Journal Article


Peter A Robbins
Gianpiero L Cavalleri
Nayia Petousi
Amy M Cole



linkage disequilibrium phenotype high altitude chronic mountain sickness meta analysis life natural selection genetic variation

Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness. (2014)

Abstract 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=8.8x10(-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).
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed

Full list of authors on original publication

Peter A Robbins, Gianpiero L Cavalleri, Nayia Petousi, Amy M Cole

Experts in our system

Peter A Robbins
Royal College of Surgeons in Ireland
Total Publications: 6
Gianpiero L Cavalleri
Royal College of Surgeons in Ireland
Total Publications: 35