Central Retinal Artery Occlusion in a Patient with Pseudoxanthoma Elasticum

We examined a patient with central retinal artery occlusion (CRAO) who was diagnosed as having pseudoxanthoma elasticum and exhibited angioid streaks. Echocardiography revealed stenosis and plaques of the right carotid artery. Magnetic resonance imaging (MRI) showed multiple cerebral infarctions, which were considered to be the result of vascular-endothelial abnormalities associated with pseudoxanthoma elasticum. Systemic examination of any plaque which may cause CRAO is recommended

A common variant near TGFBR3 is associated with primary open angle glaucoma

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited.Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution.We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10−33), we observed one SNP showing significant association to POAG (CDC7–TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10−8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

BACKGROUND: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). These observations raise the possibility that common genetic variants with small effect size contribute to the clinical picture of LQTS. This study aimed to characterize and quantify the contribution of common genetic variation to LQTS disease susceptibility. METHODS: We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. We estimated the common variant heritability of LQTS and tested the genetic correlation between LQTS susceptibility and other cardiac traits. Furthermore, we tested the aggregate effect of the 68 single nucleotide polymorphisms previously associated with the QT-interval in the general population using a polygenic risk score. RESULTS: Genome-wide association analysis identified 3 loci associated with LQTS at genome-wide statistical significance (P&lt;5×10-8) near NOS1AP, KCNQ1, and KLF12, and 1 missense variant in KCNE1(p.Asp85Asn) at the suggestive threshold (P&lt;10-6). Heritability analyses showed that ≈15% of variance in overall LQTS susceptibility was attributable to common genetic variation (h2SNP 0.148; standard error 0.019). LQTS susceptibility showed a strong genome-wide genetic correlation with the QT-interval in the general population (rg=0.40; P=3.2×10-3). The polygenic risk score comprising common variants previously associated with the QT-interval in the general population was greater in LQTS cases compared with controls (P&lt;10-13), and it is notable that, among patients with LQTS, this polygenic risk score was greater in patients who were genotype negative compared with those who were genotype positive (P&lt;0.005). CONCLUSIONS: This work establishes an important role for common genetic variation in susceptibility to LQTS. We demonstrate overlap between genetic control of the QT-interval in the general population and genetic factors contributing to LQTS susceptibility. Using polygenic risk score analyses aggregating common genetic variants that modulate the QT-interval in the general population, we provide evidence for a polygenic architecture in genotype negative LQTS.</p

A common variant near TGFBR3 is associated with primary open angle glaucoma

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10−33), we observed one SNP showing significant association to POAG (CDC7–TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10−8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis

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Abstract Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array ), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, OR G-allele = 1.13, P meta = 1.60 × 10 −8 ). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis

Radiocarbon in 9th to 5th Century BC Tree-Ring Samples from the Ouban 1 Archaeological Site, Hiroshima, Japan

From the 19th International Radiocarbon Conference held in Keble College, Oxford, England, April 3-7, 2006.In order to investigate the regional atmospheric radiocarbon offset, accelerator mass spectrometry (AMS) 14C measurements were made on 5-yr increments of a Japanese wood sample dendrochronologically dated to 820-436 BC. The 14C data from the Japanese tree-ring samples were compared with the IntCal04 calibration curve (Reimer et al. 2004). In most parts, the differences between IntCal04 and 14C dates in the Japanese tree-ring samples were within experimental statistical errors. At around 680 BC, however, significant differences of up to 100 14C yr were observed. These differences may indicate either regional offsets in Japan or the short-term fluctuation of a subdecadal timescale in atmospheric 14C variations.The Radiocarbon archives are made available by Radiocarbon and the University of Arizona Libraries. Contact [email protected] for further information.Migrated from OJS platform February 202

Radiocarbon in 9th to 5th Century BC Tree-Ring Samples from the Ouban 1 Archaeological Site, Hiroshima, Japan

From the 19th International Radiocarbon Conference held in Keble College, Oxford, England, April 3-7, 2006.In order to investigate the regional atmospheric radiocarbon offset, accelerator mass spectrometry (AMS) 14C measurements were made on 5-yr increments of a Japanese wood sample dendrochronologically dated to 820-436 BC. The 14C data from the Japanese tree-ring samples were compared with the IntCal04 calibration curve (Reimer et al. 2004). In most parts, the differences between IntCal04 and 14C dates in the Japanese tree-ring samples were within experimental statistical errors. At around 680 BC, however, significant differences of up to 100 14C yr were observed. These differences may indicate either regional offsets in Japan or the short-term fluctuation of a subdecadal timescale in atmospheric 14C variations.The Radiocarbon archives are made available by Radiocarbon and the University of Arizona Libraries. Contact [email protected] for further information.Migrated from OJS platform February 202

Radiocarbon Wiggle-Matching of Japanese Historical Materials with a Possible Systematic Age Offset

From the 19th International Radiocarbon Conference held in Keble College, Oxford, England, April 3-7, 2006.Progress in radiocarbon accelerator mass spectrometry (AMS) techniques enables much more access to wiggle-matching techniques for high-precision 14C dating with relatively low costs than before. Recently, we have applied wiggle-matching for a number of wood samples where dendrochronology is difficult because of various limitations imposed for dendro-dating. In most cases, wiggle-matching gave rather unambiguous calendar ages, but we found that in some cases the calibrated date was very sensitive to a systematic error of the 14C date. Here, we present a wooden artifact from the Ujishigai archaeological site as a case where the highest wiggle-matched date did not agree with the date given by dendrochronology. An age with lower probability agreed with the tree-ring age of AD 389, which marked the beginning of the production of Sue ware (unglazed stoneware) in Japan. We show that systematic errors must be carefully taken into account while interpreting 14C wiggle-matching results, whether they are due to instrumental errors (statistical) or due to a regional offset from the IntCal04 (Reimer et al. 2004) calibration curve.The Radiocarbon archives are made available by Radiocarbon and the University of Arizona Libraries. Contact [email protected] for further information.Migrated from OJS platform February 202

Radiocarbon Wiggle-Matching of Japanese Historical Materials with a Possible Systematic Age Offset

From the 19th International Radiocarbon Conference held in Keble College, Oxford, England, April 3-7, 2006.Progress in radiocarbon accelerator mass spectrometry (AMS) techniques enables much more access to wiggle-matching techniques for high-precision 14C dating with relatively low costs than before. Recently, we have applied wiggle-matching for a number of wood samples where dendrochronology is difficult because of various limitations imposed for dendro-dating. In most cases, wiggle-matching gave rather unambiguous calendar ages, but we found that in some cases the calibrated date was very sensitive to a systematic error of the 14C date. Here, we present a wooden artifact from the Ujishigai archaeological site as a case where the highest wiggle-matched date did not agree with the date given by dendrochronology. An age with lower probability agreed with the tree-ring age of AD 389, which marked the beginning of the production of Sue ware (unglazed stoneware) in Japan. We show that systematic errors must be carefully taken into account while interpreting 14C wiggle-matching results, whether they are due to instrumental errors (statistical) or due to a regional offset from the IntCal04 (Reimer et al. 2004) calibration curve.The Radiocarbon archives are made available by Radiocarbon and the University of Arizona Libraries. Contact [email protected] for further information.Migrated from OJS platform February 202