{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:10:08Z","timestamp":1760145008130,"version":"build-2065373602"},"reference-count":28,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T00:00:00Z","timestamp":1717977600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto Nacional de Pediatr\u00eda, Secretar\u00eda de Salud (Recursos Fiscales 2022\u20132024, Programa E022 Investigaci\u00f3n y Desarrollo Tecnol\u00f3gico en Salud, Ciudad de M\u00e9xico, M\u00e9xico)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>A ~3-kb deletion-type DNA copy number variation (CNV, esv3587290) located at intron 7 of the VANGL1 gene (1p13.1, MIM*610132) has been proposed as a genetic factor in lupus nephritis (LN) development in adult systemic lupus erythematosus (SLE) patients across European-descent populations, but its replication in other ethnicities has been inconsistent and its association with LN in childhood-onset SLE (cSLE) remains unknown. Here, we performed an exploratory association study in a sample of 66 unrelated cSLE Mexican patients (11 males, 55 females; ages 7.8 to 18.6 years). Two stratified groups were compared: cSLE patients with (N = 39) or without (N = 27) LN, as diagnosed by renal biopsy (N = 17), proteinuria (N = 33), urinary protein\u2013creatinine ratio &gt; 0.2 (N = 34), and erythrocyturia and\/or granular casts in urinary sediment (N = 16). For esv3587290 CNV genotyping, we performed an end-point PCR assay with breakpoint confirmation using Sanger sequencing. We also determined the allelic frequencies of the esv3587290 CNV in 181 deidentified ethnically matched individuals (reference group). The obtained genotypes were tested for Hardy\u2013Weinberg equilibrium using the \u03c72 test. Associations between LN and esv3587290 CNV were tested by calculating the odds ratio (OR) and using Pearson\u2019s \u03c72 tests, with a 95% confidence interval and p \u2264 0.05. The esv3587290 CNV allele (OR 0.108, 95% CI 0.034\u20130.33, p = 0.0003) and the heterozygous genotype (OR 0.04, 95% CI 0.119\u20130.9811, p = 0.002) showed a significant protective effect against LN development. Finally, we characterized the precise breakpoint of the esv3587290 CNV to be NG_016548.1(NM_138959.3):c.1314+1339_1315-897del in our population. This report supports the notion that a broad genetic heterogeneity underlies the susceptibility for developing LN.<\/jats:p>","DOI":"10.3390\/children11060712","type":"journal-article","created":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T10:45:56Z","timestamp":1718016356000},"page":"712","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Does the esv3587290 Copy Number Variation in the VANGL1 Gene Differ as a Genetic Factor for Developing Nephritis in Mexican Childhood-Onset Systemic Lupus Erythematosus Patients?"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0592-8214","authenticated-orcid":false,"given":"Miguel","family":"Alc\u00e1ntara-Ortigoza","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6585-4950","authenticated-orcid":false,"given":"Ana","family":"Rodr\u00edguez-Lozano","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0553-0452","authenticated-orcid":false,"given":"Bernardette","family":"Estand\u00eda-Ortega","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7096-0969","authenticated-orcid":false,"given":"Ariadna","family":"Gonz\u00e1lez-del Angel","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6757-3688","authenticated-orcid":false,"given":"Luisa","family":"D\u00edaz-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Departamento de Metodolog\u00eda de la Investigaci\u00f3n, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9565-9072","authenticated-orcid":false,"given":"Francisco","family":"Rivas-Larrauri","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"N\u00e1jera-Vel\u00e1zquez","sequence":"additional","affiliation":[{"name":"Servicio de Inmunolog\u00eda, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1097\/BOR.0b013e328363e868","article-title":"An update on childhood-onset systemic lupus erythematosus","volume":"25","author":"Barsalou","year":"2013","journal-title":"Curr. 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