Browsing by Author "Pankratz, Nathan"
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Item type:Item, Factors Related to Fungiform Papillae Density: The Beaver Dam Offspring Study(2013-10-01) ;Fischer, Mary E. ;Cruickshanks, Karen J. ;Schubert, Carla R. ;Pinto, AlexKlein, RonaldThe distribution of fungiform papillae density and associated factors were examined in the Beaver Dam Offspring Study. Data were from 2371 participants (mean age 48.8 years, range 2184 years) with 1108 males and 1263 females. Fungiform papillae were highlighted with blue food coloring and the number of fungiform papillae within a standard 6-mm circle was counted. Whole mouth suprathreshold taste intensity was measured. The mean fungiform papillae density was 103.5 papillae/cm(2) (range 0212.2 papillae/cm(2)). For each 5-year increase in age, the mean fungiform papillae density was 2.8 papillae/cm(2) lower and the mean density for males was 10.2 papillae/cm(2) lower than for females. Smokers had significantly lower mean densities (former smokers: 5.1 papillae/cm(2); current smokers: 9.3 papillae/cm(2)) than nonsmokers, and heavy alcohol drinkers had a mean density that was 4.7 papillae/cm(2) lower than nonheavy drinkers. Solvent exposure was related to a significantly higher density (6.8 papillae/cm(2)). The heritability estimate for fungiform papillae density was 40.2%. Propylthiouracil taster status, TAS2R38 haplotype, and perceived taste intensity were not related to density. In summary, wide variability in fungiform papillae density was observed and a number of related factors were found including the modifiable factors of smoking and alcohol consumption.Item type:Item, Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height(2011-01-07) ;Lanktree, Matthew B. ;Guo, Yiran ;Murtaza, Muhammed ;Glessner, Joseph T.Bailey, Swneke D.Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 x 10(-6)), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 x 10(-8)). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 x 10(-11)). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait.Item type:Item, Odor identification and cognitive function in the Beaver Dam Offspring Study(2013-08-19) ;Schubert, Carla R. ;Cruickshanks, Karen J. ;Fischer, Mary E. ;Huang, Guan-HuaKlein, RonaldOlfactory impairment is associated with cognitive impairment in older adults but less is known about the association of olfactory impairment and cognitive function in middle-aged adults. The association between olfactory impairment and cognitive function tests of attention, processing speed, and executive and psychomotor function was explored in 2837 participants (21-84 years; mean age 49 years) in the Beaver Dam Offspring Study. Among middle-aged participants (aged 35-64 years), those with impairment on an odor identification test took significantly longer to complete the Trail Making Test (TMT-A and TMT-B) and the Grooved Peg Board (GPB) test, than those without olfactory impairment in regression models adjusted for multiple factors. Similar results were found for the TMT-A and TMT-B, but not the GPB, in the whole cohort. Olfactory impairment was associated with poorer performance on cognitive function tests in a primarily middle-aged cohort.Item type:Item, The Associations between 6-n-Propylthiouracil (PROP) Intensity and Taste Intensities Differ by TAS2R38 Haplotype(2014-01-01) ;Fischer, Mary E. ;Cruickshanks, Karen J. ;Pankow, James S. ;Pankratz, NathanSchubert, Carla R.Background/Aims: The influence of TAS2R38 haplotype on the relationship between the perceived intensity of propylthiouracil (PROP) and the basic tastes of salt, sweet, sour, and bitter (quinine) was evaluated in the Beaver Dam Offspring Study. Methods: Genotyping was performed on 1,670 participants aged >= 45 years (mean age = 54.4; range = 45-84), and supra-threshold taste intensity was measured using filter paper disks and a general labeled magnitude scale (0-100). Results: Among those with taste intensity data and the PAV or AVI haplotype (n = 1,258), the mean perceived intensity of PROP was 37.3 (SD = 30.0), but it varied significantly (p < 0.0001) by diplotype (PAV/PAV = 60.1; PAV/AVI = 46.5; AVI/AVI = 14.4). PROP intensity was correlated with the basic taste intensities (salt: r = 0.22; sweet: r = 0.25; sour: r = 0.21; quinine bitterness: r = 0.38; p < 0.001 for all tastes); however, a significant effect modification of the PROP-taste intensity relationships by TAS2R38 diplotype was observed. There was a stronger association between PROP and each of the basic tastes in the PAV/PAV diplotype group than in the other groups. Conclusions: Directly measuring the perceived intensity of the 4 tastes, rather than using PROP intensity as an indicator of taste responsiveness, is recommended for studies of taste perception. (C) 2015 S. Karger AG, Basel