Age, Gender, Biometry, Refractive Error, and the Anterior Chamber Angle among Alaskan Eskimos

The prevalence of angle-closure glaucoma (ACG) is greater for Eskimos/Inuit than it is for any other ethnic group in the world. Although it has been suggested that this prevalence may be due to a population tendency toward shallower anterior chamber angles, available evidence for other populations such as Chinese with high rates of ACG has not consistently demonstrated such a tendency

Spatial clustering of ocular chlamydial infection over time following treatment, among households in a village in Tanzania. Invest Ophthalmol Vis Sci 2006

PURPOSE. To observe the spatial distribution of households with high loads of ocular chlamydia infection in children, before and after mass treatment with azithromycin to determine whether there exists spatial clustering of households with high loads of infection and the spatial scale of the clustering. METHODS. All residents of a village in Tanzania were invited to participate in the study. A global positioning system unit recorded the location of each house. Mass treatment with azithromycin was offered, with participation above 80%. Active trachoma and swab samples of the conjunctiva were assessed at baseline and at 2, 6, 12, and 18 months after treatment. A k-function analysis was performed to detect clustering of households with high loads of ocular chlamydia in children younger than 8 years. RESULTS. A total of 1055 villagers were examined during the study; of these, 374 (35.4%) were children younger than 8 years. The total number of households was 215, with 182 (84.6%) households having at least one child. K-function analysis showed clustering of households with high loads of ocular chlamydia at distances up to 2 kilometers (km) at baseline; at 6 months, slight clustering existed within 0.5 km. At 12 and 18 months, high load households clustered at distances up to 1.3 km. CONCLUSIONS. This analysis suggests that infection spreads between households with children or that nearby households share the same risk factors for infection. Mass treatment has value in lowering infection prevalence within the community, and clustering of households with infection takes up to 1 year to reemerge at the same level as baseline. Re-treatment at yearly intervals may interrupt spread of infection. (Invest Ophthalmol Vis Sci. 2006;47:99 -104

Attie Islet eQTL data

This is an R compressed binary file. The objects are described in the README

Genetic Drivers of Pancreatic Islet Function.

The majority of gene loci that have been associated with type 2 diabetes play a role in pancreatic islet function. To evaluate the role of islet gene expression in the etiology of diabetes, we sensitized a genetically diverse mouse population with a Western diet high in fat (45% kcal) and sucrose (34%) and carried out genome-wide association mapping of diabetes-related phenotypes. We quantified mRNA abundance in the islets and identified 18,820 expression QTL. We applied mediation analysis to identify candidate causal driver genes at loci that affect the abundance of numerous transcripts. These include two genes previously associated with monogenic diabetes (PDX1 and HNF4A), as well as three genes with nominal association with diabetes-related traits in humans (FAM83E, IL6ST, and SAT2). We grouped transcripts into gene modules and mapped regulatory loci for modules enriched with transcripts specific for α-cells, and another specific for δ-cells. However, no single module enriched for β-cell-specific transcripts, suggesting heterogeneity of gene expression patterns within the β-cell population. A module enriched in transcripts associated with branched-chain amino acid metabolism was the most strongly correlated with physiological traits that reflect insulin resistance. Although the mice in this study were not overtly diabetic, the analysis of pancreatic islet gene expression under dietary-induced stress enabled us to identify correlated variation in groups of genes that are functionally linked to diabetes-associated physiological traits. Our analysis suggests an expected degree of concordance between diabetes-associated loci in the mouse and those found in human populations, and demonstrates how the mouse can provide evidence to support nominal associations found in human genome-wide association mapping. Genetics 2018 May; 209(1):335-356

Data from: Genetic drivers of pancreatic islet function

Nearly all gene loci that have been associated with type 2 diabetes play a role in pancreatic islet function. To evaluate the role of islet gene expression in the etiology of diabetes, we sensitized a genetically diverse mouse population with a Western diet and carried out genome-wide association mapping of diabetes-related phenotypes. We quantified mRNA abundance in the islets, and identified 18,775 expression quantitative trait loci. We applied mediation analysis to identify candidate causal driver genes at loci where numerous transcripts co-map. These include two genes previously associated with monogenic diabetes (PDX1 and HNF4A), as well as three genes with nominal association with diabetes-related traits in humans (FAM83E, IL6ST, and SAT2). We grouped transcripts into gene modules and show that these modules enrich for physiological pathways that also map to distinct loci. We identified and mapped regulatory loci for modules enriched with transcripts specific for α-cells, and another specific for δ-cells. However, no single module enriched for β-cell-specific transcripts, reflecting heterogeneity within the β-cell population. A module enriched in transcripts associated with branched chain amino acid metabolism was the most strongly correlated with clinical traits that reflect insulin resistance. Although the mice in this study were not overtly diabetic, the analysis of pancreatic islet gene expression under dietary-induced stress, enabled us to identify genes and pathways linked to diabetes-associated clinical traits. Our analysis reveals a high degree of concordance between diabetes-associated loci in the mouse with those found in human populations, and demonstrates how the mouse can provide evidence to support nominal associations found in human genome-wide association mapping