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.