{"id":4777,"date":"2025-12-18T09:39:19","date_gmt":"2025-12-18T02:39:19","guid":{"rendered":"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/?p=4777"},"modified":"2026-03-30T09:43:39","modified_gmt":"2026-03-30T02:43:39","slug":"single-cell-rna-sequencing-of-peripheral-blood-links-cell-type-specific-regulation-of-splicing-to-autoimmune-and-inflammatory-diseases","status":"publish","type":"post","link":"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/single-cell-rna-sequencing-of-peripheral-blood-links-cell-type-specific-regulation-of-splicing-to-autoimmune-and-inflammatory-diseases\/","title":{"rendered":"Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and inflammatory diseases"},"content":{"rendered":"<p>Chi Tian, Yuntian Zhang, Yihan Tong, Kian Hong Kock, Donald Yuhui Sim, Fei Liu, Jiaqi Dong, Zhixuan Jing, Wenjing Wang, Junbin Gao, Le Min Tan, Kyung Yeon Han, Yoshihiko Tomofuji, Masahiro Nakano, Eliora Violain Buyamin, Radhika Sonthalia, Yoshinari Ando, Hiroaki Hatano, Kyuto Sonehara; Asian Immune Diversity Atlas Network; Xin Jin, Marie Loh, John Chambers, Chung-Chau Hon, Murim Choi, Jong-Eun Park, Kazuyoshi Ishigaki, Tomohisa Okamura, Keishi Fujio, Yukinori Okada, Woong-Yang Park, Jay W Shin, Xavier Roca, Shyam Prabhakar, Boxiang Liu<\/p>\n<p>\n<strong>Collaborators<\/strong><br \/>\n<strong> Asian Immune Diversity Atlas Network<\/strong> : <strong> Varodom Charoensawan<\/strong>, Partha P Majumder, Ponpan Matangkasombut, Piero Carninci, John C Chambers, Manop Pithukpakorn, Bhoom Suktitipat, Kazuhiko Yamamoto, Deepa Rajagopalan, Nirmala Arul Rayan, Shvetha Sankaran, Juthamard Chantaraamporn, Ankita Chatterjee, Supratim Ghosh, Damita Jevapatarakul, Sarintip Nguantad, Sumanta Sarkar, Narita Thungsatianpun, Mai Abe, Seiko Furukawa, Gyo Inoue, Keiko Myouzen, Jin-Mi Oh, Akari Suzuki, Miki Kojima, Tsukasa Kouno, Jinyeong Lim, Arindam Maitra, Prasanna Nori Venkatesh, Quy Xiao Xuan Lin, Jonathan Moody\n<\/p>\n<h2 class=\"title\">Abstract<\/h2>\n<div id=\"eng-abstract\" class=\"abstract-content selected\">\n<div class=\"title\">\n<p>Alternative splicing contributes to complex traits, but whether this differs in trait-relevant cell types across diverse genetic ancestries is unclear. Here we describe cell-type-specific, sex-biased and ancestry-biased alternative splicing in ~1 M peripheral blood mononuclear cells from 474 healthy donors from the Asian Immune Diversity Atlas. We identify widespread sex-biased and ancestry-biased differential splicing, most of which is cell-type-specific. We identify 11,577 independent cis-splicing quantitative trait loci (sQTLs), 607 trans-sGenes and 107 dynamic sQTLs. Colocalization between cis-eQTLs and trans-sQTLs revealed a cell-type-specific regulatory relationship between HNRNPLL and PTPRC. We observed an enrichment of cis-sQTL effects in autoimmune and inflammatory disease heritability. Specifically, we functionally validated an Asian-specific sQTL disrupting the 5&#8242; splice site of TCHP exon 4 that putatively modulates the risk of Graves&#8217; disease in East Asian populations. Our work highlights the impact of ancestral diversity on splicing and provides a roadmap to dissect its role in complex diseases at single-cell resolution.<\/p>\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39627432\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/39627432\/<\/a><\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Chi Tian, Yuntian Zhang, Yihan Tong, Kian Hong Kock, Do [&#8230;]\n","protected":false},"author":6,"featured_media":4611,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3],"tags":[],"class_list":["post-4777","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-3"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and 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