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Sequencing the exons of human glucocorticoid receptor (NR3C1) gene in Han Chinese with high-altitude pulmonary edema.

Abstract High-altitude pulmonary edema (HAPE) is a serious acute mountain sickness that mainly occurs in non-acclimatized individuals after rapid ascent to high altitude. The precise etiology of HAPE remains unclear. This study aimed to investigate whether NR3C1 gene polymorphism is associated with the susceptibility to HAPE.
PMID
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Authors

Mayor MeshTerms
Keywords

Exon

HAPE

NR3C1

SNP

Susceptibility

Journal Title journal of physiological anthropology
Publication Year Start




PMID- 29587872
OWN - NLM
STAT- MEDLINE
DCOM- 20180412
LR  - 20180412
IS  - 1880-6805 (Electronic)
IS  - 1880-6791 (Linking)
VI  - 37
IP  - 1
DP  - 2018 Mar 27
TI  - Sequencing the exons of human glucocorticoid receptor (NR3C1) gene in Han Chinese
      with high-altitude pulmonary edema.
PG  - 7
LID - 10.1186/s40101-018-0168-8 [doi]
AB  - BACKGROUND: High-altitude pulmonary edema (HAPE) is a serious acute mountain
      sickness that mainly occurs in non-acclimatized individuals after rapid ascent to
      high altitude. The precise etiology of HAPE remains unclear. This study aimed to 
      investigate whether NR3C1 gene polymorphism is associated with the susceptibility
      to HAPE. METHODS: The exons of NR3C1 gene were sequenced by a ABI 3730 DNA
      analyzer in 133 HAPE patients and matched 135 healthy Han Chinese controls from
      the Yushu area in Qinghai (the altitude greater than 3500 m). RESULTS: DNA
      sequencing showed the heterozygous substitutions at codon 588 (rs6194) in exon 6 
      and 766 (rs6196) in exon 9 of NR3C1 gene. The genotypic distributions and allelic
      frequencies of NR3C1 SNP rs6194 showed significant differences in two groups (P <
      0.05). The frequencies of the C allele were significantly higher in the HAPE
      group than in the control group (P < 0.05) with an odds ratio of 3.009 (95% CI = 
      1.250-7.244). There were no differences in genotypic and allelic frequencies in
      rs6196 polymorphism between the two groups. CONCLUSIONS: NR3C1 gene rs6194
      polymorphism is correlated with HAPE susceptibility. CC genotype and C allele of 
      rs6194 polymorphism might increase the risk of HAPE in Han Chinese.
FAU - Du, Hui
AU  - Du H
AD  - Department of Basic Medical Sciences, Medical College, Qinghai University,
      Xining, 810001, Qinghai, China.
AD  - Research Center for High Altitude Medical Sciences, Medical College, Qinghai
      University, Xining, 810001, Qinghai, China.
FAU - Zhao, Jing
AU  - Zhao J
AD  - Department of Basic Medical Sciences, Medical College, Qinghai University,
      Xining, 810001, Qinghai, China.
FAU - Su, Zhanhai
AU  - Su Z
AD  - Department of Basic Medical Sciences, Medical College, Qinghai University,
      Xining, 810001, Qinghai, China.
FAU - Liu, Yongnian
AU  - Liu Y
AD  - Department of Basic Medical Sciences, Medical College, Qinghai University,
      Xining, 810001, Qinghai, China.
FAU - Yang, Yingzhong
AU  - Yang Y
AD  - Department of Basic Medical Sciences, Medical College, Qinghai University,
      Xining, 810001, Qinghai, China. [email protected]
AD  - Research Center for High Altitude Medical Sciences, Medical College, Qinghai
      University, Xining, 810001, Qinghai, China. [email protected]
LA  - eng
GR  - 2016-ZJ-706/Basic Applied Study Foundation of Qinghai
PT  - Journal Article
DEP - 20180327
PL  - England
TA  - J Physiol Anthropol
JT  - Journal of physiological anthropology
JID - 101269653
RN  - 0 (NR3C1 protein, human)
RN  - 0 (Receptors, Glucocorticoid)
RN  - Pulmonary edema of mountaineers
SB  - IM
MH  - Adult
MH  - Altitude Sickness/epidemiology/*genetics
MH  - Asian Continental Ancestry Group/*genetics/statistics & numerical data
MH  - China
MH  - Exons/*genetics
MH  - Gene Frequency
MH  - Genotype
MH  - Humans
MH  - Hypertension, Pulmonary/epidemiology/*genetics
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Receptors, Glucocorticoid/*genetics
MH  - Sequence Analysis, DNA
PMC - PMC5869773
OTO - NOTNLM
OT  - Exon
OT  - HAPE
OT  - NR3C1
OT  - SNP
OT  - Susceptibility
EDAT- 2018/03/29 06:00
MHDA- 2018/04/13 06:00
CRDT- 2018/03/29 06:00
PHST- 2018/01/24 00:00 [received]
PHST- 2018/03/13 00:00 [accepted]
PHST- 2018/03/29 06:00 [entrez]
PHST- 2018/03/29 06:00 [pubmed]
PHST- 2018/04/13 06:00 [medline]
AID - 10.1186/s40101-018-0168-8 [doi]
AID - 10.1186/s40101-018-0168-8 [pii]
PST - epublish
SO  - J Physiol Anthropol. 2018 Mar 27;37(1):7. doi: 10.1186/s40101-018-0168-8.