PMID- 17785916
OWN - NLM
STAT- MEDLINE
DCOM- 20080313
LR  - 20190907
IS  - 1348-4540 (Electronic)
IS  - 0918-8959 (Linking)
VI  - 54
IP  - 5
DP  - 2007 Dec
TI  - New HLA DRB1 and DQB1 haplotypes in a pedigree of familial Graves' disease in 
      Japan.
PG  - 721-5
AB  - The present study demonstrated genetic analysis of human leukocyte antigen (HLA) 
      in a familial Graves' disease linked to autoimmune mechanism. The proband was a 
      17 year-old female. At 15 years, Graves' disease was diagnosed with serum TSH was 
      <0.015 IU/ml; free T(3), 13.6 pg/ml; free T(4), 4.51 ng/dl; and TSH receptor 
      antibody (TRAb), 94.1%. She had two brothers (19 and 13 years-old), who 
      manifested Graves' disease at 18 and 13 years, respectively. They also had 
      elevated TRAb as high as 48.4 and 49.1%, respectively. There was a strong family 
      history of Graves' disease in their maternal pedigree. Namely, their two aunts 
      and a cousin had Graves' disease, and their onset ages of Graves' disease were 
      also during their teen-age years. However, there was no patient with Graves' 
      disease in the paternal pedigree. We checked HLA-DRB and -DQB haplotype in the 
      members of maternal pedigree and proband's father. The members of maternal 
      pedigree including both affected and unaffected Graves' disease had haplotypes of 
      DRB1*150101 and DQB1*0602, except for the cousin who had DRB1*140301 and 
      DQB1*030101. The haplotypes of DRB1*150101 and DQB1*0602 were different from 
      susceptible HLA types in Japanese childhood onset Graves' disease. However, two 
      cases of Graves' disease also had HLA types of DRB1*40501 and DQB1*0401, in 
      addition to the haplotypes of DRB1*150101 and DQB1*0602. There was no other 
      autoimmune disease including type 1 diabetes mellitus in their family. The 
      present findings indicated that familial Graves' disease was found mainly in the 
      maternal females and become overt during their teen-age years. They had new HLA 
      haplotypes distinct from those susceptibly in Japanese Graves' patients. Further 
      study will be necessary to analyze the mutant locus of DNA to elucidate 
      pathogenesis of familial Graves' disease.
FAU - Sasaki, Masami
AU  - Sasaki M
AD  - Department of Medicine, Jichi Medical University Omiya Medical Center, Saitama, 
      Japan.
FAU - Yuzawa, Miho
AU  - Yuzawa M
FAU - Saito, Tomoyuki
AU  - Saito T
FAU - Ikoma, Aki
AU  - Ikoma A
FAU - Tamemoto, Hiroyuki
AU  - Tamemoto H
FAU - Kawakami, Masanobu
AU  - Kawakami M
FAU - Ishikawa, San-E
AU  - Ishikawa SE
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20070904
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (Membrane Glycoproteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Family
MH  - Female
MH  - Graves Disease/*genetics
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ beta-Chains
MH  - HLA-DR Antigens/*genetics
MH  - HLA-DRB1 Chains
MH  - Haplotypes
MH  - Humans
MH  - Japan
MH  - Male
MH  - Membrane Glycoproteins/*genetics
MH  - Middle Aged
MH  - *Pedigree
MH  - Thyroid Function Tests
EDAT- 2007/09/06 09:00
MHDA- 2008/03/14 09:00
CRDT- 2007/09/06 09:00
PHST- 2007/09/06 09:00 [pubmed]
PHST- 2008/03/14 09:00 [medline]
PHST- 2007/09/06 09:00 [entrez]
AID - JST.JSTAGE/endocrj/K06-215 [pii]
AID - 10.1507/endocrj.k06-215 [doi]
PST - ppublish
SO  - Endocr J. 2007 Dec;54(5):721-5. doi: 10.1507/endocrj.k06-215. Epub 2007 Sep 4.