High melanocytic nevus count is a strong predictor of melanoma risk. A GWAS of nevus count in Australian adolescent twins identified an association of nevus count with the interferon regulatory factor 4 gene (IRF4 [p = 6 x 10(-9)]). There was a strong genotype-by-age interaction, which was replicated in independent UK samples of adolescents and adults. The rs12203592(*)T allele was associated with high nevus counts and high freckling scores in adolescents, but with low nevus counts and high freckling scores in adults. The rs12203592(*)T increased counts of flat (compound and junctional) nevi in Australian adolescent twins, but decreased counts of raised (intradermal) nevi. In combined analysis of melanoma case-control data from Australia, the UK, and Sweden, the rs12203592(*)C allele was associated with melanoma (odds ratio [OR] 1.15, p = 4 x 10(-3)), most significantly on the trunk (OR = 1.33, p = 2.5 x 10(-5)). The melanoma association was corroborated in a GWAS performed by the GenoMEL consortium for an adjacent SNP, rs872071 (rs872071(*)T: OR 1.14, p = 0.0035; excluding Australian, the UK, and Swedish samples typed at rs12203592: OR 1.08, p = 0.08).
Purpose: To describe and compare associations with macular retinal nerve fiber layer (mRNFL), ganglion cell complex (GCC), and ganglion celleinner plexiform layer (GCIPL) thicknesses in a large cohort.Design: Cross-sectional study.Participants: We included 42 044 participants in the UK Biobank. The mean age was 56 years. Methods: Spectral-domain OCT macular images were segmented and analyzed. Corneal-compensated intraocular pressure (IOPcc) was measured with the Ocular Response Analyzer (Reichert, Corp., Buffalo, NY). Multivariable linear regression was used to examine associations with mean mRNFL, GCC, and GCIPL thicknesses. Factors examined were age, sex, ethnicity, height, body mass index (BMI), smoking status, alcohol intake, Townsend deprivation index, education level, diabetes status, spherical equivalent, and IOPcc.Main Outcome Measures: Thicknesses of mRNFL, GCC, and GCIPL.Results: We identified several novel independent associations with thinner inner retinal thickness. Thinner inner retina was associated with alcohol intake (most significant for GCIPL: e0.46 mm for daily or almost daily intake compared with special occasion only or never [95% confidence interval (CI), 0.61e0.30]; P ¼ 1.1Â10 e8 ), greater social deprivation (most significant for GCIPL: e0.28 mm for most deprived quartile compared with least deprived quartile [95% CI, e0.42 to e0.14]; P ¼ 6.6Â10 e5 ), lower educational attainment (most significant for mRNFL: e0.36 mm for less than O level compared with degree level [95% CI, e0.45 to 0.26]; P ¼ 2.3Â10 e14 ), and nonwhite ethnicity (most significant for mRNFL comparing blacks with whites: e1.65 mm [95% CI, e1.86 to e1.43]; P ¼ 2.4Â10 e50 ). Corneal-compensated intraocular pressure was associated most significantly with GCIPL (e0.04 mm/mmHg [95% CI, e0.05 to e0.03]; P ¼ 4.0Â10 e10 ) and was not associated significantly with mRNFL (0.00 mm/mmHg [95% CI, e0.01 to 0.01]; P ¼ 0.77). The variables examined explained a greater proportion of the variance of GCIPL (11%) than GCC (6%) or mRNFL (7%). Conclusions:The novel associations we identified may be important to consider when using inner retinal parameters as a diagnostic tool. Associations generally were strongest with GCIPL, particularly for IOP. This suggests that GCIPL may be the superior inner retinal biomarker for macular pathophysiologic processes and especially for glaucoma.
Zero electron kinetic energy (ZEKE) spectroscopy is employed to gain information on the vibrational energy levels of the para-fluorotoluene (pFT) cation. Vibrationally resolved spectra are obtained following excitation through a range of intermediate vibrational energy levels in the S1 state. These spectra allow the observation of different cationic vibrational modes, whose assignment is achieved both from a knowledge of the S1 vibrational states and also by comparison with density functional calculations. In one notable case, clean ZEKE spectra were obtained from two overlapped S1 features. From the authors' data, the adiabatic ionization energy of pFT was derived as 70,946+/-4 cm(-1). The information on the cationic energy levels obtained will be useful in untangling the intramolecular vibrational redistribution dynamics of pFT in the S1 state.
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