An Epidemiological Survey Of Acute Mountain Sickness In Healthy Men In A Sector Of Northwest China Based On SNP And Analysis Of Related Factors

Objective1.To investigate the incidence and related factors of acute mountain sickness in the population entering the Tibetan Ali region in an emergency,providing a theoretical basis for future risk assessment of the occurrence of acute mountain sickness and formulating targeted intervention measures.2.Combining altitude,mode of transportation,history of highland travel and other influencing factors,the expression network based on specific genes was established to provide more accurate risk warning for the occurrence of acute mountain sickness.Methods1.A retrospective study was conducted to collect 728 healthy men from Northwest China who entered the Tibetan Ali region in an emergency from September 2019 to September 2020.An epidemiological survey was performed on the collected subjects using a basic information questionnaire.They were divided into case and control groups using the Lake Louise Scoring System(LLSS).A comprehensive analysis of age,BMI,altitude,mode of transportation,plateau sojourn,and interventions was performed using chi-square test and logistic regression analysis.2.Venous blood was collected with the consent of the subjects,and peripheral blood whole genomic DNA extraction was extracted using a blood genomic DNA extraction kit.The DNA concentration and purity were measured using a UV spectrophotometer-American Thermoelectric ND2000,and the DNA samples were stored in the refrigerator at-20°C for freezing.3.96 SNPs that might be associated with the development of acute mountain sickness were searched in the database as candidate loci.The MASSARRAY nucleic acid mass spectrometry system from Agena Bioscience Inc was used to type all enrolled subjects for the SNP loci to be screened.The association of individual SNP locus polymorphisms with disease susceptibility was assessed by applying OR values in R software,and analyzed on three genetic models:co-dominant(GC vs GG;CC vs GG),dominant(GC+CC vs GG),and recessive(CC vs GC+GG)model.Results1.The chi-square test results showed statistically significant differences in the incidence of acute mountain sickness between altitude,transportation mode,plateau residence,and interventions(X~2=63.673,7.889,6.206,6.997,P<0.05).The results of binary logistic regression analysis showed that after altitude(>5000 m),plateau residence,and interventions entered the regression equation,the risk of acute mountain sickness was higher above 5000 m(OR=8.255,95%CI:4.305-15.829)using altitude(3000-4000 m)as a control.The risk of acute mountain sickness was lower for those with a history of altitude travel compared to those without altitude travel(OR=0.636,95%CI:0.419-0.967).The risk of acute mountain sickness was lower for those who had interventions before entering the plateau than for those who did not(OR=0.689,95%CI:0.478-0.992).2.The study subjects who met the inclusion criteria and underwent SNP were divided into 186 cases in the case group(total score>3,considered to have developed acute mountain sickness)and 209 cases in the control group(total score≤3,considered to have not developed acute mountain sickness)according to the Lake Louise Scoring Criteria for Acute Mountain Sickness.The measured DNA concentration and OD260/OD280 of the samples met the requirements of MASSARRAY flight mass spectrometry.3.The SNP loci with significant differences followed the Hardy Weinberg Equilibrium(HWE)with minor allele frequencies greater than 0.05 in both the case and control groups by chi-square test.OR values showed that EGLN1-rs479200 was on co-dominant and dominant models,EGLN1-rs12406290 was on co-dominant,dominant and recessive models,EGLN1-rs2790859 was on co-dominant,dominant and recessive models,EGLN1-rs480902 was on dominant models,and VEGFA-rs3025030 was on both co-dominant and dominant models statistically significant differences with the incidence of acute mountain sickness,P<0.05.The chi-square test showed there was a statistically significant difference between different genotype groupings of the EGLN1-rs479200 and the number of cases of malaise/weakness symptoms in patients with acute mountain sickness,and the Fisher test showed a statistically significant difference between different genotype groupings of the VEGFA-rs3025030 and the number of cases of sleep disorder symptoms in patients with acute mountain sickness(both P<0.05).Conclusions1.The occurrence of acute mountain sickness is the result of a combination of factors.The higher the altitude,the greater the risk of acute mountain sickness.High altitude clothing and interventions in advance can effectively reduce the occurrence of acute mountain sickness.2.The occurrence of acute mountain sickness is not the result of a single factor,it is associated with some specific SNPs,and the exploration of SNPs in genetic factors has population differences.The EGLN1-rs479200,rs12406290,rs2790859,rs480902,and VEGFA-rs3025030 may be associated with susceptibility of men to acute mountain sickness when they enter the plateau sharply in a population in northwest China.The EGLN1-rs479200 may be associated with symptoms of malaise/weakness and the VEGFA-rs3025030 may be associated with symptoms of sleep disorders.It is important to study the risk warning of the occurrence of acute mountain sickness,and further studies are needed in the future.