Neil Risch
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View article: Clinical validation of a statin-benefit polygenic score using real-world cohorts of primary prevention participants
Clinical validation of a statin-benefit polygenic score using real-world cohorts of primary prevention participants Open
Background Polygenic risk scores derived from coronary artery disease genome-wide association studies are associated with statin relative risk reduction. Objective Examine the relationship between coronary artery disease polygenic risk sco…
View article: Statin Initiation and Dementia Incidence in a Large Health Care System From 1997 to 2020
Statin Initiation and Dementia Incidence in a Large Health Care System From 1997 to 2020 Open
This emulated trial provides Class II evidence that statin initiation is not associated with AD/ADRD or AD incidence after the first year of follow-up.
View article: A novel splice site variant in<i>DEGS1</i>leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved
A novel splice site variant in<i>DEGS1</i>leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved Open
Purpose Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). We sought to resolve a 5′ +4/+5 splice site variant of uncertain significance found in thr…
View article: Sociodemographic modifiers of effects of statin initiation on dementia incidence: An emulated trial design in a large health care member population with 10+ years of follow‐up
Sociodemographic modifiers of effects of statin initiation on dementia incidence: An emulated trial design in a large health care member population with 10+ years of follow‐up Open
INTRODUCTION Mixed evidence on how statin use affects risk of Alzheimer's disease and related dementias (ADRD) may reflect heterogeneity across sociodemographic factors. Few studies have sufficient power to evaluate effect modifiers. METHO…
View article: Independent associations of high‐density lipoprotein cholesterol and triglyceride levels with Alzheimer's disease and related dementias
Independent associations of high‐density lipoprotein cholesterol and triglyceride levels with Alzheimer's disease and related dementias Open
INTRODUCTION We evaluated the independent associations between high‐density lipoprotein cholesterol (HDL‐C) and triglyceride (TG) levels with Alzheimer's disease and related dementias (ADRD). METHODS Among 177,680 members of Kaiser Permane…
View article: The relationship between life satisfaction and risk preferences of couch potatoes, recreational and elite athletes: the impact of mental dispositions and attitudes
The relationship between life satisfaction and risk preferences of couch potatoes, recreational and elite athletes: the impact of mental dispositions and attitudes Open
Introduction This study examines the relationship between physical activity and mental wellbeing among students not playing any sport (“couch potatoes”), recreational athletes and “dual career students”, i.e., students who are at the same …
View article: The Inclusion of Race in Prenatal Screening Algorithms
The Inclusion of Race in Prenatal Screening Algorithms Open
Journal Article The Inclusion of Race in Prenatal Screening Algorithms Get access Mary E Norton, Mary E Norton Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, CA, Uni…
View article: Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population Open
It has been suggested that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental/subcontine…
View article: P817: Multivariate symptom modeling and automated phenotype expansion doubles the penetrance of loss-of-function variants in a population-scale cohort*
P817: Multivariate symptom modeling and automated phenotype expansion doubles the penetrance of loss-of-function variants in a population-scale cohort* Open
Incomplete penetrance, variable expressivity, and phenotype expansion are well-documented phenomena in clinical genetics. However, when rare diseases are analyzed at the population-scale, phenotypes are typically binarized into simple diag…
View article: Identification of the molecular components of enhancer-mediated gene expression variation in multiple tissues regulating blood pressure
Identification of the molecular components of enhancer-mediated gene expression variation in multiple tissues regulating blood pressure Open
Inter-individual variation in blood pressure (BP) arises in part from sequence variants within numerous enhancers modulating expression of an unknown number of causal genes. We propose that these genes are active in tissues relevant to BP …
View article: Low- and High-Density Lipoprotein Cholesterol and Dementia Risk Over 17 Years of Follow-up Among Members of a Large Health Care Plan
Low- and High-Density Lipoprotein Cholesterol and Dementia Risk Over 17 Years of Follow-up Among Members of a Large Health Care Plan Open
Both low and high levels of HDL-C were associated with elevated dementia risk. The association between LDL-C and dementia risk was modest.
View article: European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation Open
Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, rep…
View article: The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations Open
The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically…
View article: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population Open
The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented minority (URM) and underserved (US) patients. We evaluated the diagnostic yield of ES in a …
View article: Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry
Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic Ancestry Open
Purpose It has been hypothesized that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental…
View article: Supplementary Tables S1 - S5, Figures S1 - S5 from A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences
Supplementary Tables S1 - S5, Figures S1 - S5 from A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences Open
Supplementary Table S1. Descriptive factors for KP study population, broken down by study. Supplementary Table S2. Genome-wide significant SNPs found in our cohort. Supplementary Table S3. Cis-eQTL expression of rs4646284. Supplementary Ta…
View article: Supplementary Tables S1 - S5, Figures S1 - S5 from A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences
Supplementary Tables S1 - S5, Figures S1 - S5 from A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences Open
Supplementary Table S1. Descriptive factors for KP study population, broken down by study. Supplementary Table S2. Genome-wide significant SNPs found in our cohort. Supplementary Table S3. Cis-eQTL expression of rs4646284. Supplementary Ta…
View article: Data from A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences
Data from A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences Open
A genome-wide association study (GWAS) of prostate cancer in Kaiser Permanente health plan members (7,783 cases, 38,595 controls; 80.3% non-Hispanic white, 4.9% African-American, 7.0% East Asian, and 7.8% Latino) revealed a new independent…
View article: Data from A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences
Data from A Large Multiethnic Genome-Wide Association Study of Prostate Cancer Identifies Novel Risk Variants and Substantial Ethnic Differences Open
A genome-wide association study (GWAS) of prostate cancer in Kaiser Permanente health plan members (7,783 cases, 38,595 controls; 80.3% non-Hispanic white, 4.9% African-American, 7.0% East Asian, and 7.8% Latino) revealed a new independent…
View article: Data from A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility
Data from A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility Open
To identify rare variants associated with prostate cancer susceptibility and better characterize the mechanisms and cumulative disease risk associated with common risk variants, we conducted an integrated study of prostate cancer genetic e…
View article: Data from A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility
Data from A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility Open
To identify rare variants associated with prostate cancer susceptibility and better characterize the mechanisms and cumulative disease risk associated with common risk variants, we conducted an integrated study of prostate cancer genetic e…
View article: Supplementary Data from A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility
Supplementary Data from A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility Open
Figure S1-S6, Table S1-S10
View article: Supplementary Data from A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility
Supplementary Data from A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility Open
Figure S1-S6, Table S1-S10