Association of thyroperoxidase gene polymorphisms with dyshormonogenesis in congenital hypothyroidism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 861-865, 2015.
Artículo
en Chino
| WPRIM
| ID: wpr-287971
ABSTRACT
<p><b>OBJECTIVE</b>To assess the association of thyroperoxidase (TPO) gene polymorphisms with dyshormonogenesis in congenital hypothyroidism (CH).</p><p><b>METHODS</b>The 17 exons and flanking introns of the TPO gene from 30 randomly selected samples were sequenced for the selection of single nucleotide polymorphisms (SNPs). In 136 patients with dyshormonogenetic CH and 141 healthy controls from the same region, the selected SNPs were genotyped by polymerase chain reaction (PCR) and direct sequencing or PCR-restriction fragment length polymorphism (RFLP).</p><p><b>RESULTS</b>Six SNPs (rs9678281, rs376413622, rs1126797, rs4927611, rs732609 and rs1126799) were selected to determine the genotype for each sample. Among these, rs4927611 and rs732609 showed a significant difference between the two groups in both allelic and genotypic frequencies. With a recessive model of inheritance, rs732609 CC (OR=0.484, 95%CI 0.253-0.927, P=0.04) and rs4927611 TT (OR=0.32, 95%CI 0.112-0.915, P=0.047) were greater in the patients.</p><p><b>CONCLUSION</b>rs4927611 and rs732609 may be associated with dyshormonogenetic CH. rs4927611 TT and rs732609 CC are genotypes associated with potential risk for the disease.</p>
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Autoantígenos
/
Tiroxina
/
Sangre
/
Polimorfismo de Longitud del Fragmento de Restricción
/
Tirotropina
/
Secuencia de Bases
/
Desequilibrio de Ligamiento
/
Reacción en Cadena de la Polimerasa
/
Factores de Riesgo
/
Predisposición Genética a la Enfermedad
Tipo de estudio:
Estudio de etiología
/
Estudio pronóstico
/
Factores de riesgo
Límite:
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Artículo
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