title: High allele frequency of CYP2C9*3 (rs1057910) in a Negrito's subtribe population in Malaysia; Aboriginal people of Jahai.
abstract: BACKGROUND
  CYP2C9 gene polymorphisms modulate inter-individual variations in the human body's responses to various endogenous and exogenous drug substrates. To date, little is known about the CYP2C9 gene polymorphisms among the aboriginal populations of the world, including those in Malaysia.
  
  
  OBJECTIVE
  To characterise and compare the CYP2C9 polymorphisms (CYP2C9*2, CYP2C9*3, CYP2C9*4 and CYP2C9*5) between one of Malaysia's aboriginal populations, Jahai, with the national major ethnic, Malay. To also compare the allele frequencies from these two populations with available data of other aboriginal populations around the world.
  
  
  METHODS
  The extracted DNA of 155 Jahais and 183 Malays was genotyped for CYP2C9 polymorphisms using a nested multiplex allele-specific polymerase chain reaction technique. The results were confirmed by DNA direct sequencing.
  
  
  RESULTS
  Genotyping results revealed that CYP2C9*2, CYP2C9*4 and CYP2C9*5 were absent in Jahais, while only the latter two were absent in Malays. The CYP2C9*3 allelic frequency in Jahais was 36.2%, making them the most frequent carriers of the allele thus far reported in any ethnic group from Southeast Asia.
  
  
  CONCLUSIONS
  The high frequency of CYP2C9*3 and the absence of CYP2C9*2 in Jahais suggest that genetic drift may be occurring in this ethnic group. This is the first study to determine the CYP2C9 polymorphisms in an aboriginal population in Malaysia.
authors.affiliation: a Department of Paediatrics , School of Medical Sciences, Universiti Sains Malaysia , Health Campus, Kubang Kerian , Kelantan , Malaysia .
authors.forename: Rasmaizatul Akma
authors.initials: RA
authors.lastname: Rosdi
authors.affiliation: b Advanced Medical and Dental Institute, Universiti Sains Malaysia , Bertam, Kepala Batas , Pulau Pinang , Malaysia .
authors.forename: Narazah
authors.initials: N
authors.lastname: Mohd Yusoff
authors.affiliation: c Centre of Excellence for Research in AIDS (CERiA) , Level 17, Wisma RND, Jalan Pantai Baharu , Kuala Lumpur , Malaysia .
authors.forename: Rusli
authors.initials: R
authors.lastname: Ismail
authors.affiliation: d Institute for Research in Molecular Medicine (INFORMM), Universiti Sains Malaysia , Main Campus, Jalan Inovasi, Gelugor , Penang , Malaysia .
authors.forename: Tan
authors.initials: T
authors.lastname: Soo Choon
authors.affiliation: b Advanced Medical and Dental Institute, Universiti Sains Malaysia , Bertam, Kepala Batas , Pulau Pinang , Malaysia .
authors.forename: Mohamed
authors.initials: M
authors.lastname: Saleem
authors.affiliation: e Institute for Research in Molecular Medicine (INFORMM), Universiti Sains Malaysia , Health Campus, Kubang Kerian , Kelantan , Malaysia , and.
authors.forename: Nurfadhlina
authors.initials: N
authors.lastname: Musa
authors.affiliation: a Department of Paediatrics , School of Medical Sciences, Universiti Sains Malaysia , Health Campus, Kubang Kerian , Kelantan , Malaysia .|f Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia , Health Campus, Kubang Kerian , Kelantan , Malaysia.
authors.forename: Surini
authors.initials: S
authors.lastname: Yusoff
mesh_terms: D000328:Adult; D065729:Cytochrome P-450 CYP2C9 / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D006801:Humans; D008296:Malaysia; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D044382:Population Groups / Q000235:genetics*
chemical_list: D065729:Cytochrome P-450 CYP2C9
keywords: Cytochrome P450 2C9; Malaysian population; genetic polymorphism; indigenous people; minority ethnic