{"id":4465,"date":"2025-12-17T10:15:55","date_gmt":"2025-12-17T03:15:55","guid":{"rendered":"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/?p=4465"},"modified":"2025-12-17T10:16:51","modified_gmt":"2025-12-17T03:16:51","slug":"investigating-common-mutations-in-atp7b-gene-and-the-prevalence-of-wilsons-disease-in-the-thai-population-using-population-based-genome-wide-datasets","status":"publish","type":"post","link":"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/investigating-common-mutations-in-atp7b-gene-and-the-prevalence-of-wilsons-disease-in-the-thai-population-using-population-based-genome-wide-datasets\/","title":{"rendered":"Investigating common mutations in ATP7B gene and the prevalence of Wilson&#8217;s disease in the Thai population using population-based genome-wide datasets"},"content":{"rendered":"<h2 class=\"title\">Abstract<\/h2>\n<div id=\"eng-abstract\" class=\"abstract-content selected\">\n<div class=\"title\"><\/div>\n<p class=\"chapter-para\">Wilson&#8217;s disease (WD) is a rare metabolic disorder caused by variations in the ATP7B gene. It usually manifests hepatic, neurologic, and psychiatric symptoms due to excessive copper accumulation. The prevalence of WD and its common variants differ across populations. This study aimed to examine these aspects of WD within the Thai population, where information has been limited. We reviewed ClinVar and the Wilson Disease Mutation Database, organizing variants classified as pathogenic or likely pathogenic in one or both databases as &#8220;relaxed&#8221; and &#8220;strict&#8221; lists. Allele frequencies were estimated from genotyping array data (Asian Screening Array: ASA; Illumina Corp, CA) of 6291 Thai subjects, which also underwent genotype imputation. The prevalence of WD in the Thai population was estimated assuming Hardy-Weinberg Equilibrium. The strict list yielded a prevalence of 1\/24,128 (carrier frequency=1\/78), while the relaxed list yielded a prevalence of 1\/9971 (carrier frequency=1\/50). The most common WD variants in Thai subjects were c.2333 G &gt; T, c.3443 T &gt; C, and c.813 C &gt; A from the strict list, and c.3316 G &gt; A and c.2605 G &gt; A from the relaxed list. The ASA chip covered approximately 59 and 24% of WD variants from the strict and relaxed lists, respectively. Based on the estimated prevalence, a carrier screening program for WD is not currently required in Thailand. However, as genotyping services become more affordable and accessible, such a program would facilitate early identification, treatment, and prevention of WD.<\/p>\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39198578\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/39198578\/<\/a><\/p>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Abstract Wilson&#8217;s disease (WD) is a rare metabolic disorder caused by variations in the ATP7B gene. It usually manifests hepatic, neurologic, and psychiatric symptoms due to excessive copper accumulation. The prevalence of WD and its common variants differ across populations. This study aimed to examine these aspects of WD within the Thai population, where information [&#8230;]\n","protected":false},"author":6,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[18],"tags":[],"class_list":["post-4465","post","type-post","status-publish","format-standard","hentry","category-research-innovation-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Investigating common mutations in ATP7B gene and the prevalence of Wilson&#039;s disease in the Thai population using population-based genome-wide datasets - \u0e20\u0e32\u0e04\u0e27\u0e34\u0e0a\u0e32\u0e0a\u0e35\u0e27\u0e40\u0e04\u0e21\u0e35 \u0e04\u0e13\u0e30\u0e41\u0e1e\u0e17\u0e22\u0e28\u0e32\u0e2a\u0e15\u0e23\u0e4c\u0e28\u0e34\u0e23\u0e34\u0e23\u0e32\u0e0a\u0e1e\u0e22\u0e32\u0e1a\u0e32\u0e25 \u0e21\u0e2b\u0e32\u0e27\u0e34\u0e17\u0e22\u0e32\u0e25\u0e31\u0e22\u0e21\u0e2b\u0e34\u0e14\u0e25<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/investigating-common-mutations-in-atp7b-gene-and-the-prevalence-of-wilsons-disease-in-the-thai-population-using-population-based-genome-wide-datasets\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Investigating