Stephen S. Rich
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View article: Genome-wide gene-sleep interaction study identifies novel lipid loci in 732,564 participants
Genome-wide gene-sleep interaction study identifies novel lipid loci in 732,564 participants Open
View article: Table S2 from Associations between Ambient Air Pollutants and Clonal Hematopoiesis of Indeterminate Potential
Table S2 from Associations between Ambient Air Pollutants and Clonal Hematopoiesis of Indeterminate Potential Open
Supplementary Table 2 shows additional results for non smokers and never smokers in the MESA and WHI cohorts.
View article: Quantifying the impact of early life growth adversity on later life health
Quantifying the impact of early life growth adversity on later life health Open
Background Early-life growth adversity is important to later-life health, but precision assessment in adulthood is challenging. We evaluated whether the difference between attained and genotype-predicted adult height (“height-GaP”) would a…
View article: An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy
An African ancestry-specific nonsense variant in CD36 is associated with a higher risk of dilated cardiomyopathy Open
View article: Association of Epigenetic Age Acceleration and Mitochondrial <scp>DNA</scp> ‐Based Aging Metrics Provides Insights Into Mechanisms of Aging‐Related Diseases
Association of Epigenetic Age Acceleration and Mitochondrial <span>DNA</span> ‐Based Aging Metrics Provides Insights Into Mechanisms of Aging‐Related Diseases Open
Investigating the interplay between mitochondrial DNA (mtDNA) variations and epigenetic aging metrics may elucidate biological mechanisms associated with age‐related diseases. We estimated epigenetic age acceleration (EAA) metrics from DNA…
View article: Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations
Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations Open
Clonal hematopoiesis (CH) is defined by the expansion of a lineage of genetically identical cells in blood. Genetic lesions that confer a fitness advantage, such as leukemogenic point mutations or mosaic chromosomal alterations (mCAs), are…
View article: Prediction of Polygenic Risks by Screening Thousands of Polygenic Scores
Prediction of Polygenic Risks by Screening Thousands of Polygenic Scores Open
Rationale: A polygenic score (PGS) summarizes the genetic information of a person in a single number for a trait, and its utility in genomic medicine is well-recognized. Although PGS models have been generated for many traits, they are not…
View article: HLA-focused type 1 diabetes genetic risk prediction in populations of diverse ancestry
HLA-focused type 1 diabetes genetic risk prediction in populations of diverse ancestry Open
Aims/hypothesis Type 1 diabetes is characterised by the destruction of pancreatic beta cells. Genetic factors account for approximately 50% of the total risk, with variants in the HLA region contributing to half of this genetic risk. Resea…
View article: Polygenic risk score for type 2 diabetes shows context-dependent effects across populations
Polygenic risk score for type 2 diabetes shows context-dependent effects across populations Open
Polygenic risk scores hold prognostic value for identifying individuals at higher risk of type 2 diabetes. However, further characterization is needed to understand the generalizability of type 2 diabetes polygenic risk scores in diverse p…
View article: Genetic mapping of complement system proteins for islet autoimmunity in children with high risk of T1D
Genetic mapping of complement system proteins for islet autoimmunity in children with high risk of T1D Open
View article: Association of genetic scores related to insulin resistance with neurological outcomes in ancestrally diverse cohorts from the Trans-Omics for Precision Medicine (TOPMed) program
Association of genetic scores related to insulin resistance with neurological outcomes in ancestrally diverse cohorts from the Trans-Omics for Precision Medicine (TOPMed) program Open
To better characterize the potential biological mechanisms underlying insulin resistance (IR) and dementia, we derive cross-population and population specific polygenic scores [PSs] for fasting insulin and IR-related partitioned PSs [pPSs]…
View article: Associations of Immune Cell Subsets With Coronary Artery Calcium Incidence and Progression in the Multi‐Ethnic Study of Atherosclerosis
Associations of Immune Cell Subsets With Coronary Artery Calcium Incidence and Progression in the Multi‐Ethnic Study of Atherosclerosis Open
Background Limited data exist on associations of immune cell subsets with longitudinal changes in subclinical coronary artery disease. Methods In the MESA (Multi‐Ethnic Study of Atherosclerosis) study, we used a case‐cohort approach to exp…
View article: Genome-wide association study provides novel insight into the genetic architecture of severe obesity
Genome-wide association study provides novel insight into the genetic architecture of severe obesity Open
Severe obesity (SevO) is a primary driver of cardiovascular diseases (CVD), cardiometabolic diseases (CMD) and several cancers, with a disproportionate impact on marginalized populations. SevO is an understudied global health disease, limi…
View article: The role of community pharmacists in medicines optimisation for housebound people: A scoping review
The role of community pharmacists in medicines optimisation for housebound people: A scoping review Open
Background An increasingly ageing population presents many challenges for healthcare systems, including how to support older adults who are more likely to be both housebound and have complex medication needs. Community pharmacists may play…
View article: Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals
Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals Open
This study provides a meta-analysis framework for large-scale whole genome sequence association analyses from diverse population groups, yielding novel rare non-coding variant associations.
