{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T22:12:43Z","timestamp":1764022363062,"version":"3.45.0"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T00:00:00Z","timestamp":1763942400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Indian Council on Medical Research North East Task Force","award":["NTF-NER\/NER-Cell\/RBMCH-2020"],"award-info":[{"award-number":["NTF-NER\/NER-Cell\/RBMCH-2020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Ficolins, encoded by FCN genes, are key pattern recognition molecules of the lectin complement pathway involved in immune complex clearance, a process often impaired in systemic lupus erythematosus (SLE). Genetic polymorphisms in FCN genes may influence disease susceptibility. However, their functional significance in SLE remains unclear. The present study aimed to investigate the association of selected FCN gene single-nucleotide polymorphisms (SNPs) with SLE, lupus nephritis (LN), and serum ficolin levels in a Western Indian cohort. Seven SNPs in FCN1 (rs2989727, rs1071583), FCN2 (rs7851696, rs17549193, rs7865453, rs17514136), and FCN3 (rs3813800) were genotyped in 200 SLE patients and 200 healthy controls using polymerase chain reaction (PCR) sequence-specific primer and PCR restriction fragment length polymorphism. Serum ficolin-1, -2, and -3 levels were measured using ELISA. Statistical analysis included \u03c72 test, Kruskal\u2013Wallis test, and logistic regression to assess associations and calculate odds ratios with 95% confidence intervals. The analysis identified significant associations of FCN2 rs7851696, rs7865453, and rs17514136, as well as FCN3 rs3813800, with SLE susceptibility. Among LN patients, FCN1 rs2989727 and rs1071583, FCN2 rs17514136, and FCN3 rs3813800 showed significant associations. FCN3 rs3813800 was significantly associated with ficolin-3 levels, while FCN2 rs7865453 was associated with complement component 1q\u2013circulation immune complex levels. These findings provide novel insight into associations of FCN gene polymorphisms with SLE and LN susceptibility, with genotype\u2013phenotype correlations suggesting their biological relevance. Future longitudinal and mechanistic studies are warranted to validate these associations and explore their therapeutic potential.<\/jats:p>","DOI":"10.1093\/immhor\/vlaf064","type":"journal-article","created":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T22:10:26Z","timestamp":1764022226000},"source":"Crossref","is-referenced-by-count":0,"title":["Polymorphisms in\n                    <i>FCN<\/i>\n                    genes and their influence on systemic lupus erythematosus susceptibility: a report from Western India"],"prefix":"10.1093","volume":"9","author":[{"given":"Kirti","family":"Rai","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ridi","family":"Khatri","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amrutha","family":"Jose","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milind","family":"Nadkar","sequence":"additional","affiliation":[{"name":"Department of Medicine, G.S. Medical College and King Edward Memorial Hospital , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjali","family":"Rajadhyaksha","sequence":"additional","affiliation":[{"name":"Department of Medicine, G.S. Medical College and King Edward Memorial Hospital , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harshada","family":"Konkar","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trisha","family":"Samant","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pooja","family":"Jaiswal","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunal","family":"Dabholkar","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Swapnal","family":"Pawaskar","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aman","family":"Malik","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Altaf","family":"Parande","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gauthami","family":"Bitla","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashant","family":"Tapase","sequence":"additional","affiliation":[{"name":"Information Technology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijay","family":"Padwal","sequence":"additional","affiliation":[{"name":"Library and Information Technology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6380-3116","authenticated-orcid":false,"given":"Manisha","family":"Madkaikar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vandana D","family":"Pradhan","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Immunology, National Institute of Immunohaematology, Indian Council of Medical Research , Mumbai, Maharashtra,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,11,24]]},"reference":[{"key":"2025112417102312600_vlaf064-B1","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/s12519-019-00229-3","article-title":"Immunological