Association between the SERPING1 Gene and Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Japanese 英文参考文献.docVIP

AssociationbetweentheSERPING1GeneandAge- RelatedMacularDegenerationandPolypoidalChoroidal VasculopathyinJapanese IsaoNakata1,2,KenjiYamashiro1*,RyoYamada2,NorimotoGotoh1,2,HideoNakanishi1,2 ,Hisako Hayashi1,2,AkitakaTsujikawa1,AtsushiOtani1,MasaakiSaito3,TomohiroIida3,AkioOishi4 ,Keitaro Matsuo5,KazuoTajima5,FumihikoMatsuda2,NagahisaYoshimura1 1DepartmentofOphthalmologyandVisualSciences,KyotoUniversityGraduateSchoolofMedicine,Kyoto,Japan,2CenterforGenomicMedicine/InsermU.852,Kyoto University Graduate School of Medicine, Kyoto, Japan, 3Department of Ophthalmology, Fukushima Medical University, Fukushima, Japan, 4Department of Ophthalmology, Kobe City Medical Center General Hospital,Kobe, Japan, 5Division ofEpidemiologyandPrevention,Aichi Cancer Center Research Institute, Nagoya, Japan Abstract Purpose: Recently, a complement component 1 inhibitor (SERPING1) gene polymorphism was identified as a novel risk factorforage-relatedmaculardegeneration(AMD)inCaucasians.WeaimedtoinvestigatewhethervariationsinSERPING1 areassociatedwithtypicalAMDorwithpolypoidalchoroidalvasculopathy(PCV)inaJapanesepopulation. Methods:Weperformedacase-controlstudyinagroupofJapanesepatientswithtypicalAMD(n=401)orPCV(n=510) andin2independentcontrolgroups—336cataractpatientswithoutage-relatedmaculopathyand1,194healthyJapanese individuals.Differencesintheobservedgenotypicdistributionbetweenthecaseandcontrolgroupsweretestedusingchi- squaretestfortrend.Ageandgenderwereadjustedusinglogisticregressionanalysis. Results: We targetedrs2511989as thehaplotype-tagging singlenucleotidepolymorphism (SNP)forthe SERPING1 gene, whichwasreportedtobeassociatedwiththeriskofAMDinCaucasians.Althoughwecomparedthegenotypicdistributions of rs2511989 in typical AMD and PCV patients against 2 independent control groups (cataract patients and healthy Japanese individuals), SERPING1 rs2511989 was not significantly associated with typical AMD (P=0.932 and 0.513, respectively)orPCV(P=0.505and0.141,respectively).Aftercorr