common mutations in ATP7B gene and the prevalence of Wilson&#039;s disease in the Thai population using population-based genome-wide datasets - \u0e20\u0e32\u0e04\u0e27\u0e34\u0e0a\u0e32\u0e0a\u0e35\u0e27\u0e40\u0e04\u0e21\u0e35 \u0e04\u0e13\u0e30\u0e41\u0e1e\u0e17\u0e22\u0e28\u0e32\u0e2a\u0e15\u0e23\u0e4c\u0e28\u0e34\u0e23\u0e34\u0e23\u0e32\u0e0a\u0e1e\u0e22\u0e32\u0e1a\u0e32\u0e25 \u0e21\u0e2b\u0e32\u0e27\u0e34\u0e17\u0e22\u0e32\u0e25\u0e31\u0e22\u0e21\u0e2b\u0e34\u0e14\u0e25\" \/>\n<meta property=\"og:description\" content=\"Abstract Wilson&#8217;s disease (WD) is a rare metabolic disorder caused by variations in the ATP7B gene. It usually manifests hepatic, neurologic, and psychiatric symptoms due to excessive copper accumulation. The prevalence of WD and its common variants differ across populations. This study aimed to examine these aspects of WD within the Thai population, where information [...]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/investigating-common-mutations-in-atp7b-gene-and-the-prevalence-of-wilsons-disease-in-the-thai-population-using-population-based-genome-wide-datasets\/\" \/>\n<meta property=\"og:site_name\" content=\"\u0e20\u0e32\u0e04\u0e27\u0e34\u0e0a\u0e32\u0e0a\u0e35\u0e27\u0e40\u0e04\u0e21\u0e35 \u0e04\u0e13\u0e30\u0e41\u0e1e\u0e17\u0e22\u0e28\u0e32\u0e2a\u0e15\u0e23\u0e4c\u0e28\u0e34\u0e23\u0e34\u0e23\u0e32\u0e0a\u0e1e\u0e22\u0e32\u0e1a\u0e32\u0e25 \u0e21\u0e2b\u0e32\u0e27\u0e34\u0e17\u0e22\u0e32\u0e25\u0e31\u0e22\u0e21\u0e2b\u0e34\u0e14\u0e25\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/SIBBprogram\/\" \/>\n<meta property=\"article:published_time\" content=\"2025-12-17T03:15:55+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2025-12-17T03:16:51+00:00\" \/>\n<meta name=\"author\" content=\"Poorintra Sakuna\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Poorintra Sakuna\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/investigating-common-mutations-in-atp7b-gene-and-the-prevalence-of-wilsons-disease-in-the-thai-population-using-population-based-genome-wide-datasets\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/investigating-common-mutations-in-atp7b-gene-and-the-prevalence-of-wilsons-disease-in-the-thai-population-using-population-based-genome-wide-datasets\/\"},\"author\":{\"name\":\"Poorintra Sakuna\",\"@id\":\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/#\/schema\/person\/75170c4a414d080cfd0b7428b2e0d11a\"},\"headline\":\"Investigating common mutations in ATP7B gene and the prevalence of Wilson&#8217;s disease in the Thai population using population-based genome-wide datasets\",\"datePublished\":\"2025-12-17T03:15:55+00:00\",\"dateModified\":\"2025-12-17T03:16:51+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/investigating-common-mutations-in-atp7b-gene-and-the-prevalence-of-wilsons-disease-in-the-thai-population-using-population-based-genome-wide-datasets\/\"},\"wordCount\":264,\"publisher\":{\"@id\":\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/#organization\"},\"articleSection\":[\"Research Innovation\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/investigating-common-mutations-in-atp7b-gene-and-the-prevalence-of-wilsons-disease-in-the-thai-population-using-population-based-genome-wide-datasets\/\",\"url\":\"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/en\/investigating-common-mutations-in-atp7b-gene-and-the-prevalence-of-wilsons-disease-in-the-thai-population-using-population-based-genome-wide-datasets\/\",\"name\":\"Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets - 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It usually manifests hepatic, neurologic, and psychiatric symptoms due to excessive copper accumulation. The prevalence of WD and its common variants differ across populations. 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