Gene-gene interaction for nonsyndromic cleft lip with or without cleft palate in Chilean case-parent trios |
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| Institution: | 1. Instituto de Investigación en Ciencias Odontológicas, Facultad de Odontología, Universidad de Chile, Sergio Livingstone #943, Santiago, Chile;2. Departamento de Nutrición, Diabetes y Metabolismo, Escuela de Medicina, Pontificia Universidad Católica de Chile, Lira #44, Santiago, Chile;3. Programa de Anatomía y Biología del Desarrollo, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Independencia #1027, Santiago, Chile;4. Servicio de Anatomía Patológica, Hospital Clínico de la Universidad de Chile, Santos Dumont #999, Santiago, Chile;5. Sección de Genética, Hospital Clínico Universidad de Chile, Santos Dumont #999, Santiago, Chile;6. Unidad de Neonatología, Hospital Clínico Universidad de Chile, Santos Dumont #999, Santiago, Chile;7. Unidad de Genética, Hospital Dr. Sótero del Río, Concha y Toro #3459, Santiago, Chile;1. The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China;2. The medical department, The Second Affiliated Hospital of Harbin Medical University, Harbin, China;3. The Department of Periodontology, The First Affiliated Hospital, Harbin Medical University, Harbin, China;1. Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830054, People''s Republic of China;2. Stomatological Research Institute of Xinjiang Uyghur Autonomous Region, Urumqi, Xinjiang 830054, People''s Republic of China;1. Department of Orthodontics, Showa University, Tokyo, Japan;2. Department of Orthodontics, Pusan National University, Pusan, South Korea;3. Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan;1. Sri Ramachandra University, Department of Biomedical Sciences, Chennai, India;2. Sri Ramachandra University, Department of Plastic Surgery, Chennai, India;3. Sickle Cell Institute Chhattisgarh, Raipur, India;1. Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, China;2. Central Lab, Guangzhou Women and Children’s Medical Center Guangzhou Medical University, China |
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| Abstract: | ObjectiveNonsyndromic cleft lip with or without cleft palate (NSCL/P) is a birth defect for which several genes susceptibility genes been proposed. Consequently, it has been suggested that many of these genes belong to common inter-related pathways during craniofacial development gene-gene interaction. We evaluated the presence of gene-gene interaction for single nucleotide polymorphisms within interferon regulatory factor 6 (IRF6), muscle segment homeobox 1 (MSX1), bone morphogenetic protein 4 (BMP4) and transforming growth factor 3 (TGFB3) genes in NSCL/P risk in Chilean case-parent trios.DesignFrom previous studies, we retrieved genotypes for 13 polymorphic variants within these four genes in 152 case-parent trios. Using the trio package (R) we evaluate the gene-gen interaction in genetic markers pairs applying a 1°-of-freedom test (1df) and a confirmatory 4°-of-freedom (4df) test for epistasis followed by both a permutation test and a Benjamini-Hochberg test for multiple comparisons adjustment.ResultsWe found evidence of gene-gene interaction for rs6446693 (MSX1) and rs2268625 (TGFB3) (4df p = 0.024; permutation p = 0.015, Benjamini-Hochberg p = 0.001).ConclusionsA significant gene-gene interaction was detected for rs6446693 (MSX1) and rs2268625 (TGFB3). This finding is concordant with research in animal models showing that MSX1 and TGFB3 are expressed in common molecular pathways acting in an epistatic manner during maxillofacial development. |
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| Keywords: | Nonsyndromic cleft lip with or without cleft palate Case-parents trios GxG interaction |
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