score ◽  
Carrier Status ◽  
Predictive Utility ◽  
Polygenic Risk ◽  
Score Analysis ◽  
E4 Allele

The We and others have previously shown that polygenic risk score analysis (PRS) has considerable predictive utility for identifying those at high risk of developing Alzheimer’s disease (AD) with an area under the curve (AUC) of >0.8. However, by far the greatest determinant of this risk is the apolipoprotein E locus with the E4 allele alone giving an AUC of ~0.68 and the inclusion of the protective E2 allele increasing this to ~0.69 in a clinical cohort. An important question is to determine how good PRS is at predicting risk in those who do not carry the E4 allele (E3 homozygotes, E3E2 and E2E2) and in those who carry neither the E4 or E2 allele (i.e. E3 homozygotes). Previous studies have shown that PRS remains a significant predictor of AD risk in clinical cohorts after controlling for APOE ε4 carrier status. In this study we assess the accuracy of PRS prediction in a cohort of pathologically confirmed AD cases and controls. The exclusion of APOE4 carriers has surprisingly little effect on the PRS prediction accuracy (AUC ~0.83 [95% CI: 0.80-0.86]), and the accuracy remained higher than that in clinical cohorts with APOE included as a predictor. From a practical perspective this suggests that PRS analysis will have predictive utility even in E4 negative individuals and may be useful in clinical trial design.

scholarly journals A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains

2017 ◽  
Vol 177 (1) ◽  
pp. 21-34 ◽  
Author(s):  
Siri Ranlund ◽  
Stella Calafato ◽  
Johan H. Thygesen ◽  
Kuang Lin ◽  
Wiepke Cahn ◽  
...  
Keyword(s):  
Risk Score ◽  
Polygenic Risk Score ◽  
Cognitive Domains ◽  
Polygenic Risk ◽  
Score Analysis

scholarly journals Polygenic risk score-analysis of thromboembolism in patients with acute lymphoblastic leukemia

2020 ◽  
Vol 196 ◽  
pp. 15-20
Author(s):  
Kirsten Brunsvig Jarvis ◽  
Rikke Linnemann Nielsen ◽  
Ramneek Gupta ◽  
Freja Dahl Hede ◽  
Pasi Huttunen ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Risk Score ◽  
Lymphoblastic Leukemia ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
Score Analysis

scholarly journals Self-reported hearing loss questions provide a good measure for genetic studies: a polygenic risk score analysis from UK Biobank

2020 ◽  
Vol 28 (8) ◽  
pp. 1056-1065
Author(s):  
Stacey S. Cherny ◽  
Gregory Livshits ◽  
Helena R. R. Wells ◽  
Maxim B. Freidin ◽  
Ida Malkin ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Risk Score ◽  
Good Measure ◽  
Polygenic Risk Score ◽  
Uk Biobank ◽  
Genetic Studies ◽  
Polygenic Risk ◽  
Score Analysis

scholarly journals Polygenic risk score models based on anxiety-related traits as endophenotypes to predict unipolar depression and suicidal behavior

2019 ◽  
pp. 82-83
Author(s):  
A. V. Kazantseva ◽  
R. F. Enikeeva ◽  
Yu. D. Davydova ◽  
R. G. Valinurov ◽  
I. Yu. Ahmerova I.Yu. ◽  
...  
Keyword(s):  
Regression Analysis ◽  
Individual Differences ◽  
Risk Score ◽  
Suicidal Behavior ◽  
Neurotrophic Factors ◽  
Unipolar Depression ◽  
Polygenic Risk Score ◽  
Leukocyte Telomere Length ◽  
Polygenic Risk ◽  
Score Analysis

The present study included the construction of polygenic risk score (PRS) models of individual differences in anxiety level, which increased values represent the endophenotype of depression and suicidal behavior, to predict these psychopathologies based on genotyping of 63 SNPs of serotoninergic, hypothalamicpituitary-adrenal and neurotrophic factors systems together with the relative leukocyte telomere length. According to logistic regression analysis, PRS models of individual differences in Neuroticism (EPI) level (P<0,2) predicted decreased risk of unipolar depression (P0.2=0,033, β=-5,24, r2=0,78) in women, which points to the necessity to consider sex during polygenic risk score analysis.

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