PMID- 19165231
OWN - NLM
STAT- MEDLINE
DCOM- 20100203
LR  - 20201209
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 54
IP  - 2
DP  - 2009 Feb
TI  - HLA-DPB1 and NFKBIL1 may confer the susceptibility to chronic thromboembolic 
      pulmonary hypertension in the absence of deep vein thrombosis.
PG  - 108-14
LID - 10.1038/jhg.2008.15 [doi]
AB  - Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by 
      pulmonary hypertension caused by thromboembolism of the pulmonary artery. 
      Etiology of CTEPH may be heterogeneous and is largely unknown, but genetic 
      factors are considered to be involved in the etiology. It has been reported that 
      deep vein thrombosis (DVT) and/or coagulation factor variants are predisposing 
      factors to CTEPH. However, more than half of the CTEPH patients, especially the 
      Japanese, do not have prior DVT or coagulation abnormality, suggesting that there 
      should be other risk factors for CTEPH. Moreover, there are several reports on 
      the association between CTEPH and human leukocyte antigen (HLA). To further 
      clarify the HLA-linked gene(s) controlling the susceptibility to CTEPH, 160 
      patients (99 without DVT and 61 with DVT) and 380 healthy controls were analyzed 
      for polymorphisms in 15 microsatellite markers and 5 genes in the HLA region. We 
      found a strong association of HLA markers with the DVT-negative CTEPH, 
      DPB1(*)0202 (odds ratio (OR)=5.07, 95% confidence interval (CI)=2.52-10.19, 
      P=0.00000075, corrected P-value (Pc)=0.00014), IKBL-p(*)03 (OR=2.33, 95% 
      CI=1.49-3.66, P=0.00017, Pc=0.033) and B(*)5201 (OR=2.47, 95% CI=1.56-3.90, 
      P=0.000086, Pc=0.016), whereas no significant association was observed for the 
      DVT-positive CTEPH. The comparison of clinical characteristics of patients 
      stratified by the presence of susceptibility genes implied that the DPB1 gene 
      controlled the severity of the vascular lesion, whereas the IKBL gene (NFKBIL1) 
      was associated with a relatively mild phenotype.
FAU - Kominami, Satoshi
AU  - Kominami S
AD  - Department of Respiratology, Graduate School of Medicine, Chiba University, 
      Chiba, Japan.
FAU - Tanabe, Nobuhiro
AU  - Tanabe N
FAU - Ota, Masao
AU  - Ota M
FAU - Naruse, Taeko K
AU  - Naruse TK
FAU - Katsuyama, Yoshihiko
AU  - Katsuyama Y
FAU - Nakanishi, Norifumu
AU  - Nakanishi N
FAU - Tomoike, Hitonobu
AU  - Tomoike H
FAU - Sakuma, Masahito
AU  - Sakuma M
FAU - Shirato, Kunio
AU  - Shirato K
FAU - Takahashi, Megumi
AU  - Takahashi M
FAU - Shibata, Hiroki
AU  - Shibata H
FAU - Yasunami, Michio
AU  - Yasunami M
FAU - Chen, Zhiyong
AU  - Chen Z
FAU - Kasahara, Yasunori
AU  - Kasahara Y
FAU - Tatsumi, Koichiro
AU  - Tatsumi K
FAU - Kuriyama, Takayuki
AU  - Kuriyama T
FAU - Kimura, Akinori
AU  - Kimura A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090123
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (HLA-DP Antigens)
RN  - 0 (HLA-DP beta-Chains)
RN  - 0 (HLA-DPB1 antigen)
RN  - 0 (Histocompatibility Antigens Class II)
RN  - 0 (NFKBIL1 protein, human)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing
MH  - Adult
MH  - Alleles
MH  - Demography
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - HLA-DP Antigens/*genetics
MH  - HLA-DP beta-Chains
MH  - Histocompatibility Antigens Class II/*genetics
MH  - Humans
MH  - Hypertension, Pulmonary/*complications/*genetics
MH  - Linkage Disequilibrium/genetics
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Middle Aged
MH  - Thromboembolism/*complications/genetics
MH  - Venous Thrombosis/complications/*genetics
EDAT- 2009/01/24 09:00
MHDA- 2010/02/04 06:00
CRDT- 2009/01/24 09:00
PHST- 2009/01/24 09:00 [entrez]
PHST- 2009/01/24 09:00 [pubmed]
PHST- 2010/02/04 06:00 [medline]
AID - jhg200815 [pii]
AID - 10.1038/jhg.2008.15 [doi]
PST - ppublish
SO  - J Hum Genet. 2009 Feb;54(2):108-14. doi: 10.1038/jhg.2008.15. Epub 2009 Jan 23.