Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity 英文参考文献.docVIP

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Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity 英文参考文献.doc

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Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity 英文参考文献

GeneticVarianceintheSpinocerebellarAtaxiaType2 (ATXN2)GeneinChildrenwithSevereEarlyOnset Obesity KarlaP.Figueroa1,SadafFarooqi2,KristopherHarrup1,JohnathanFrank3,StephenO’Rahilly2,StefanM. Pulst1,4 * 1Department of Neurology, University of Utah, Salt Lake City, Utah, United States of America, 2Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke’s Hospital, University of Cambridge, Cambridge, United Kingdom, 3David Geffen Medical School, University of California Los Angeles, Los Angeles, California,UnitedStatesofAmerica,4PrograminNeurosciencesandBrainInstitute,UniversityofUtah,SaltLakeCity,Utah,UnitedStatesofAmerica Abstract Background:ExpansionofaCAGrepeatinthecodingregionofexon1intheATXN2genelocatedinhumanchromosome 12q24.1 causes the neurodegenerative disease spinocerebellar ataxia type 2 (SCA2). In contrast to other polyglutamine (polyQ)disorders,theSCA2repeatisnothighlypolymorphicincentralEuropean(CEU)controlswithQ22representing90% ofalleles,andQ23contributingbetween5–7%ofalleles.Recently,theATXN2CAGrepeathasbeenidentifiedasatargetof adaptiveselectionintheCEUpopulation.Mouselinesdeficientforatxn2developmarkedhyperphagiaandobesityraising the possibility that loss-of-function mutations in the ATXN2 gene may be related to energy balance in humans. Some linkage studies of obesity related phenotypes such as antipsychotic induced weight gain have reported significant lod scoresonchromosome12q24.Wetestedthehypothesisthatrareloss-of-functionATXN2variantscauseobesityanalogous toraremutationsintheleptin,leptinreceptorandMC4Rgenes. Methodology/Principal Findings: We sequenced the coding region of ATXN2 including intron-exon boundaries in 92 severelyobesechildrenwithabodymassindex(BMI).3.2standarddeviationsaboveage-andgender-adjustedmeans.We confirmed five previously identified single nucleotide polymorphisms (SNPs) and three new SNPs resulting in two synonymoussubstitutionsandoneintronicpolymorphism.Allelesencoding.Q22wereoverrepresentedinoursample