{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T20:56:45Z","timestamp":1781211405436,"version":"3.54.1"},"reference-count":45,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T00:00:00Z","timestamp":1714003200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda (CONACYT)","doi-asserted-by":"publisher","award":["S0008-2015-1-262369"],"award-info":[{"award-number":["S0008-2015-1-262369"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs). Incorporating genetic factors into diagnostic methods would be useful for implementing early detection and management of affected individuals. Our aim was to analyze environmental factors and SNVs in DDH patients. We included 287 DDH cases and 284 controls. Logistic regression demonstrated an association for sex (OR 9.85, 95% CI 5.55\u201317.46, p = 0.0001), family history (OR 2.4, 95% CI 1.2\u20134.5, p = 0.006), fetal presentation (OR 3.19, 95% CI 1.55\u20136.54, p = 0.002), and oligohydramnios (OR 2.74, 95%CI 1.12\u20136.70, p = 0.026). A model predicting the risk of DDH including these variables showed sensitivity, specificity, PPV, and NPV of 0.91, 0.53, 0.74, and 0.80 respectively. The SNV rs1800470 in TGFB1 showed an association when adjusted for covariables, OR 0.49 (95% CI 0.27\u20130.90), p = 0.02. When rs1800470 was included in the equation, sensitivity, specificity, PPV and NPV were 0.90, 0.61, 0.84, and 0.73, respectively. Incorporating no-operator dependent variables and SNVs in detection methods could be useful for establishing uniform clinical guidelines and optimizing health resources.<\/jats:p>","DOI":"10.3390\/diagnostics14090898","type":"journal-article","created":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T10:56:32Z","timestamp":1714128992000},"page":"898","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Environmental and Genetic Risk Factors in Developmental Dysplasia of the Hip for Early Detection of the Affected Population"],"prefix":"10.3390","volume":"14","author":[{"given":"Judit A.","family":"Ram\u00edrez-Rosete","sequence":"first","affiliation":[{"name":"Department of Genomics Medicine, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alonso","family":"Hurtado-Vazquez","sequence":"additional","affiliation":[{"name":"Department of Genomics Medicine, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Miranda-Duarte","sequence":"additional","affiliation":[{"name":"Department of Genomics Medicine, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Peralta-Cruz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramiro","family":"Cuevas-Olivo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Antonio","family":"Mart\u00ednez-Junco","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalba","family":"Sevilla-Montoya","sequence":"additional","affiliation":[{"name":"Department of Genetics and Human Genomics, National Institute of Perinatology, Montes Urales 800, Lomas-Virreyes, Lomas de Chapultepec IV Secc, Miguel Hidalgo, Mexico City 11000, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berenice","family":"Rivera-Paredez","sequence":"additional","affiliation":[{"name":"Research Center in Policies, Population and Health, School of Medicine, National Autonomous University of Mexico, Zona Cultural s\/n, CIPPS 2\u00b0 Piso Ciudad Universitaria, Coyoac\u00e1n, Mexico City 04510, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4515-0777","authenticated-orcid":false,"given":"Rafael","family":"Vel\u00e1zquez-Cruz","sequence":"additional","affiliation":[{"name":"Genomics of Bone Metabolism Laboratory, National Institute of Genomic Medicine (INMEGEN), Arenal Tepepan, Tlalpan, Mexico City 14610, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarita","family":"Valdes-Flores","sequence":"additional","affiliation":[{"name":"Department of Genomics Medicine, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Rangel-Escareno","sequence":"additional","affiliation":[{"name":"Computational Genomics Department, Instituto Nacional de Medicina Gen\u00f3mica (INMEGEN), Arenal Tepepan, Tlalpan, Mexico City 14610, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1895-6193","authenticated-orcid":false,"given":"Gerardo J.","family":"Alanis-Funes","sequence":"additional","affiliation":[{"name":"School of Engineering and Sciences, Tecnologico de Monterrey, Campus Quer\u00e9taro, Quer\u00e9taro 76130, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Abad-Azpetia","sequence":"additional","affiliation":[{"name":"Department of Genomics Medicine, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacnicte G.","family":"Grimaldo-Galeana","sequence":"additional","affiliation":[{"name":"Department of Genomics Medicine, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica G.","family":"Santamar\u00eda-Olmedo","sequence":"additional","affiliation":[{"name":"Department of Genomics Medicine, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2506-8784","authenticated-orcid":false,"given":"Alberto","family":"Hidalgo-Bravo","sequence":"additional","affiliation":[{"name":"Department of Genomics Medicine, National Institute of Rehabilitation (INRLGII), Calzada Mexico-Xochimilco 289, Arenal de Guadalupe, Mexico City 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"American Academy of Pediatrics (2000). 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