56 research outputs found

    Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

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    Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article

    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

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    Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition

    Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

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    Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = -0.62, P = 5.30 × 10-5) but not between CCT and primary open-angle glaucoma (r = -0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation

    The Geologic Record of Wind Erosion, Eolian Deposition, and Aridity on the Southern High Plains

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    Evidence of wind erosion, accumulation of airborne sediments, and drought is preserved on the Southern High Plains. Eolian deposition in the Holocene concentrated between 6000 and 4500 years ago. The Blackwater Draw Formation indicates episodic wind erosion and deposition in the past 1.6 million years. The Ogallala Formation suggests a vast, sandy eolian plain accumulated episodically between 4 and 11 million years. Warmer and drier conditions predicted for the region in a globally-warmer climate will thus be superimposed upon prevailing characteristics of wind and relative aridity that have dominated recent geologic time

    Problematic dating of claimed Younger Dryas boundary impact proxies

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    Origin of late Quaternary dune fields on the Southern High Plains of Texas and New Mexico

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    Mostly stabilized late Holocene eolian sands on the Southern High Plains of the United States were studied to determine their origins and to assess whether present dune stability depends more strongly on sediment supply, sediment availability, or transport limitations. Geomorphic, sedimentological, and geochemical trends indicate that late Holocene dunes formed under westerly paleowinds, broadly similar to those of today. Mineralogical and geochemical data indicate that the most likely source for the sands is not the Pecos River valley, but the Pleistocene Blackwater Draw Formation, an older, extensive eolian deposit in the region. These observations suggest that new sand is supplied whenever vegetation cover is diminished to the extent that the Blackwater Draw Formation can be eroded, in agreement with modern observations of wind erosion in the region. We conclude, therefore, that Southern High Plains dunes are stabilized primarily due to a vegetation cover. The dunes are thus sediment-availability limited. This conclusion is consistent with the observation that, in the warmest, driest part of the region (where vegetation cover is minimal), dunes are currently active over a large area. Geochemical data indicate that Southern High Plains dunes are the most mineralogically mature (quartz rich) sands yet studied in the Great Plains, which suggests a long history of eolian activity, either in the dune fields or during deposition of the Blackwater Draw Formation
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