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

Autor: Hui Du, Jing Zhao, Zhanhai Su, Yongnian Liu, Yingzhong Yang
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Journal of Physiological Anthropology, Vol 37, Iss 1, Pp 1-5 (2018)
Druh dokumentu: article
ISSN: 1880-6805
DOI: 10.1186/s40101-018-0168-8
Popis: Abstract 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
Databáze: Directory of Open Access Journals