MTHFR genetic polymorphism as a risk factor in Egyptian mothers with Down syndrome children.pdf

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1、DiseaseMarkers24(2008)192619IOSPressMTHFRgeneticpolymorphismasariskfactorinEgyptianmotherswithDownsyndromechildrenNagwaA.Meguida,∗,AhmedA.Dardira,MohamedKhassb,LamiaElHossienyb,AfafEzzatcandMostafaK.ElAwadybaDepartmentofResearchonChildrenwithSpecialNeeds,NationalResearchCenter,Cairo,EgyptbDep

2、artmentofBiomedicalTechnology,NationalResearchCenter,Cairo,EgyptcDepartmentofNutritionandFoodScience,NationalResearchCenter,Cairo,EgyptAbstract.RecentreportslinkingDownsyndrome(DS)tomaternalpolymorphismsatthemethylenetetrahydrofolatereductase(MTHFR)genelocushavegeneratedgreatinterestamonginve

3、stigatorsinthefield.ThepresentstudyaimedatevaluationofMTHFR677C/Tand1298A/CpolymorphismsintheMTHFRgeneasmaternalriskfactorsforDS.FortytwomothersofprovenDSoutcomesandfortyeightcontrolmotherswithnormaloffspringwereincluded.Completemedicalandnutritionalhistoriesforallmothersweretakenwithspecialem

4、phasisonfolateintake.Folicacidintakefromfoodorvitaminsupplementswassignificantlylow(belowtheRecommendedDailyAllowance)inthegroupofcasemotherscomparedtocontrolmothers.FrequenciesofMTHFR677TandMTHFR1298Callelesweresignificantlyhigheramongcasemothers(32.1%and57.1%,respectively)comparedtocontrolmot

5、hers(18.7%and32.3%,respectively).HeterozygousandhomozygousgenotypefrequenciesofMTHFRatposition677(CTandTT)werehigheramongcasemothersthancontrols(40.5%versus25%and11.9%versus6.2%,respectively)withanoddsratioof2.34(95%confidenceinterval[CI]0.935.89)and2.75(95%CI0.9512.77),respectively.Interestin

6、gly,thehomozygousgenotypefrequency(CC)atposition1298wassignificantlyhigherincasemothersthanincontrols(33.3%versus2.1%respectively)withanoddsratioof31.5(95%CI3.51to282.33)indicatingthatthispolymorphismmayhavemoregeneticimpactthan677polymorphism.Heterozygousgenotype(AC)didnotshowsignificantdiffer

7、encebetweenthetwogroups.WeherereportonthefirstpilotstudyofthepossiblegeneticassociationbetweenDSandMTHFR1298A/CgenotypesamongEgyptians.Furtherextendedstudiesarerecommendedtoconfirmthepresentwork.Keywords:Methylenetetrahydrofolatereductase(MTHFR