PMID- 25455162
OWN - NLM
STAT- MEDLINE
DCOM- 20161213
LR  - 20190117
IS  - 1728-7731 (Electronic)
IS  - 1726-4901 (Linking)
VI  - 78
IP  - 3
DP  - 2015 Mar
TI  - A systematic review of genetic studies of thyroid disorders in Taiwan.
PG  - 145-53
LID - S1726-4901(14)00260-3 [pii]
LID - 10.1016/j.jcma.2014.09.010 [doi]
AB  - A systematic review of genetic studies of thyroid disorders in Taiwan identified 
      studies of gene mutations involved in the synthesis and binding of thyroid 
      hormone, as well as mutations of proto-oncogenes and tumor suppressor genes in 
      thyroid cancer. Studies related to gene polymorphisms in patients with autoimmune 
      thyroid disease (AITD) and thyroid cancer were also reviewed. The most prevalent 
      mutations in the Han-Chinese population were c.2268insT in the thyroid peroxidase 
      (TPO) gene and c.919-2A>G in the Pendred syndrome (PDS) gene. Additional 
      mutations have also been revealed in the genes encoding TPO (n = 5), 
      thyroglobulin (TG; n = 6), pendrin (n = 2), and thyroxine-binding globulin (TBG; 
      n = 2), which were novel at the time they were reported. The prevalence of 
      various somatic mutations in differentiated thyroid cancer was similar in Taiwan 
      and Western countries, with the RAS kinase mutation and tyrosine receptor kinase 
      (TRK) and rearranged during transfection (RET) proto-oncogenes being detected in 
      lower frequencies and the B-type RAF kinase (BRAF) mutation accounting for the 
      majority of cases. Recent microRNA analysis revealed an association between 
      miR146b and the BRAF mutation, which was associated with poor prognosis of 
      papillary thyroid carcinoma (PTC). Susceptibility to Graves' disease (GD) was 
      linked to the human leukocyte antigen (HLA) region. The associated alleles were 
      different in Han-Chinese and Caucasians; HLA-DPB1*0501, the major allele in 
      Taiwan, has a low frequency in the West. By contrast, a high frequency of 
      HLA-DRB1*0301 was detected in Caucasians but not Han-Chinese. In addition to the 
      HLA region, cytotoxic T lymphocyte-associated molecule-4 (CTLA4) gene 
      polymorphisms +49G>A and +6230G>A (CT60) were positively associated with GD. The 
      GG genotype and G allele of single nucleotide polymorphism (SNP) +49G>A were also 
      related to relapse of Graves' hyperthyroidism after antithyroid drug withdrawal. 
      Differences in the genetic patterns between Han-Chinese and Caucasians for some 
      thyroid disorders suggest the importance of variable genetic influences in 
      different populations.
CI  - Copyright (c) 2014. Published by Elsevier Taiwan.
FAU - Huang, Chun-Jui
AU  - Huang CJ
AD  - Division of Endocrinology and Metabolism, Department of Medicine, Taipei Veterans 
      General Hospital, Taipei, Taiwan, ROC; Faculty of Medicine, National Yang-Ming 
      University, Taipei, Taiwan, ROC.
FAU - Jap, Tjin-Shing
AU  - Jap TS
AD  - Division of Endocrinology and Metabolism, Department of Medicine, Taipei Veterans 
      General Hospital, Taipei, Taiwan, ROC; Faculty of Medicine, National Yang-Ming 
      University, Taipei, Taiwan, ROC. Electronic address: tsjap@vghtpe.gov.tw.
LA  - eng
PT  - Journal Article
PT  - Review
PT  - Systematic Review
DEP - 20141111
PL  - Netherlands
TA  - J Chin Med Assoc
JT  - Journal of the Chinese Medical Association : JCMA
JID - 101174817
RN  - 0 (HLA Antigens)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (Receptors, Thyrotropin)
RN  - 0 (SLC26A4 protein, human)
RN  - 0 (Sulfate Transporters)
RN  - EC 1.11.1.8 (Iodide Peroxidase)
RN  - EC 2.7.11.1 (BRAF protein, human)
RN  - EC 2.7.11.1 (Proto-Oncogene Proteins B-raf)
RN  - EC 3.1.3.67 (PTEN Phosphohydrolase)
RN  - EC 3.1.3.67 (PTEN protein, human)
SB  - IM
MH  - Congenital Hypothyroidism/genetics
MH  - Genetic Predisposition to Disease
MH  - HLA Antigens/genetics
MH  - Humans
MH  - Iodide Peroxidase/genetics
MH  - Membrane Transport Proteins/genetics
MH  - Mutation
MH  - PTEN Phosphohydrolase/genetics
MH  - Proto-Oncogene Proteins B-raf/genetics
MH  - Receptors, Thyrotropin/genetics
MH  - Sulfate Transporters
MH  - Thyroid Diseases/*genetics
OTO - NOTNLM
OT  - Taiwan
OT  - gene
OT  - mutation
OT  - thyroid
EDAT- 2014/12/03 06:00
MHDA- 2016/12/15 06:00
CRDT- 2014/12/03 06:00
PHST- 2014/01/17 00:00 [received]
PHST- 2014/08/05 00:00 [accepted]
PHST- 2014/12/03 06:00 [entrez]
PHST- 2014/12/03 06:00 [pubmed]
PHST- 2016/12/15 06:00 [medline]
AID - S1726-4901(14)00260-3 [pii]
AID - 10.1016/j.jcma.2014.09.010 [doi]
PST - ppublish
SO  - J Chin Med Assoc. 2015 Mar;78(3):145-53. doi: 10.1016/j.jcma.2014.09.010. Epub 
      2014 Nov 11.