Zhuoqing Hu1, Wei Li2, Miaosheng Li3, Hao Wei3, Zhihui Hu3, Yanting Chen3, Ai Luo1, Wangen Li4. 1. Department of Endocrinology, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510220, China. 2. Huizhou Health Sciences Polytechnic, Huizhou, China. 3. Department of Endocrinology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China. 4. Department of Endocrinology, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510220, China. liwg660@126.com.
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.
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 GDpatient 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.
Entities:
Keywords:
Graves’ disease; Susceptibility genes; Three generations; Whole exome Sequencing
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