Screening of Graves' disease susceptibility genes by whole exome sequencing in a three-generation family.
BMC Med Genomics
; 14(1): 46, 2021 02 10.
Article
em En
| MEDLINE
| ID: mdl-33568133
ABSTRACT
BACKGROUND:
Graves' disease(GD) has a tendency for familial aggregation, but it is uncommon to occur in more than two generations. However, little is known about susceptibility genes for GD in the three-generation family.METHODS:
DNA were extracted from three-generation familial GD patient with a strong genetic background in a Chinese Han population. The Whole Exome Sequencing (WES) was utilized to screen the genome for SNVs associated with GD and the Sanger Sequencing was used to confirm the potential disease-causing genes.RESULTS:
In the case study, there were five patients with Graves' disease(GD) from a three-generation family. The SNVs of MAP7D2(c. 452C > T p. A151V), SLC1A7(c. 1204C > T p. R402C), TRAF3IP3(c. 209A > T p. N70I), PTPRB(c. 3472A > G p. S1158G), PIK3R3(c. 121C > T p. P41S), DISC1(c. 1591G > C p. G531R) were found to be associated with the familial GD and the Sanger sequencing had confirmed these variations. Furthermore, PolyPhen-2 score showed that the variants in TRAF3IP3, PTPRB, PIK3R3 are more likely to change protein functions.CONCLUSION:
The MAP7D2, SLC1A7, TRAF3IP3, PTPRB, PIK3R3, DISC1 may be the candidate susceptibility genes for familial GD from a three generations family.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Graves
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Adult
/
Humans
Idioma:
En
Revista:
BMC Med Genomics
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
China