Medical Sciences Commons^™

A Large Genome-Wide Association Study Of Age-Related Macular Degeneration Highlights Contributions Of Rare And Common Variants, Lars G. Fritsche, Wilmar Igl, Jessica N. Cooke Bailey, Felix Grassmann, Sebanti Sengupta, Jennifer L. Bragg-Gresham, Kathryn P. Burdon, Scott J. Hebbring, Matthew P. Johnson, John Blangero

School of Medicine Publications

Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly with limited therapeutic options. Here, we report on a study of >12 million variants including 163,714 directly genotyped, most rare, protein-altering variant. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5×10–8) distributed across 34 loci. While wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first signal specific to wet AMD, near MMP9 (difference-P = 4.1×10–10). Very rare coding variants (frequency < 0.1%) in CFH, CFI, and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate …

Lipidomic Risk Score Independently And Cost-Effectively Predicts Risk Of Future Type 2 Diabetes: Results From Diverse Cohorts, Manju Mamtani, Hemant Kulkarni, Gerard Wong, Jacquelyn M. Weir, Christopher K. Barlow, Thomas D. Dyer, Laura Almasy, Michael C. Mahaney, Anthony G. Comuzzie, David C. Glahn, Sarah Williams-Blangero, Ravindranath Duggirala, John Blangero, Joanne E. Curran

School of Medicine Publications

Background: Detection of type 2 diabetes (T2D) is routinely based on the presence of dysglycemia. Although disturbed lipid metabolism is a hallmark of T2D, the potential of plasma lipidomics as a biomarker of future T2D is unknown. Our objective was to develop and validate a plasma lipidomic risk score (LRS) as a biomarker of future type 2 diabetes and to evaluate its cost-effectiveness for T2D screening.

Methods: Plasma LRS, based on significantly associated lipid species from an array of 319 lipid species, was developed in a cohort of initially T2D-free individuals from the San Antonio Family Heart Study (SAFHS). The …

Occupational Deprivation Or Occupational Adaptation Of Mexican Americans On Renal Dialysis, Shirley A. Wells

Occupational Therapy Faculty Publications

The aim of this study was to explore the occupational changes and perceptions experienced by Mexican Americans with end-stage renal disease (ESRD) and their families living with dialysis. In-depth interviews were conducted with 17 Mexican Americans with ESRD and 17 family members. The participants with ESRD described altered or lost activity patterns, capacities and freedoms. With a heightened awareness of death, the family members made altered occupational choices, which were consistent with their cultural values. Changes in the physical body, adhering to the dialysis regimen and environmental restrictions created barriers to occupational participation. These findings suggest that living with dialysis …

Shared Genetic Variance Between Obesity And White Matter Integrity In Mexican Americans, Elena A. Spieker, Peter Kochunov, Laura M. Rowland, Emma Sprooten, Anderson M. Winkler, Rene L. Olvera, Laura Almasy, Ravi Duggirala, Peter T. Fox, John Blangero, David C. Glahn, Joanne E. Curran

School of Medicine Publications

Obesity is a chronic metabolic disorder that may also lead to reduced white matter integrity, potentially due to shared genetic risk factors. Genetic correlation analyses were conducted in a large cohort of Mexican American families in San Antonio (N = 761, 58% females, ages 18–81 years; 41.3 ± 14.5) from the Genetics of Brain Structure and Function Study. Shared genetic variance was calculated between measures of adiposity [(body mass index (BMI; kg/m2) and waist circumference (WC; in)] and whole-brain and regional measurements of cerebral white matter integrity (fractional anisotropy). Whole-brain average and regional fractional anisotropy values for 10 major …

Comparative Toxicities Of Aminonitriles, Timothy Lester Lacy

Theses and Dissertations - UTB/UTPA

This study examined the comparative toxicities and metabolism of four selected aminonitriles namely aminoacetonitrile, $\beta$-aminopropionitrile, $N,N\sp\prime$-dimethylaminopropionitrile, and $\beta ,\beta\sp\prime$-iminodipropionitrile. Various experiments in this study include time course of the metabolism of these nitriles to cyanide, thiocyanate, and cyanoacetic acid. All of the nitriles studied were metabolized to cyanide and thiocyanate and the levels of these metabolites remained at a significantly high level even 5 days after dosing. Except aminoacetonitrile all the nitriles were metabolized to cyanoacetic acid. Experiments on the role of vehicles on the toxicity and metabolism of nitriles showed that all of the vehicles studied significantly affected nitrile …

A Retrospective Survey Of Human Birth Defects As Recorded At Mcallen General Hospital In Mcallen, Texas, 1962-1972, Deana Brown

Theses and Dissertations - UTB/UTPA

Consecutive medical records of 10,622 births were viewed, January, 1962, through December, 1972, from McAllen General Hospital, McAllen, Texas. The overall incidence of birth defects was consistent with rates for the United States. Birth defects detected in Spanish surnamed were significantly higher than for non-Spanish surnamed. Spanish surnamed bore eight times more defects of the central nervous system than non Spanish surnamed. Males had significantly more defects than females, and had almost seven times more defects of the urogenital system. The most distinctive feature of this survey was the high incidence of atelectasis. Of all defective liveborn, over half had …