pathogenesis and treatment of systemic lupus erythematosus","volume":"16","author":"Pan","year":"2020","journal-title":"World J Pediatr"},{"key":"2025112417102312600_vlaf064-B2","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.3390\/ijms25031566","article-title":"The lectin pathway of the complement system\u2014activation, regulation, disease connections and interplay with other (proteolytic) systems","volume":"25","author":"Dob\u00f3","year":"2024","journal-title":"Int J Mol Sci"},{"key":"2025112417102312600_vlaf064-B3","first-page":"148","article-title":"The lectin pathway of complement and rheumatic heart disease","volume":"2","author":"Beltrame","year":"2014","journal-title":"Front Pediatr"},{"key":"2025112417102312600_vlaf064-B4","doi-asserted-by":"crossref","first-page":"105266","DOI":"10.1016\/j.phrs.2020.105266","article-title":"Emerging role of ficolins in autoimmune diseases","volume":"163","author":"Wang","year":"2021","journal-title":"Pharmacol Res"},{"key":"2025112417102312600_vlaf064-B5","doi-asserted-by":"crossref","first-page":"3205072","DOI":"10.1155\/2019\/3205072","article-title":"Ficolins and the recognition of pathogenic microorganisms: an overview of the innate immune response and contribution of single nucleotide polymorphisms","volume":"2019","author":"Bidula","year":"2019","journal-title":"J Immunol Res"},{"key":"2025112417102312600_vlaf064-B6","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/intimm\/dxy056","article-title":"Ficolin-1 is a promising therapeutic target for autoimmune diseases","volume":"31","author":"Katayama","year":"2019","journal-title":"Int Immunol"},{"key":"2025112417102312600_vlaf064-B7","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1159\/000242419","article-title":"The genetics of ficolins","volume":"2","author":"Garred","year":"2010","journal-title":"J Innate Immun"},{"key":"2025112417102312600_vlaf064-B8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/ahg.12129","article-title":"Ficolin gene polymorphisms in systemic lupus erythematosus and rheumatoid arthritis","volume":"80","author":"Addobbati","year":"2016","journal-title":"Ann Hum Genet"},{"key":"2025112417102312600_vlaf064-B9","doi-asserted-by":"crossref","first-page":"138797","DOI":"10.1155\/2012\/138797","article-title":"Human L-ficolin (ficolin-2) and its clinical significance","volume":"2012","author":"Kilpatrick","year":"2012","journal-title":"J Biomed 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The association of ficolin-1 and rheumatic fever","volume":"9","author":"Catarino","year":"2018","journal-title":"Front Immunol"},{"key":"2025112417102312600_vlaf064-B25","doi-asserted-by":"crossref","first-page":"100968","DOI":"10.1016\/j.genrep.2020.100968","article-title":"Association of FCN2 gene rs3124954 and STAT4 gene rs7582694 polymorphisms with juvenile onset systemic lupus erythematosus and lupus nephritis in a sample of Egyptian children","volume":"21","author":"Ashmawy","year":"2020","journal-title":"Gene Rep"},{"key":"2025112417102312600_vlaf064-B26","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1093\/hmg\/ddi173","article-title":"Polymorphisms in the FCN2 gene determine serum variation and function of ficolin-2","volume":"14","author":"Hummelshoj","year":"2005","journal-title":"Hum Mol Genet"},{"key":"2025112417102312600_vlaf064-B27","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1002\/gepi.20025","article-title":"The role of haplotypes in candidate gene studies","volume":"27","author":"Clark","year":"2004","journal-title":"Genet Epidemiol"},{"key":"2025112417102312600_vlaf064-B28","doi-asserted-by":"crossref","first-page":"367","DOI":"10.3390\/biom13020367","article-title":"Complement as a biomarker for systemic lupus erythematosus","volume":"13","author":"Ayano","year":"2023","journal-title":"Biomolecules"}],"container-title":["ImmunoHorizons"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/immunohorizons\/article-pdf\/9\/12\/vlaf064\/65492744\/vlaf064.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/immunohorizons\/article-pdf\/9\/12\/vlaf064\/65492744\/vlaf064.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T22:10:30Z","timestamp":1764022230000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/immunohorizons\/article\/doi\/10.1093\/immhor\/vlaf064\/8341604"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,24]]},"references-count":28,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,11,24]]}},"URL":"https:\/\/doi.org\/10.1093\/immhor\/vlaf064","relation":{},"ISSN":["2573-7732"],"issn-type":[{"value":"2573-7732","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,12]]},"published":{"date-parts":[[2025,11,24]]},"article-number":"vlaf064"}}