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Background  Eukaryotic translation initiation factor 4-gamma 1 ( EIF4G1 ) gene mutations have recently been reported in autosomal dominant, late-onset Parkinson’s disease (LOPD). We carried out genetic analysis to determine the prevalence of  EIF4G1  variants in an ethnic Chinese population and to better understand the association between  EIF4G1  and PD.    Methods  We conducted a comprehensive genetic analysis of  EIF4G1  in a cohort of 29 probands of autosomal dominant, LOPD families. Polymerase chain reaction (PCR) analysis and sequencing was carried out of the entire  EIF4G1  exonic regions and exon-intron boundaries. Specific mutation and exonic variants were chosen for further sequencing in a case–control study including 503 sporadic PD and 508 healthy controls. Statistical significance was analyzed by the Chi-square test.    Results  Our analysis revealed three exonic variants (rs2230571, rs13319149 and rs2178403) and eight intronic variants across the entire  EIF4G1  gene. No reported mutations were detected in  EIF4G1  exonic regions. The synonymous coding variant rs2230571 in exon 27 and the eight intronic variants were not used for further sequencing, but the specific mutation c.3614G > A (p.R1205H) and the two nonsynonymous variants (rs13319149 and rs2178403) were chosen for further analysis in a case–control study. None of the 503 sporadic PD or 508 healthy controls carried p.R1205H, and there was no statistical significance in rs2178403 genotype or allele frequencies in  EIF4G1  between the PD cases and the healthy controls ( p  = 0.184 and  p  = 0.774, respectively; Chi-square test). The rs13319149 genotype in all PD cases and healthy controls was GG.    Conclusions  Our data indicate that in an ethnic Chinese population, the pathogenic mutation p.R1205H in  EIF4G1  is not common and that  EIF4G1  exonic variants rs2178403 and rs13319149 are not associated with PD.  EIF4G1  does not appear to be a frequent cause of PD in this ethnic Chinese population.

Analysis of EIF4G1 in ethnic Chinese