6533b854fe1ef96bd12adfb0
RESEARCH PRODUCT
The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 Decreases Secretion of IL-22BP Isoform-1, -2 and -3 and Is Associated with Risk for Multiple Sclerosis
Uwe K. ZettlLaura Espino-paisánTamara Castillo-triviñoDavid OtaeguiIanire AstobizaVivian AltmannAitzkoa Lopez De Lapuente PortillaAitzkoa Lopez De Lapuente PortillaIraide AllozaChristian KubischSabine HoffjanKoen VandenbroeckXavier MontalbanAlfredo AntigüedadFelix LuessiBertrand FontaineFrauke ZippOrhan AktasPaloma Gómez-fernándezAndrew ChanAndoni UrtasunPierre-antoine GourraudChristina M. LillManuel ComabellaJorge MenaTania KümpfelMathias ButtmannMichael HeckerFuencisla MatesanzElena UrcelaySunny Malhotrasubject
Signal peptideGene isoformSignal peptidePopulationSingle-nucleotide polymorphismLocus (genetics)610 Medicine & healthBiologymultiple sclerosisMultiple sclerosis03 medical and health sciences0302 clinical medicineSNPIL-22 binding protein isoformsignal peptideddc:610Alleleeducation610 Medicine & healthlcsh:QH301-705.5Peptide sequence030304 developmental biology0303 health scienceseducation.field_of_studyautoimmuneGeneral MedicineMolecular biologylcsh:Biology (General)<i>IL22RA2</i>IL22RA2Mutation[SDV.IMM]Life Sciences [q-bio]/Immunologymutation030217 neurology & neurosurgeryAutoimmunedescription
The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a Basque population, rs28385692, a rare coding variant substituting Leu for Pro at position 16 emerged significantly (p = 0.02). This variant is located in the signal peptide (SP) shared by the three secreted protein isoforms produced by IL22RA2 (IL-22 binding protein-1(IL-22BPi1), IL-22BPi2 and IL-22BPi3). Genotyping was extended to a Europe-wide case-control dataset and yielded high significance in the full dataset (p = 3.17 ×
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2020-01-10 |