Screening of Graves' disease susceptibility genes by whole exome sequencing in a three-generation family

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. DNA were extracted from three-generation familial GD patient with a strong genetic ba...

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Bibliographic Details
Published in:BMC medical genomics 2021-02, Vol.14 (1), p.46-8, Article 46
Main Authors: Hu, Zhuoqing, Li, Wei, Li, Miaosheng, Wei, Hao, Hu, Zhihui, Chen, Yanting, Luo, Ai, Li, Wangen
Format: Article
Language:English
Subjects:
Adult
Case studies
Deoxyribonucleic acid
Diabetes
Disc1 protein
DNA
Exome Sequencing
Female
Genes
Genetic aspects
Genetic Predisposition to Disease
Genetic susceptibility
Genomes
Graves disease
Graves Disease - genetics
Humans
Hyperthyroidism
Male
Medical research
Medicine, Experimental
Middle Aged
Mutation
Pathogenesis
Patients
Pedigree
Polymorphism
Risk factors
Sample size
Signal transduction
Susceptibility genes
Three generations
Thyroid gland
Whole exome Sequencing
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Summary: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. 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. 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. The MAP7D2, SLC1A7, TRAF3IP3, PTPRB, PIK3R3, DISC1 may be the candidate susceptibility genes for familial GD from a three generations family.
ISSN:1755-8794
1755-8794
DOI:10.1186/s12920-020-00865-z