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SENP1, but not fetal hemoglobin, differentiates Andean highlanders with chronic mountain sickness from healthy individuals among Andean highlanders

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dc.contributor.author Hsieh, Matthew-M.
dc.contributor.author Callacondo, David
dc.contributor.author Rojas-Camayo, Jose
dc.contributor.author Quesada-Olarte, Jose
dc.contributor.author Wang, Xunde
dc.contributor.author Uchida, Naoya
dc.contributor.author Maric, Irina
dc.contributor.author Remaley, Alan-T.
dc.contributor.author Leon-Velarde, Fabiola
dc.contributor.author Villafuerte, Francisco-C.
dc.contributor.author Tisdale, John-F.
dc.date.accessioned 2019-02-06T14:45:35Z
dc.date.available 2019-02-06T14:45:35Z
dc.date.issued 2016
dc.identifier.uri https://hdl.handle.net/20.500.12866/5086
dc.description.abstract Chronic mountain sickness (CMS) results from chronic hypoxia. It is unclear why certain highlanders develop CMS. We hypothesized that modest increases in fetal hemoglobin (HbF) are associated with lower CMS severity. In this cross-sectional study, we found that HbF levels were normal (median = 0.4%) in all 153 adult Andean natives in Cerro de Pasco, Peru. Compared with healthy adults, the borderline elevated hemoglobin group frequently had symptoms (headaches, tinnitus, cyanosis, dilatation of veins) of CMS. Although the mean hemoglobin level differed between the healthy (17.1 g/dL) and CMS (22.3 g/dL) groups, mean plasma erythropoietin (EPO) levels were similar (healthy, 17.7 mIU/mL; CMS, 12.02 mIU/mL). Sanger sequencing determined that single-nucleotide polymorphisms in endothelial PAS domain 1 (EPAS1) and egl nine homolog 1 (EGLN1), associated with lower hemoglobin in Tibetans, were not identified in Andeans. Sanger sequencing of sentrin-specific protease 1 (SENP1) and acidic nuclear phosphoprotein 32 family, member D (ANP32D), in healthy and CMS individuals revealed that non-G/G genotypes were associated with higher CMS scores. No JAK2 V617F mutation was detected in CMS individuals. Thus, HbF and other classic erythropoietic parameters did not differ between healthy and CMS individuals. However, the non-G/G genotypes of SENP1 appeared to differentiate individuals with CMS from healthy Andean highlanders. en_US
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartof urn:issn:1873-2399
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Altitude en_US
dc.subject Fetal Hemoglobin en_US
dc.subject Adaptation, Physiological en_US
dc.subject Adolescent en_US
dc.subject Adult en_US
dc.subject Aged en_US
dc.subject Aged, 80 and over en_US
dc.subject Altitude Sickness/blood/diagnosis en_US
dc.subject Biomarkers en_US
dc.subject Chronic Disease en_US
dc.subject Cysteine Endopeptidases en_US
dc.subject Diagnosis, Differential en_US
dc.subject Endopeptidases/blood en_US
dc.subject Female en_US
dc.subject Humans en_US
dc.subject Male en_US
dc.subject Middle Aged en_US
dc.subject Oxygen/metabolism en_US
dc.subject Peru en_US
dc.subject Phenotype en_US
dc.subject Polycythemia/blood/diagnosis en_US
dc.subject Severity of Illness Index en_US
dc.subject Young Adult en_US
dc.title SENP1, but not fetal hemoglobin, differentiates Andean highlanders with chronic mountain sickness from healthy individuals among Andean highlanders en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1016/j.exphem.2016.02.010
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE


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