Stephen S. Rich
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View article: Proteome-wide association study of prostate cancer risk across populations
Proteome-wide association study of prostate cancer risk across populations Open
There is insufficient understanding of the molecular basis of prostate cancer (PCa) across different populations. We perform a large-scale proteome-wide association study (PWAS) to identify proteins with genetically regulated expression in…
View article: Epigenome-wide association study meta-analysis of BMI in African Americans
Epigenome-wide association study meta-analysis of BMI in African Americans Open
Despite considerable advances in identifying risk factors for obesity, gaps remain in our understanding about its etiology. Genetic variants explain only a small portion of variation in obesity-related traits such as body mass index (BMI).…
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
Collectively, the 17 (9 with short and 8 with long sleep) loci provided evidence into the biomolecular mechanisms underlying sleep-associated lipid changes, including potential involvement of the vitamin D receptor pathway. Collectively, t…
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
The high burden of dilated cardiomyopathy (DCM) in individuals of African descent remains incompletely explained. Here, to explore a genetic basis, we conducted a genome-wide association study in 1,802 DCM cases and 93,804 controls of Afri…
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
Recent studies have reported the involvement of complement system proteins in the initiation and progression of islet autoimmunity (IA) in the study of Type 1 diabetes (T1D). However, the genetic factors of complement system proteins at th…
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: 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
In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is k…
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: Fibrinogen-Associated Plasma Metabolites and Implications for Coagulation, Inflammation, and Vascular Diseases
Fibrinogen-Associated Plasma Metabolites and Implications for Coagulation, Inflammation, and Vascular Diseases Open
Background Fibrinogen is a critical coagulation factor that plays an essential role in thrombosis and is elevated in individuals with chronic inflammation. Here, we used fibrinogen as a representative quantitative measure of pro-coagulant …
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…