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Recently, cytoplasmic phosphatidylinositol transfer protein 1 (PITPNC1) was reported to be capable of enhancing vesicular secretion, which was correlated with autoimmune disorders contributing to SLE. Here, we aimed to explore the genetic association between\n                    <jats:italic>PITPNC1<\/jats:italic>\n                    polymorphisms and SLE susceptibility. The genetic association analysis included two cohorts: a discovery cohort (490 SLE cases vs. 493 healthy controls) and replication cohort (1003 SLE cases and 815 healthy controls).\n                    <jats:italic>rSNPBASE<\/jats:italic>\n                    , RegulomeDB databases, and Three\u2010dimensional (3D) chromatin looping data were used for functional annotation, and luciferase reporter assay was performed for validation. The expression data from ArrayExpress were used for\n                    <jats:italic>PITPNC1<\/jats:italic>\n                    gene expression analysis. Three variants (rs4239092, p = 3.04\u00d710\n                    <jats:sup>\u22122<\/jats:sup>\n                    ; rs6504516,\n                    <jats:italic>p<\/jats:italic>\n                    = 3\u00d710\n                    <jats:sup>\u22122<\/jats:sup>\n                    ; rs2706682,\n                    <jats:italic>p<\/jats:italic>\n                    = 3.88\u00d710\n                    <jats:sup>\u22124<\/jats:sup>\n                    ) were significantly associated with the increased susceptibility to SLE in a previous GWAS cohort. The prominent rs2706682 was successfully replicated (\n                    <jats:italic>p<\/jats:italic>\n                    = 1.44\u00d710\n                    <jats:sup>\u22123<\/jats:sup>\n                    ), and the significance of genetic association was reinforced reaching 6.21\u00d710\n                    <jats:sup>\u22126<\/jats:sup>\n                    (OR 2.36, 95% CI 1.63\u20133.42). Functional analysis showed that rs2706682 is a regulatory SNP located within the strong transcription and enhancer chromatin state region. Further, dual\u2010luciferase reporter gene assay demonstrated that the risk G allele correlated with increased expression. Finally, the gene expression analysis showed that the level of\n                    <jats:italic>PITPNC1<\/jats:italic>\n                    expression was significantly higher in patients with SLE. Our study identified that the variant rs2706682 in\n                    <jats:italic>PITPNC1<\/jats:italic>\n                    , encoding an important player in enhancing extracellular vesicles, was associated with SLE susceptibility.\n                  <\/jats:p>","DOI":"10.1111\/iji.70056","type":"journal-article","created":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T06:01:14Z","timestamp":1779775274000},"page":"344-350","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Variant rs2706682 at\n                    <i>PITPNC1<\/i>\n                    , Which Enhances Vehicular Secretion, Associated With Systemic Lupus Erythematosus Susceptibility in Chinese Populations"],"prefix":"10.1111","volume":"53","author":[{"given":"Ruiying","family":"Duan","sequence":"first","affiliation":[{"name":"Nephrology Hospital The First Affiliated Hospital of Zhengzhou University Zhengzhou University  Henan China"},{"name":"Institute of Nephrology Zhengzhou University  Henan China"},{"name":"Laboratory of Nephrology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Qi","sequence":"additional","affiliation":[{"name":"Nephrology Hospital The First Affiliated Hospital of Zhengzhou University Zhengzhou University  Henan China"},{"name":"Institute of Nephrology Zhengzhou University  Henan China"},{"name":"Laboratory of Nephrology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangming","family":"Zhang","sequence":"additional","affiliation":[{"name":"Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tengyu","family":"Zhu","sequence":"additional","affiliation":[{"name":"Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Liu","sequence":"additional","affiliation":[{"name":"Nephrology Hospital The First Affiliated Hospital of Zhengzhou University Zhengzhou University  Henan China"},{"name":"Institute of Nephrology Zhengzhou University  Henan China"},{"name":"Laboratory of Nephrology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huimiao","family":"Hu","sequence":"additional","affiliation":[{"name":"Nephrology Hospital The First Affiliated Hospital of Zhengzhou University Zhengzhou University  Henan China"},{"name":"Institute of Nephrology Zhengzhou University  Henan China"},{"name":"Laboratory of Nephrology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Guo","sequence":"additional","affiliation":[{"name":"Nephrology Hospital The First Affiliated Hospital of Zhengzhou University Zhengzhou University  Henan China"},{"name":"Institute of Nephrology Zhengzhou University  Henan China"},{"name":"Laboratory of Nephrology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Key Laboratory of Precision Diagnosis and Treatment for Chronic Kidney Disease in Henan Province  Zhengzhou China"},{"name":"Tianjian Laboratory of Advanced Biomedical Sciences Academy of Medical Sciences Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ZhanZheng","family":"Zhao","sequence":"additional","affiliation":[{"name":"Nephrology Hospital The First Affiliated Hospital of Zhengzhou University Zhengzhou University  Henan China"},{"name":"Institute of Nephrology Zhengzhou University  Henan China"},{"name":"Laboratory of Nephrology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dahai","family":"Yu","sequence":"additional","affiliation":[{"name":"Nephrology Hospital The First Affiliated Hospital of Zhengzhou University Zhengzhou University  Henan China"},{"name":"Institute of Nephrology Zhengzhou University  Henan China"},{"name":"Laboratory of Nephrology The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Key Laboratory of Chronic Disease Prevention and Therapy &amp; Intelligent Health Management The First Affiliated Hospital Zhengzhou University  Zhengzhou China"},{"name":"Primary Care Centre Versus Arthritis School of Medicine Keele University  Keele UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,25]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/iid3.70124"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201306010"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.137323.112"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.immuni.2024.09.004"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u201094\u2010007\u20105025\u20108_9"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbior.2024.101056"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41392\u2010025\u201002168\u20100"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/6071308"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kws123"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt1167"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccell.2016.02.013"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/lupus\u20102014\u2010000080"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010023\u201043650\u2010z"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.30499"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18040717"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab1008"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.98204"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells14141080"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3496"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.18.10932"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2016.12.005"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/toxsci\/kfv084"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.835566"}],"container-title":["International Journal of Immunogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/iji.70056","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/iji.70056","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/iji.70056","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:51:25Z","timestamp":1783655485000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/iji.70056"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,25]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1111\/iji.70056"],"URL":"https:\/\/doi.org\/10.1111\/iji.70056","archive":["Portico"],"relation":{},"ISSN":["1744-3121","1744-313X"],"issn-type":[{"value":"1744-3121","type":"print"},{"value":"1744-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,25]]},"assertion":[{"value":"2025-11-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}