Data - GWAS for Fiber Diameter in Alpacas
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ABSTRACT:
ORGANISM(S): Vicugna pacos
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PROVIDER: S-BSST1186 | biostudies-other |
REPOSITORIES: biostudies-other
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Project description:BackgroundAltered fibrin fiber structure is linked to pathologic states, including coronary heart disease, ischemic stroke, and atherosclerosis. However, several different techniques are commonly utilized for studying fibrin structures, and comparison of results obtained using different techniques can be challenging due to lack of standardization.ObjectivesThis study provides a path toward standardization by comparing fibrin fiber diameters for a range of physiologic fibrinogen and thrombin concentrations using multiple different complementary experimental methods.MethodsWe determined fiber diameter using scanning electron microscopy (SEM), superresolution (stochastic optical reconstruction microscopy) fluorescence microscopy, and 4 commonly utilized turbidimetric approaches to determine the congruence between the results and the conditions under which each should be used.ResultsWe found that diameter values obtained using SEM and superresolution imaging agree within 10% for nearly all conditions tested. We also found that when a wavelength range of 500 to 800 nm was used for measurements and accounting for the wavelength dependence of the refractive index and specific refractive index increment, diameters obtained using the corrected Yeromonahos turbidimetric approach agree with SEM within 20% for most conditions.ConclusionWe performed a systematic, multitechnique survey assessing fibrin fiber diameters under a range of biochemical conditions. The similarity in the diameter values obtained using SEM and superresolution imaging suggests that drying and fixation during SEM sample preparation do not dramatically alter fiber cross-sections. Congruence, under certain conditions, between diameter values obtained using SEM, superresolution fluorescence imaging, and turbidimetry demonstrates the feasibility of a fibrin diameter standardization project.
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Project description:BackgroundTo develop and evaluate a diffusion MRI-based apparent muscle fiber diameter (AFD) method in patients with muscle denervation. It was hypothesized that AFD differences between denervated, non-denervated and control muscles would be greater than those from standard diffusion metrics.MethodsA spin-echo diffusion acquisition with multi-b-valued diffusion sampling was used. An orientation-invariant dictionary approach utilized a cylinder-based forward model and multi-compartment model for obtaining restricted and free fractions. Simulations were performed to determine precision, bias, and optimize dictionary parameters. In all, 18 exams of patients with muscle denervation and 8 exams of healthy subjects were performed at 3T. Six regions of interests (ROIs) within separate shoulder muscles were selected, yielding three groups consisting 47 control (healthy), 36 non-denervated (patients), and 68 denervated (patients) muscle ROIs. Two-sample t-tests (α=0.05) between groups were performed with Holm-Bonferroni correction. T2- and fat fraction (FF)-mapping were acquired for comparison.ResultsMean AFD was 89.7±13.6 µm in control, 71.6±15.3 µm in non-denervated, and 60.7±15.9 µm in denervated muscles and were significantly different (P<0.001) in paired comparisons and in 10/12 individual muscle region comparisons. Correlation between AFD and FF (-0.331, P<0.001) was low, but correlation between FA and FF was negligible (0.197, P=0.016). Correlation was low between AFD and T2 (-0.395, P<0.001) and between FA and T2 (0.359, P<0.001).ConclusionsDiffusion MRI-based AFD complements T2- and FF-mapping techniques to non-invasively assess muscle denervation.
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Project description:The aim of this study was the identification of candidate genomic regions associated with fiber diameter in alpacas. DNA samples were collected from 1011 female Huacaya alpacas from two geographical Andean regions in Peru (Pasco and Puno), and three alpaca farms within each region. The samples were genotyped using an Affymetrix Custom Alpaca genotyping array containing 76,508 SNPs. After the quality controls, 960 samples and 51,742 SNPs were retained. Three association study methodologies were performed. The GWAS based on a linear model allowed us to identify 11 and 35 SNPs (-log10(p-values) > 4) using information on all alpacas and alpacas with extreme values of fiber diameter, respectively. The haplotype and marker analysis method allowed us to identify nine haplotypes with standardized haplotype heritability higher than six standard deviations. The selection signatures based on cross-population extended haplotype homozygosity (XP-EHH) allowed us to identify 180 SNPs with XP-EHH values greater than |3|. Four candidate regions with adjacent SNPs identified via two association methods of analysis are located on VPA6, VPA9, VPA29 and one chromosomally unassigned scaffold. This study represents the first analysis of alpaca whole genome association with fiber diameter, using a recently assembled alpaca SNP microarray.
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