{"id":1290,"date":"2024-12-06T14:04:08","date_gmt":"2024-12-06T06:04:08","guid":{"rendered":"https:\/\/antuobang.shchildren.com.cn\/?p=1290"},"modified":"2024-12-10T14:08:56","modified_gmt":"2024-12-10T06:08:56","slug":"2022%e5%b9%b4%e4%b8%8etourette%e7%bb%bc%e5%90%88%e5%be%81%e7%9b%b8%e5%85%b3%e7%9a%84%e7%a0%94%e7%a9%b6%e7%9a%84%e4%ba%ae%e7%82%b9%e5%88%86%e4%ba%ab-%e9%81%97%e4%bc%a0%e5%ad%a6%e5%92%8c","status":"publish","type":"post","link":"https:\/\/antuobang.shchildren.com.cn\/?p=1290","title":{"rendered":"2022\u5e74\u4e0eTourette\u7efc\u5408\u5f81\u76f8\u5173\u7684\u7814\u7a76\u7684\u4eae\u70b9\u5206\u4eab\u2014\u9057\u4f20\u5b66\u548c\u8868\u89c2\u9057\u4f20\u5b66"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"1290\" class=\"elementor elementor-1290\">\n\t\t\t\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-1de7e883 elementor-section-full_width elementor-section-height-default elementor-section-height-default\" data-id=\"1de7e883\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-3306f3e4\" data-id=\"3306f3e4\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t\t\t<div class=\"elementor-element elementor-element-50090def elementor-widget elementor-widget-text-editor\" data-id=\"50090def\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t<style>\/*! elementor - v3.14.0 - 18-06-2023 *\/\n.elementor-widget-text-editor.elementor-drop-cap-view-stacked .elementor-drop-cap{background-color:#69727d;color:#fff}.elementor-widget-text-editor.elementor-drop-cap-view-framed .elementor-drop-cap{color:#69727d;border:3px solid;background-color:transparent}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap{margin-top:8px}.elementor-widget-text-editor:not(.elementor-drop-cap-view-default) .elementor-drop-cap-letter{width:1em;height:1em}.elementor-widget-text-editor .elementor-drop-cap{float:left;text-align:center;line-height:1;font-size:50px}.elementor-widget-text-editor .elementor-drop-cap-letter{display:inline-block}<\/style>\t\t\t\t<p><!-- wp:paragraph --><\/p>\n<p>\u4f5c\u8005\uff1a\u738b\u6625\u6885&nbsp; \u4e0a\u6d77\u5e02\u513f\u7ae5\u533b\u9662\u795e\u7ecf\u5185\u79d1\u4e3b\u6cbb\u533b\u5e08<\/p>\n<p>\u5927\u5bb6\u597d\uff01\u5c0f\u524d\u6cbf\u53c8\u548c\u5927\u5bb6\u89c1\u9762\u4e86\uff0c\u672c\u671f\u7ee7\u7eed\u5206\u4eab2023\u5e7410\u6708\u53d1\u8868\u5728F1000Research\u5e73\u53f0\u7684\u4e00\u7bc7\u7efc\u8ff0\u300aTourette syndrome research highlights from 2022\u300b\u3002\u524d\u51e0\u671f\u4ece\u6d41\u884c\u75c5\u5b66\u3001\u81ea\u7136\u53f2\u7b49\u65b9\u9762\u8ddf\u5927\u5bb6\u5206\u4eab\uff0c\u4eca\u5929\u6211\u4eec\u4e3b\u8981\u4ece\u9057\u4f20\u548c\u8868\u89c2\u9057\u4f20\u5b66\u4e0a\u8ddf\u5927\u5bb6\u4e00\u8d77\u5206\u4eab\u3002<\/p>\n<p><!