title: Single nucleotide polymorphisms of APOA1 gene and their relationship with serum apolipoprotein A-I concentrations in the native population of Assam.
abstract: BACKGROUND
  There is a growing interest in the role of allelic variants of the APOA1 gene in relation to a number of disorders. We described two common polymorphisms of the APOA1 gene, G-75A and C+83T and investigated their potential influence on the serum apolipoprotein A-I (apo A-I) levels in the native population of Assam - a region that is ethnically distinct and from where no information is hitherto available.
  
  
  METHODS
  Blood samples were collected from 150 healthy volunteers. Apo A-I levels were estimated by immunoturbidometry. Genotyping was done by a PCR-RFLP method that involved DNA extraction from whole blood, followed by polymerase chain reaction and digestion of the PCR product by MspI restriction enzyme, and analysis of fragment sizes in 12% polyacrylamide gel.
  
  
  RESULTS
  The GG variant at G-75A locus and CC variant at C+83T locus were the most prevalent. GG/CC was the most common combination. Homozygous TT genotype was not detected in any of the subjects. The rare allele frequencies for the G-75A and C+83T sites were found to be 0.22 and 0.06 respectively, which significantly differed from those reported in some other populations in neighbouring regions. Serum apo A-I concentrations did not vary significantly across the detected genotypes. These findings were consistent in both sexes.
  
  
  CONCLUSIONS
  We described the distribution of the G-75A and C+83T polymorphisms of the APOA1 gene in the population of Assam for the first time. These polymorphisms were not found to directly influence apo A-I concentrations in this population either individually or synergistically.
authors.affiliation: Gauhati Medical College and Hospital, Department of Biochemistry, Guwahati 781032, Assam, India.
authors.forename: Kaustubh
authors.initials: K
authors.lastname: Bora
authors.affiliation: Gauhati Medical College and Hospital, Department of Biochemistry, Guwahati 781032, Assam, India.
authors.forename: Mauchumi Saikia
authors.initials: MS
authors.lastname: Pathak
authors.affiliation: State Biotech Hub, College of Veterinary Science, Guwahati 781022, Assam, India.
authors.forename: Probodh
authors.initials: P
authors.lastname: Borah
authors.affiliation: State Biotech Hub, College of Veterinary Science, Guwahati 781022, Assam, India.
authors.forename: Md Iftikar
authors.initials: MI
authors.lastname: Hussain
authors.affiliation: Army Institute of Nursing, Guwahati 781029, Assam, India.
authors.forename: Dulmoni
authors.initials: D
authors.lastname: Das
keywords: APOA1; Assam; C+83T; G-75A; PCR-RFLP; Polymorphism