title: Association of hsp70-2 and hsp-hom gene polymorphisms with risk of acute high-altitude illness in a Chinese population.
abstract: High-altitude illness (HAI) is a potentially fatal condition involving genetic and environmental components. Accumulated experimental evidence suggests that heat shock proteins (Hsps), especially HSP70, can protect cells and organs against different types of damage. We investigated whether genetic variation in constitutive and inducible hsp70 genes could be associated with risk of HAI. The association between polymorphisms of the HSP70 family genes and risk of HAI was determined in 56 patients with HAI and in 100 matched controls by genotyping for the polymorphisms +190 G/C, +1267 A/G, 2437 G/C in the hsp70-1, hsp70-2, and hsp70-hom genes by using polymerase chain reaction-restriction fragment length polymorphism. The data showed that there was no statistically significant difference in the genotype and allele distributions of hsp70-1, in hsp70-2 allele and hsp70-2 A/A and A/B genotypes, and in allele distribution of hsp70-hom among patients with HAI and controls (chi2 test, P > 0.05). However, there was a significantly higher frequency of hsp70-2 B/B and hsp70-hom A/A and B/B genotypes and a significantly lower frequency of the hsp70-hom A/B genotype in the HAI patients compared with the controls (P < 0.05 for all). The risk associated with the hsp70-2 B/B and hsp70-hom A/A, A/B, and B/B genotypes were 4.017 (95% CI = 1.496-10.781; P = 0.004), 2.434 (95% CI = 1.184-5.003; P = 0.012), 0.299 (95% CI = 0.148-0.602, P = 0.001), and 5.880 (95% CI =1.145-30.196, P = 0.026), respectively. Our results suggest that individuals with hsp70-2 B/B and hsp70-hom A/B and B/B genotypes may be more susceptible to HAI, whereas those with hsp70-hom A/B genotype may be tolerant to HAI. Further studies in individuals of different age and sex are warranted to elucidate the underlying mechanisms of this association and the possible functions of different genotypes of hsp70-2 and hsp70-hom under hypoxic stress.
authors.affiliation: Institute of Occupational Medicine, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Zhou
authors.forename: Feng
authors.initials: F
authors.lastname: Wang
authors.forename: Fangze
authors.initials: F
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Yuan
authors.forename: Huasong
authors.initials: H
authors.lastname: Zeng
authors.forename: Qingyi
authors.initials: Q
authors.lastname: Wei
authors.forename: Robert M
authors.initials: RM
authors.lastname: Tanguay
authors.forename: Tangchun
authors.initials: T
authors.lastname: Wu
mesh_terms: D000328:Adult; D000532:Altitude Sickness / Q000235:genetics*; D002681:China; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics*; D050884:HSP72 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012044:Regression Analysis; D012307:Risk Factors
chemical_list: D018840:HSP70 Heat-Shock Proteins; D050884:HSP72 Heat-Shock Proteins; C091879:HSPA2 protein, human