title: Analysis of EIF4G1 in ethnic Chinese.
abstract: 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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central south university, xiangya road, Changsha, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Li
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Ming-xing
authors.initials: MX
authors.lastname: Lou
authors.forename: Zhan-yun
authors.initials: ZY
authors.lastname: Lv
authors.forename: Zhen-hua
authors.initials: ZH
authors.lastname: Liu
authors.forename: Yun
authors.initials: Y
authors.lastname: Tian
authors.forename: Cheng-yuan
authors.initials: CY
authors.lastname: Song
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Xin-xiang
authors.initials: XX
authors.lastname: Yan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D039603:Eukaryotic Initiation Factor-4G / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology* / Q000235:genetics*
chemical_list: C113920:EIF4G1 protein, human; D039603:Eukaryotic Initiation Factor-4G