-- \/wp:paragraph --><\/p>\n<p><!-- wp:paragraph --><\/p>\n<p><b>\u9057\u4f20\u5b66\u548c\u8868\u89c2\u9057\u4f20\u5b66<\/b><\/p>\n<p><!-- \/wp:paragraph --><\/p>\n<p><!-- wp:paragraph --><\/p>\n<p>\u5ed6\u548c\u4ed6\u7684\u540c\u4e8b\u4eec\u4f7f\u7528\u4e4b\u524d\u53d1\u8868\u7684TS GWAS2\uff08Yuet al. 2019\uff09\uff084819\u4f8bTS\u75c5\u4f8b\u548c9488\u4f8b\u5bf9\u7167\uff09\u548cCommonMind \u8054\u76df\u4ee5\u53ca\u6765\u81eaGTEx 53 v7\u8111\u7ec4\u7ec7\u6807\u672c\u8fdb\u884c\u4e86\u4e00\u9879\u8f6c\u5f55\u7ec4\u5e7f\u6cdb\u5173\u8054\u7814\u7a76\uff08TWAS\uff09\u3002\u8fd9\u4e9b\u6570\u636e\u4e2d\u6700\u70ed\u70b9\u7684\u57fa\u56e0\u662fFLT3\u57fa\u56e0\uff08\u5b83\u53c2\u4e0e\u9020\u8840\u3001\u708e\u75c7\u3001\u514d\u75ab\u529f\u80fd\uff09\uff0c\u5728\u80cc\u5916\u4fa7\u524d\u989d\u53f6\u76ae\u5c42\u8868\u8fbe\u589e\u52a0\u3002\u5b83\u8fd8\u8868\u8fbe\u4e8e\u5927\u8111\u5176\u5b83\u533a\u57df\uff08\u76ae\u5c42\u3001\u6d77\u9a6c\u4f53\u3001\u524d\u6263\u5e26\u76ae\u5c42\u3001\u989d\u53f6\u76ae\u5c42\u3001\u5c0f\u8111\u548c\u5c0f\u8111\u534a\u7403\uff09\u3002\u901a\u8fc7\u7cbe\u7ec6\u5b9a\u4f4d\u5206\u6790\uff0cFLT3\u57fa\u56e0 \u4e5f\u88ab\u8ba4\u4e3a\u662f TWAS \u533a\u57df\u57fa\u56e0\u4e2d\u7684\u81f4\u75c5\u57fa\u56e0\u3002\u57fa\u4e8eTWAS\u5206\u6790\uff0c\u4f5c\u8005\u53d1\u73b0\u4e86\u53e6\u5916 3 \u4e2a\u4e0e TS \u76f8\u5173\u7684\u57fa\u56e0 \uff08MPHOSPH9\u3001FIP1L1 \u548c CSGALNACT2\uff09\uff0c\u5b83\u4eec\u4e5f\u53c2\u4e0e\u514d\u75ab\u8fc7\u7a0b\u3002<\/p>\n<p><!-- \/wp:paragraph --><\/p>\n<p><!-- wp:paragraph --><\/p>\n<p>Grotzinger \u53ca\u5176\u540c\u4e8b\uff08Grotzinger et al. 2022\uff09\u5206\u6790\u4e86\u6b27\u6d32\u4eba\u7fa4\u516c\u5f00\u53ef\u7528\u7684 GWAS \u6570\u636e\u7684 11 \u79cd\u7cbe\u795e\u7279\u5f81\uff0c\u5305\u62ec TS\uff0c\u76ee\u7684\u662f\u4ece\u751f\u7269\u884c\u4e3a\u3001\u529f\u80fd\u57fa\u56e0\u7ec4\u548c\u5206\u5b50\u9057\u4f20\u6c34\u5e73\u4e0a\u7814\u7a76\u5b83\u4eec\u7684\u9057\u4f20\u7ed3\u6784\u3002\u9996\u5148\uff0c\u4ed6\u4eec\u8fdb\u884c\u4e86\u9057\u4f20\u76f8\u5173\u6027\u548c\u57fa\u56e0\u7ec4\u7ed3\u6784\u5efa\u6a21 \uff08SEM\uff09 \u6765\u63a2\u7d22\u6240\u7814\u7a76\u7684\u6027\u72b6\u5982\u4f55\u9057\u4f20\u5730\u805a\u96c6\u3002TS\u3001\u795e\u7ecf\u6027\u538c\u98df\u75c7 \uff08AN\uff09 \u548c \u5f3a\u8feb\u75c7\uff08OCD\uff09 \u53d1\u73b0\u805a\u96c6\u5728\u4e00\u4e2a\u56e0\u5b50\u4e2d\u3002TS \u4e5f\u662f\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u96c6\u7fa4\u7684\u4e00\u90e8\u5206\uff0c\u4e3b\u8981\u7531 ADHD \u548c ASD \u7ec4\u6210\uff0c\u4f46\u4e5f\u5305\u62ec\u91cd\u5ea6\u6291\u90c1\u75c7\u3001\u521b\u4f24\u540e\u5e94\u6fc0\u969c\u788d \uff08PTSD\uff09 \u548c\u9152\u7cbe\u6ee5\u7528\u3002\u4f5c\u8005\u8fd8\u8fdb\u884c\u4e86\u989d\u5916\u7684\u5206\u6790\uff0c\u4ee5\u786e\u5b9a\u5df2\u8bc6\u522b\u7684\u7c07\u4e0e\u5176\u4ed6\u8868\u578b\u4e4b\u95f4\u7684\u76f8\u5173\u6027\uff0c\u5305\u62ec\u751f\u7269\u884c\u4e3a\u7279\u5f81\u3001\u5927\u8111\u5f62\u6001\u548c\u663c\u591c\u8282\u5f8b\u6d3b\u52a8\u3002\u4ed6\u4eec\u5bf9\u6240\u6709\u7cbe\u795e\u75c5\u5b66\u7279\u5f81\u8fdb\u884c\u4e86\u4ea4\u53c9\u5206\u6790\uff0c\u5e76\u5728\u6bcf\u4e2a\u56e0\u7d20\u5185\u786e\u5b9a\u4e86\u5171\u540c\u7684\u9057\u4f20\u98ce\u9669\u53d8\u5f02\u3002\u4ed6\u4eec\u5728\u5f3a\u8feb\u75c7\u56e0\u5b50\u4e2d\u53d1\u73b0\u4e86\u4e00\u4e2a\u8de8\u75be\u75c5\u5171\u4eab\u7684\u6613\u611f\u6027\u4f4d\u70b9\uff0c\u548c9\u4e2a\u5171\u4eab\u57fa\u56e0\u5ea7\u7684\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u56e0\u5b50\uff0c\u5176\u4e2d\u4e24\u4e2a\u662f\u65b0\u53d1\u73b0\u7684\u70ed\u95e8\u4f4d\u70b9\uff0c\u4f46\u5728\u5355\u4e2a GWAS \u4e2d\u4e0d\u663e\u8457\u3002<\/p>\n<p><!-- \/wp:paragraph --><\/p>\n<p><!-- wp:paragraph --><\/p>\n<p>Tetsos\u53ca\u5176\u540c\u4e8b\u8fdb\u884c\u4e86\u8fc4\u4eca\u4e3a\u6b62\u6700\u5927\u7684\u62bd\u52a8\u79fd\u8bed\u7efc\u5408\u5f81GWAS\u5206\u6790\uff0c\u51716133\u4f8bTS\u75c5\u4f8b\u548c13565\u540d\u5bf9\u7167\u7ec4\uff0c\u4ed6\u4eec\u5728\u5168\u57fa\u56e0\u7ec45 \u53f7\u67d3\u8272\u4f53\u4e0a\u53d1\u73b0\u4e86\u4e00\u4e2a\u65b0\u7684\u4f4d\u70b9\uff0c\u5b83\u9760\u8fd1 NR2F1-AS1 \u57fa\u56e0\u3002\u52a8\u7269\u7814\u7a76\u8868\u660e\uff0cNR2F1-AS1\u7684\u7a81\u53d8\u5728\u795e\u7ecf\u53d1\u80b2\u4e2d\u81f3\u5173\u91cd\u8981\uff0c\u5728\u4eba\u7c7b\u4e2d\uff0c\u8fd9\u4e2a\u4f4d\u70b9\u7684\u7a81\u53d8\u4f1a\u5bfc\u81f4\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u6216\u89c6\u795e\u7ecf\u840e\u7f29\u3002 eQTL \u548c GWAS\u7684 Hi-C \uff08\u9ad8\u901a\u91cf\u67d3\u8272\u4f53\u6784\u8c61\u6355\u83b7\uff09 \u6570\u636e\u5206\u6790\u4e5f\u652f\u6301\u8be5\u57fa\u56e0\u4f4d\u70b9\u7a81\u53d8\u3002\u63a2\u7d22 TS\u591a\u57fa\u56e0\u98ce\u9669\u8bc4\u5206\u4e0e\u8111\u5bb9\u91cf\u6570\u636e\u5173\u8054\u7814\u7a76\u63d0\u793a\u4e0e\u5de6\u53f3\u4e18\u8111\u4f53\u79ef\u548c\u53f3\u4fa7\u58f3\u6838\u4f53\u79ef\u4e4b\u95f4\u5b58\u5728\u7edf\u8ba1\u5b66\u4e0a\u7684\u663e\u8457\u76f8\u5173\u6027\u3002<\/p>\n<p><!