Author | dc.contributor.author | Suazo Sanhueza, José | |
Author | dc.contributor.author | Recabarren, Andrea S. | |
Author | dc.contributor.author | Marín, Nicolás R. | |
Author | dc.contributor.author | Blanco Castillo, Rafael | |
Admission date | dc.date.accessioned | 2020-08-25T16:31:53Z | |
Available date | dc.date.available | 2020-08-25T16:31:53Z | |
Publication date | dc.date.issued | 2020 | |
Cita de ítem | dc.identifier.citation | Reproductive Sciences (2020) | es_ES |
Identifier | dc.identifier.other | 10.1007/s43032-020-00203-9 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/176577 | |
Abstract | dc.description.abstract | The aim of this study was to assess the association betweenIRF6single nucleotide polymorphisms and nonsyndromic cleft lip, with or without cleft palate (NSCL/P), in a Chilean population, based on a case-control sample and confirmed in a case-parent trio population. In a sample of 150 Chilean case-parent trios and 164 controls (cohort 1), we evaluated the association between three commonIRF6variants (rs764093, rs2236909, rs2235375) and NSCL/P using odds ratio (OR) for case-control and case-parent trios and in a combined OR of both designs. To confirm associations from the cohort 1, we increased the sample size to 215 triads and 320 controls (cohort 1 + cohort 2). The combined OR for the cohort 1 reveals that the rs2235375 C allele is associated with NSCL/P in Chile (OR 1.34;p = 0.013), which was supported by the results for the two cohorts (OR 1.29;p = 0.006). Bioinformatic prediction showed that this variant, located 27 bp downstream fromIRF6exon 6, potentially alters the splicing process and based on functional annotations is associated with a decrease of gene expression. We propose that the C allele of rs2235375 fromIRF6gene seems to be a risk factor for NSCL/P in a Chilean population. However, we cannot discard a population stratification bias in our findings. On the other hand, further studies are necessary to confirm the biological role of rs2235375 inIRF6function at craniofacial development level. | es_ES |
Patrocinador | dc.description.sponsorship | Comisión Nacional de Investigación Científica y Tecnológica (CONICYT) CONICYT FONDECYT 1061078 | es_ES |
Lenguage | dc.language.iso | en | es_ES |
Publisher | dc.publisher | Springer | es_ES |
Source | dc.source | Reproductive Sciences | es_ES |
Keywords | dc.subject | Nonsyndromic cleft lip with or without cleft palate | es_ES |
Keywords | dc.subject | IRF6 | es_ES |
Keywords | dc.subject | Case-control | es_ES |
Keywords | dc.subject | Case-parent trios | es_ES |
Título | dc.title | Association between IRF6 variants and nonsyndromic cleft lip with or without cleft palate in Chile | es_ES |
Document type | dc.type | Artículo de revista | es_ES |
dcterms.accessRights | dcterms.accessRights | Acceso a solo metadatos | es_ES |
Cataloguer | uchile.catalogador | ctc | es_ES |
Indexation | uchile.index | Artículo de publicación ISI | |
Indexation | uchile.index | Artículo de publicación SCOPUS | |