BACKGROUND/AIMS: Engrailed-2 is a homeobox transcription factor that is expressed in mesencephalic dopaminergic neurons from development to adulthood and probably plays an important role in the survival of these neurons. METHODS: Here, we investigated six single-nucleotide polymorphisms (SNPs) in the promoter region (rs1345514) or transcribed part (rs3735653, rs6460013, rs1861972, rs2361689, and rs3808330) of the engrailed-2 gene, respectively, in 103 discordant pairs with young-onset Parkinson's disease (YOPD). RESULTS: The nominally significant p values in the single-marker and haplotype-based association analysis were suggestive of an association of SNP rs1345514 with YOPD. CONCLUSION: Altogether, our data suggest the possibility that variations of the engrailed-2 gene are implicated in the development of YOPD, although our results with respect to SNP rs1345514 should be verified in an independent sample.
BACKGROUND/AIMS: Engrailed-2 is a homeobox transcription factor that is expressed in mesencephalic dopaminergic neurons from development to adulthood and probably plays an important role in the survival of these neurons. METHODS: Here, we investigated six single-nucleotide polymorphisms (SNPs) in the promoter region (rs1345514) or transcribed part (rs3735653, rs6460013, rs1861972, rs2361689, and rs3808330) of the engrailed-2 gene, respectively, in 103 discordant pairs with young-onset Parkinson's disease (YOPD). RESULTS: The nominally significant p values in the single-marker and haplotype-based association analysis were suggestive of an association of SNP rs1345514 with YOPD. CONCLUSION: Altogether, our data suggest the possibility that variations of the engrailed-2 gene are implicated in the development of YOPD, although our results with respect to SNP rs1345514 should be verified in an independent sample.
Authors: Holly N Cukier; Hyunjin Kim; Anthony J Griswold; Simona G Codreanu; Lisa M Prince; Stacy D Sherrod; John A McLean; Derek M Dykxhoorn; Kevin C Ess; Peter Hedera; Aaron B Bowman; M Diana Neely Journal: NPJ Parkinsons Dis Date: 2022-06-29