View article: Estimating population structure using epigenome-wide methylation data
Estimating population structure using epigenome-wide methylation data Open
Introduction In epigenome-wide association analysis (EWAS), unaddressed population stratification often leads to inflation. We aimed to compute methylation population scores (MPSs) that predict genetic principal components (GPCs) using a f…
View article: Preoperative focused echocardiography on patients with fractured neck of femur. ECHONOF-III trial: study protocol for a multicenter randomized controlled trial
Preoperative focused echocardiography on patients with fractured neck of femur. ECHONOF-III trial: study protocol for a multicenter randomized controlled trial Open
Registration number: ACTRN12622001546741. Date registered 14/12/2022.
View article: Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia
Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia Open
View article: Steroid hormone biosynthesis and dietary related metabolites associated with excessive daytime sleepiness
Steroid hormone biosynthesis and dietary related metabolites associated with excessive daytime sleepiness Open
Details regarding funding supporting this work and all studies involved are provided in the acknowledgements section.
View article: Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry
Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry Open
This study of SDS across a diverse North American sample extends available growth data for this rare condition, confirming persistent short stature but normal BMI for age in SDS. HSCT was associated with a reduction in growth. No significa…
View article: HLA-focused type 1 diabetes genetic risk prediction in populations of diverse ancestry
HLA-focused type 1 diabetes genetic risk prediction in populations of diverse ancestry Open
Aims/hypothesis: Type 1 diabetes is characterized by the destruction of pancreatic beta cells. Genetic factors account for ~50% of the total risk, with variants in the Human Leukocyte Antigen (HLA) region contributing to half of this genet…
View article: The heterogeneity of type 1 diabetes: implications for pathogenesis, prevention, and treatment—2024 Diabetes, Diabetes Care, and Diabetologia Expert Forum
The heterogeneity of type 1 diabetes: implications for pathogenesis, prevention, and treatment—2024 Diabetes, Diabetes Care, and Diabetologia Expert Forum Open
View article: The Heterogeneity of Type 1 Diabetes: Implications for Pathogenesis, Prevention, and Treatment—2024 <i>Diabetes</i>, <i>Diabetes Care</i>, and <i>Diabetologia</i> Expert Forum
The Heterogeneity of Type 1 Diabetes: Implications for Pathogenesis, Prevention, and Treatment—2024 <i>Diabetes</i>, <i>Diabetes Care</i>, and <i>Diabetologia</i> Expert Forum Open
This article summarizes the current understanding of the heterogeneity of type 1 diabetes from a June 2024 international Expert Forum organized by the editors of Diabetes, Diabetes Care, and Diabetologia. The Forum reviewed key factors con…
View article: Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging
Mosaic Loss of Y chromosome associates with lung function, emphysema and epigenetic aging Open
Mosaic loss of Y chromosome (mLOY) in blood cells is an age-related somatic mutation, but its relationship with pulmonary health remains undercharacterized. Leveraging mLOY assessment in over 12,000 men, including 5,097 from the COPDGene S…
View article: The Heterogeneity of Type 1 Diabetes: Implications for Pathogenesis, Prevention, and Treatment—2024 <i>Diabetes</i>, <i>Diabetes Care</i>, and <i>Diabetologia</i> Expert Forum
The Heterogeneity of Type 1 Diabetes: Implications for Pathogenesis, Prevention, and Treatment—2024 <i>Diabetes</i>, <i>Diabetes Care</i>, and <i>Diabetologia</i> Expert Forum Open
This article summarizes the current understanding of the heterogeneity of type 1 diabetes from a June 2024 international Expert Forum organized by the editors of Diabetes, Diabetes Care, and Diabetologia. The Forum reviewed key factors con…
View article: Coronary Artery Disease–Based Polygenic Risk Score in Early-Onset Acute Myocardial Infarction Subtypes
Coronary Artery Disease–Based Polygenic Risk Score in Early-Onset Acute Myocardial Infarction Subtypes Open
View article: Development and recalibration of a multivariable type 1 diabetes prediction model for type 1 diabetes across multiple screening studies
Development and recalibration of a multivariable type 1 diabetes prediction model for type 1 diabetes across multiple screening studies Open
View article: A Novel FNDC1-NAMPT-NAD axis is Implicated in Small and Large-vessel Arterial Disease and Drives Vascular Calcification
A Novel FNDC1-NAMPT-NAD axis is Implicated in Small and Large-vessel Arterial Disease and Drives Vascular Calcification Open
Vascular calcification represents a convergent pathological feature of diverse cardiovascular diseases, yet the upstream molecular programs orchestrating this process remain poorly defined. Here, we uncover fibronectin type III domain-cont…
View article: Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking
Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking Open
View article: The cAMP responsive element modulator (CREM) transcription factor influences susceptibility to undernutrition and infection
The cAMP responsive element modulator (CREM) transcription factor influences susceptibility to undernutrition and infection Open
We previously identified genetic polymorphisms associated with Entamoeba histolytica -positive diarrhea at the locus containing the transcription factor, cAMP responsive element modulator ( CREM ). Genetic association testing in birth coho…