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A genome wide association study identifies new genes potentially associated with eyelid sagging

dc.rights.licenseopenen_US
dc.contributor.authorLAVILLE, V.
dc.contributor.authorLE CLERC, S.
dc.contributor.authorEZZEDINE, K.
dc.contributor.authorJDID, R.
dc.contributor.authorTAING, L.
dc.contributor.authorLABIB, T.
dc.contributor.authorCOULONGES, C.
dc.contributor.authorULVELING, D.
dc.contributor.authorGALAN, P.
dc.contributor.authorGUINOT, C.
dc.contributor.authorFEZEU, L.
dc.contributor.authorMORIZOT, F.
dc.contributor.authorLATREILLE, J.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorMALVY, Denis
dc.contributor.authorTSCHACHLER, E.
dc.contributor.authorZAGURY, J. F.
dc.date.accessioned2020-06-24T08:39:20Z
dc.date.available2020-06-24T08:39:20Z
dc.date.issued2019-08
dc.identifier.issn0906-6705en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/8131
dc.description.abstractEnSagging eyelid is considered as an outward of skin ageing and may cause medical issues. However, little is known about the factors involved in sagging eyelid. The study, which aims at determining genetic risk factors for eyelid sagging, was conducted in a cohort of 502 unrelated Caucasian women living in the Paris region. All included participants were aged between 44 and 70 years old (mean age, 57.6 years old). The severity of sagging eyelid was graded in 6 categories by a dermatologist using standardized photographs of the face. A genome wide association study adjusted on potential risk factors (including age and smoking habits) was conducted to identify genetic associations. Two single nucleotide polymorphisms in total linkage disequilibrium on chromosome 10, rs16927253 (P = 7.07 x 10(-10) ) and rs4746957 (P = 1.06 x 10(-8) ), were significantly associated with eyelid sagging severity. The rs16927253-T and rs4746957-A alleles showed a dominant protective effect towards eyelid sagging. These polymorphisms are located in intronic parts of the H2AFY2 gene which encodes a member of the H2A histone family and very close to the AIFM2 gene that induces apoptosis. Additionally, single nucleotide polymorphisms with a false discovery rate below 0.25 were located nearby the type XIII collagen COL13A1 gene on chromosome 10 and in the ADAMTS18 gene on chromosome 16. Several relevant genes were identified by the genome wide association study for their potential role in the sagging eyelid severity.
dc.language.isoENen_US
dc.subject.enIDLIC
dc.title.enA genome wide association study identifies new genes potentially associated with eyelid sagging
dc.title.alternativeExp Dermatolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/exd.13559en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed29654602en_US
bordeaux.journalExperimental dermatologyen_US
bordeaux.page892-898en_US
bordeaux.volume28en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue8en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Experimental%20dermatology&rft.date=2019-08&rft.volume=28&rft.issue=8&rft.spage=892-898&rft.epage=892-898&rft.eissn=0906-6705&rft.issn=0906-6705&rft.au=LAVILLE,%20V.&LE%20CLERC,%20S.&EZZEDINE,%20K.&JDID,%20R.&TAING,%20L.&rft.genre=article


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