Association between polymorphism of IRF6 rs2235371 locus and nonsyndromic cleft lip with or without cleft palate / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 149-154, 2012.
Article
en Zh
| WPRIM
| ID: wpr-295518
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To assess the association between polymorphism of interferon regulatory factor 6 (IRF6) gene rs2235371 locus and nonsyndromic cleft lip with or without cleft palate in Chinese population.</p><p><b>METHODS</b>Blood samples from 106 patients and their parents and 129 controls and their parents were collected. The polymorphism of IRF6 rs2235371 locus was determined with PCR-restriction fragment length polymorphism (PCR-RFLP) method. Case-control analysis, transmission disequilibrium test(TDT), haplotype-based haplotype relative risk analysis (HHRR) and family-based association test (FBAT) were carried out.</p><p><b>RESULTS</b>By case-control analysis, no significant difference was found in the frequencies of GG, GA and AA genotypes of rs2235371 locus between the patient group and control group (P> 0.05), but there was a significant difference in allelic frequencies (P< 0.05). There was also a significant difference in genotype and gene frequencies of rs2235371 variant between family members from cleft lip only group and control group. However, in cleft lip with cleft palate group, no such difference was observed. TDT analysis suggested a linkage in the presence of disequilibrium (chi-square=5.56, P=0.024). Results of HHRR analysis (chi-square=5.115, P=0.024) and FBAT (Z=2.218, P=0.027) also indicated an association between IRF6 rs2235371 variant and the risk of NSCL with or without cleft palate.</p><p><b>CONCLUSION</b>Genetic polymorphism of IRF6 gene rs2235371 locus is associated with NSCL with or without cleft palate.</p>
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Índice:
WPRIM
Asunto principal:
Sangre
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Estudios de Casos y Controles
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China
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Labio Leporino
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Fisura del Paladar
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Predisposición Genética a la Enfermedad
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Polimorfismo de Nucleótido Simple
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Factores Reguladores del Interferón
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Frecuencia de los Genes
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Genética
Tipo de estudio:
Etiology_studies
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Observational_studies
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Risk_factors_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2012
Tipo del documento:
Article