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HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals.

ABSTRACT: BACKGROUND:Acute mountain sickness (AMS) usually occurs among non-acclimated individuals after rapid ascending to high-altitude environments (generally ?2,500 m). However, the precise molecular mechanism of AMS remains unclear. Our study aimed to investigate the relationship between several single nucleotide polymorphisms (SNPs) and AMS susceptibility. METHODS:In this work, sequencing data were obtained from 69 AMS patients and 95 matched acclimated Han Chinese individuals from southwest China. Five SNPs (rs1008438, rs150877473, rs1799983, rs2153364, and rs3025039) were systematically investigated in all the participants. RESULTS:In our study, we found that allele frequencies of "A" (AMS 69.57% vs. non-AMS 54.74%) and "C" (AMS 30.43% vs. non-AMS 45.26%) in the HSPA1A gene rs1008438 were significantly different between the AMS and non-AMS groups (p = .01). Genotypes "CC" and "CA" of the HSPA1A gene (rs1008438) were associated with lower risk of developing AMS than the genotype "AA." Comparing the genotypes "CC + CA" and "AA," we also observed that the "CC + CA" genotype of rs1008438 was associated with lower AMS risk. CONCLUSIONS:In our case-control study, there was a significant association between the rs1008348 polymorphism and AMS susceptibility, suggesting that this particular SNP might be a Han-specific risk factor for AMS. We believe that this study establishes a foundation for further elucidation of the genetic mechanisms underlying AMS.

SUBMITTER: Liu Z

PROVIDER: S-EPMC7434611 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals.

Liu Zhicheng Z Chen Hong H Xu Ting T Wang Xiaomei X Yao Chunyan C

Molecular genetics & genomic medicine 20200601 8

<h4>Background</h4>Acute mountain sickness (AMS) usually occurs among non-acclimated individuals after rapid ascending to high-altitude environments (generally ≥2,500 m). However, the precise molecular mechanism of AMS remains unclear. Our study aimed to investigate the relationship between several single nucleotide polymorphisms (SNPs) and AMS susceptibility.<h4>Methods</h4>In this work, sequencing data were obtained from 69 AMS patients and 95 matched acclimated Han Chinese individuals from so ...[more]

PMID: 32478477

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Project description:BACKGROUND:More people ascend to high altitude (HA) for various activities, and some individuals are susceptible to HA illness after rapidly ascending from plains. Acute mountain sickness (AMS) is a general complaint that affects activities of daily living at HA. Although genomic association analyses suggest that single nucleotide polymorphisms (SNPs) are involved in the genesis of AMS, no major gene variants associated with AMS-related symptoms have been identified. METHODS:In this cross-sectional study, 604 young, healthy Chinese Han men were recruited in June and July of 2012 in Chengdu, and rapidly taken to above 3700?m by plane. Basic demographic parameters were collected at sea level, and heart rate, pulse oxygen saturation (SpO2), systolic and diastolic blood pressure and AMS-related symptoms were determined within 18-24?h after arriving in Lhasa. AMS patients were identified according to the latest Lake Louise scoring system (LLSS). Potential associations between variant genotypes and AMS/AMS-related symptoms were identified by logistic regression after adjusting for potential confounders (age, body mass index and smoking status). RESULTS:In total, 320 subjects (53.0%) were diagnosed with AMS, with no cases of high-altitude pulmonary edema or high-altitude cerebral edema. SpO2 was significantly lower in the AMS group than that in the non-AMS group (P?=?0.003). Four SNPs in hypoxia-inducible factor-related genes were found to be associated with AMS before multiple hypothesis testing correction. The rs6756667 (EPAS1) was associated with mild gastrointestinal symptoms (P?=?0.013), while rs3025039 (VEGFA) was related to mild headache (P?=?0.0007). The combination of rs6756667 GG and rs3025039 CT/TT further increased the risk of developing AMS (OR?=?2.70, P?<?0.001). CONCLUSIONS:Under the latest LLSS, we find that EPAS1 and VEGFA gene variants are related to AMS susceptibility through different AMS-related symptoms in the Chinese Han population; this tool might be useful for screening susceptible populations and predicting clinical symptoms leading to AMS before an individual reaches HA. TRIAL REGISTRATION:Chinese Clinical Trial Registration, ChiCTR-RCS-12002232 . Registered 31 May 2012.

Project description:Osteoporosis is a polygenic disorder and has been demonstrated to be associated with ~30 candidate genes, the majority of which have also been implicated in the regulation of bone mineral density (BMD). Vitamin D receptor (VDR) is the candidate gene that has been most extensively studied. Certain studies have reported that the VDR single nucleotide polymorphism ApaI is associated with the risk of osteoporosis in Caucasian and African women. However, this association has not yet been studied in postmenopausal Han Chinese women in the Xinjiang area. In the present study, ApaI polymorphisms of VDR were defined by polymerase chain reaction-restriction fragment length polymorphism, in order to analyze the distribution of ApaI polymorphisms in postmenopausal Han Chinese women from Xinjiang. BMD was measured by dual energy X-ray absorptiometry at the lumbar spine (L2-4), Ward's triangle, great trochanter and femoral shaft. A total of 336 women were included in this study. The genotype distribution of ApaI was consistent with the Hardy-Weinberg equilibrium (all P>0.05). There were no significant differences in ApaI genotype frequencies between the 90 cases in the osteoporosis group and 246 cases in the non-osteoporosis group (P=0.946). Meanwhile, it was identified that BMD values of the tested locations were negatively correlated with age (P<0.05) and positively correlated with body mass index (BMI; P<0.05). On further attribution risk analysis, BMD was identified as a risk factor [odds ratio (OR): 0.464, 95% confidence interval (CI): 0.372-0.580, P=0.001] and BMI a protective factor (OR: 1.502, 95% CI: 1.008-2.240, P=0.032) in osteoporosis. When BMD was adjusted for confounding factors including age and BMI, it was observed that the ApaI polymorphism was not associated with BMD at the sites tested (P>0.05). In conclusion, the present study identified no significant association of the common VDR polymorphism ApaI with BMD at several skeletal sites in postmenopausal Han Chinese women in the Xinjiang area. Age was negatively correlated with BMD at different sites and identified as a risk factor; while BMI was positively correlated with BMD and identified as a protective factor.

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HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals.

Publications

HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individuals.

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