Genetic Variation in SENP1 and ANP32D as Predictors of Chronic Mountain Sickness
| العنوان: | Genetic Variation in SENP1 and ANP32D as Predictors of Chronic Mountain Sickness |
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| المؤلفون: | Amy M. Cole, Peter A. Robbins, Nayia Petousi, Gianpiero L. Cavalleri |
| المصدر: | High altitude medicine and biology. 15(4) |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Adult, Male, Physiology, Biology, Altitude Sickness, Cohort Studies, Genetic variation, Endopeptidases, Peru, medicine, Humans, Altitude sickness, health care economics and organizations, Genetics, Public Health, Environmental and Occupational Health, Case-control study, Genetic Variation, Nuclear Proteins, General Medicine, Middle Aged, medicine.disease, Phosphoproteins, Cysteine Endopeptidases, Chronic disease, Chronic mountain sickness, Phenotype, Case-Control Studies, Chronic Disease, Brief Reports, Demography, Cohort study, Molecular Chaperones |
| الوصف: | Cole, Amy M., Nayia Petousi, Gianpiero L. Cavalleri, and Peter A. Robbins Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness. High Alt Med Biol 15:497-499, 2014.-Chronic mountain sickness (CMS) is a serious illness that affects life-long high-altitude residents. A recent study analyzed whole genome sequence data from residents of Cerro de Pasco (Peru) in an effort to identify the genetic basis of CMS and reported SENP1 (rs7963934) and ANP32D (rs72644851) to show signatures consistent with natural selection and protective against CMS (Zhou et al. 2013 ). We set out to replicate these observations in two Andean cohorts from Cerro de Pasco, consisting of 84 CMS cases and 91 healthy controls in total. We report evidence of association for rs7963934 (SENP1) in the combined cohorts (meta-analysis p=8.8 x 10(-4) OR 2.91, CI 1.56-5.5, I=0). The direction of effect was the same as in the original publication. We did not observe any significant correlation between rs72644851 (ANP32D) and the CMS phenotype, within or across cohorts (meta-analysis p=0.204, OR 1.37, CI 0.84-2.241, I=0). Our results provide independent evidence in support of a role for SENP1 in CMS in individuals of Quechua ancestry and suggest the SENP1 and ANP32D signatures of selection are in tight linkage disequilibrium (LD). |
| اللغة: | English |
| تدمد: | 1557-8682 1527-0297 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ec1936acc9005515b1585d0bcf4fdf http://ora.ox.ac.uk/objects/uuid:0ca5d805-60eb-4873-be88-ae55272ead3e |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....c3ec1936acc9005515b1585d0bcf4fdf |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15578682 15270297 |
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