Browsing by Author "Suazo, José"

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    Daam1a mediates asymmetric habenular morphogenesis by regulating dendritic and axonal outgrowth
    (2013) Colombo, Alicia; Palma, Karina; Armijo, Lorena; Mione, Marina; Signore, Iskra A.; Morales, Camila; Guerrero, Néstor; Meynard, Margarita M.; Pérez, Ramón; Suazo, José; Marcelain, Katherine; Briones, Luis; Häertel, Steffen; Wilson, Stephen W.; Concha, Miguel L.
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    Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile
    (2014) Pardo, Rosa; Suazo, José; Castillo, Silvia; Vargas, Marcela; Zalavaria, Andrea; Santos Martín, José Luis; Blanco, Rafael; Rotter, Karin; Solar, Margarita; Tapia, Eva
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    Family-Based Association Study Between SLC2A1, HK1, and LEPR Polymorphisms With Myelomeningocele in Chile
    (2013) Suazo, José; Pardo Vargas, Rosa; Castillo, Silvia; Martín, Luz María; Rojas, Francisca; Santos Martín, José Luis; Rotter, Karin; Solar, Margarita; Tapia, Eva
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    Gene-gene interaction for nonsyndromic cleft lip with or without cleft palate in chilean case-parent trios
    (2018) Suazo, José; Santos Martín, José Luis; Colombo, Alicia; Pardo, Rosa
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    Linkage Disequilibrium Between IRF6 Variants and Nonsyndromic Cleft Lip/Palate in the Chilean Population
    (2008) Suazo, José; Santos Martín, José Luis; Jara, Lilian; Blanco, Rafael
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    Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants
    (2020) Cáceres Rojas, Gabriela; Salamanca, Carlos; Krause, Bernardo J.; Recabarren, Andrea S.; Pantoja, Roberto; Leiva, Noemi; Pardo, Rosa; Santos Martín, José Luis; Suazo, José
    Aim: To evaluate the risk of nonsyndromic orofacial clefts (NSOFCs) associated with LINE-1 methylation, as a marker of global DNA methylation, and the effect of MTHFR functional variants on this variable. Patients & methods: LINE-1 methylation was evaluated by bisulfite modification coupled to DNA pyrosequencing in 95 NSOFC cases and 95 controls. In these subjects, MTHFR genotypes for variants c.C677T (rs1801133) and c.A1298C (rs1801131) were obtained. Results: Middle levels (second tertile) of LINE-1 methylation increase the risk of NSOFCs. In addition, LINE-1 methylation depends on c.A1298C genotypes in controls but not in cases. Conclusion: A nonlinear association between global DNA methylation and NSOFCs was detected in this Chilean population, which appears to be influenced by MTHFR functional variants.
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    Novel splice-affecting variants in CYP27A1 gene in two chilean patients with cerebrotendinous xanthomatosis
    (2015) Smalley Meylan, Susan Valerie; Preiss, Yudith; Suazo, José; Vega, Javier Andrés; Angellotti, Isidora; Lagos F., Carlos; Rivera, Enzo; Kleinsteuber, Karin; Campion, Javier; Martínez, J. Alfredo; Maíz Gurruchaga, Alberto Luis; Santos Martín, José Luis
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    Polimorfismos genéticos de interleuquina 6 (IL6), IL6R e IL18 : asociación con componentes del síndrome metabólico en niños chilenos con obesidad
    (2014) Suazo, José; Smalley Meylan, Susan Valerie; Hodgson Bunster, María Isabel; Weisstaub, Gerardo; González, Andrea; Santos Martín, José Luis
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    Prevalence of metabolic syndrome in obese Chilean children and association with gene variants of the leptin-melanocortin system
    (2013) Suazo, José; Hodgson Bunster, María Isabel; Weisstaub, G.; Amador, P.; Santos Martín, José Luis
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    Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population
    (2011) Suazo, José; Tapia, Julio C.; Santos Martín, José Luis; Castro, Víctor G.; Colombo, Alicia.; Blanco, Rafael.
    Abstract Background Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP) and BMP4 polymorphisms by detecting transmission deviations for haplotypes that include a region containing a BMP4 promoter in case-parent trios. The aim of the present study was to search for possible causal mutations within BMP4 promoters (BMP4.1 and BMP4.2). Methods We analyzed the sequence of BMP4.1 and BMP4.2 in 167 Chilean NSCLP cases and 336 controls. Results We detected three novel variants in BMP4.1 (c.-5514G > A, c.-5365C > T and c.-5049C > T) which could be considered as cleft risk factors due to their absence in controls. Additionally, rs2855530 G allele (BMP4.2) carriers showed an increased risk for NSCLP restricted to males (OR = 1.52; 95% C.I. = 1.07-2.15; p = 0.019). For this same SNP the dominant genotype model showed a higher frequency of G/G+G/C and a lower frequency of C/C in cases than controls in the total sample (p = 0.03) and in the male sample (p = 0.003). Bioinformatic prediction analysis showed that all the risk variants detected in this study could create new transcription factor binding motifs. Conclusions The sex-dependent association between rs2855530 and NSCLP could indirectly be related to the differential gene expression observed between sexes in animal models. We concluded that risk variants detected herein could potentially alter BMP4 promoter activity in NSCLP. Further functional and developmental studies are necessary to support this hypothesis.Abstract Background Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP) and BMP4 polymorphisms by detecting transmission deviations for haplotypes that include a region containing a BMP4 promoter in case-parent trios. The aim of the present study was to search for possible causal mutations within BMP4 promoters (BMP4.1 and BMP4.2). Methods We analyzed the sequence of BMP4.1 and BMP4.2 in 167 Chilean NSCLP cases and 336 controls. Results We detected three novel variants in BMP4.1 (c.-5514G > A, c.-5365C > T and c.-5049C > T) which could be considered as cleft risk factors due to their absence in controls. Additionally, rs2855530 G allele (BMP4.2) carriers showed an increased risk for NSCLP restricted to males (OR = 1.52; 95% C.I. = 1.07-2.15; p = 0.019). For this same SNP the dominant genotype model showed a higher frequency of G/G+G/C and a lower frequency of C/C in cases than controls in the total sample (p = 0.03) and in the male sample (p = 0.003). Bioinformatic prediction analysis showed that all the risk variants detected in this study could create new transcription factor binding motifs. Conclusions The sex-dependent association between rs2855530 and NSCLP could indirectly be related to the differential gene expression observed between sexes in animal models. We concluded that risk variants detected herein could potentially alter BMP4 promoter activity in NSCLP. Further functional and developmental studies are necessary to support this hypothesis.