-- \/wp:paragraph --><\/p>\n<p><!-- wp:paragraph --><\/p>\n<p>Jain\u53ca\u5176\u540c\u4e8b\u4f7f\u7528\u4e4b\u524d\u7684 TS GWAS \u6c47\u603b\u7edf\u8ba1\u6570\u636e\uff08Tsetsos et al. 2023\uff09\u6765\u8ba1\u7b97\u82f1\u56fd\u751f\u7269\u5e93\u4e2d\u4e2a\u4f53\u7684 TS \u591a\u57fa\u56e0\u98ce\u9669\u8bc4\u5206 \uff08PRS\uff09\uff0c\u7136\u540e\u8fdb\u884c\u8868\u578b\u7ec4\u5bbd\u5173\u8054\u7814\u7a76 \uff08PheWAS\uff09 \u4ee5\u8bc4\u4f30 TS \u9057\u4f20\u98ce\u9669\u4e0e\u591a\u79cd\u8868\u578b\u7684\u5173\u8054 \uff08n = 2242\uff09 \uff08Jain et al.2023\uff09\u3002\u4ed6\u4eec\u89c2\u5bdf\u5230\u4e0e57\u79cd\u4e34\u5e8a\u7279\u5f81\u76f8\u5173\u8054\uff0c\u5305\u62ec\u7126\u8651\u75c7\u3001\u6291\u90c1\u75c7\u30012 \u578b\u7cd6\u5c3f\u75c5\u3001\u5fc3\u60b8\u548c\u547c\u5438\u7cfb\u7edf\u75be\u75c5\u3002\u4ed6\u4eec\u8fd8\u5bf9 PheWAS \u7ed3\u679c\u4e0e ADHD \u3001 ASD \u548c OCD \u8fdb\u884c\u4e86\u4ea4\u53c9\u969c\u788d\u6bd4\u8f83\u3002\u4ed6\u4eec\u53d1\u73b0\u4e00\u79cd\u6a21\u5f0f\uff0c\u5373\u4e0e TS \u76f8\u5173\u7684\u8868\u578b\u4e0e ADHD \u548c ASD \u7684\u5f71\u54cd\u65b9\u5411\u76f8\u4f3c\uff0c\u4f46\u5728\u5927\u591a\u6570\u60c5\u51b5\u4e0b\uff0c\u9664\u4e86\u5fc3\u7406\u5065\u5eb7\u56e0\u7d20\u5916\uff0c\u4e0e\u5f3a\u8feb\u75c7\u7684\u65b9\u5411\u76f8\u53cd\u3002\u6b64\u5916\uff0c\u4ed6\u4eec\u8fdb\u884c\u4e86\u6027\u522b\u7279\u5f02\u6027 PheWAS\uff0c\u5e76\u89c2\u5bdf\u5230\u5728TS\u75c5\u4eba\u4e2d 2 \u578b\u7cd6\u5c3f\u75c5\u548c\u5fc3\u60b8\u4e0e\u7537\u6027\u76f8\u5173\uff0c\u800c\u4e0e\u5973\u6027\u5219\u4e0d\u76f8\u5173\uff0c\u800cTS\u75c5\u4eba\u4e2d\u547c\u5438\u7cfb\u7edf\u75be\u75c5\u4e0e\u5973\u6027\u76f8\u5173\uff0c\u4f46\u4e0e\u7537\u6027\u5219\u4e0d\u76f8\u5173\u3002<\/p>\n<p><!-- \/wp:paragraph --><\/p>\n<p><!-- wp:paragraph --><\/p>\n<p>Ryan \u53ca\u5176\u540c\u4e8b\u4f7f\u7528\u6765\u81ea\u54e5\u65af\u8fbe\u9ece\u52a0\u5bb6\u5ead\u6269\u5c55\u5bb6\u7cfb\u7684 19\u4e2a\u4eba\uff0817 \u4e2a\u53d7 TS \u5f71\u54cd\u548c 2 \u4e2a\u5bf9\u7167\uff09\u7684\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f \uff08WGS\uff09\u6570\u636e\u8fdb\u884c\u4e86\u8840\u7edf\u8eab\u4efd \uff08IBD\uff09\u5206\u6790\uff08Ryan et al. 2022\uff09\u3002 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