Population differences in DNA sequence variation and linkage disequilibrium at the PON1 gene

Y. Koda, Hidenori Tachida, M. Soejima, O. Takenaka, H. Kimura

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations. To characterize the genetic variation underlying these important polymorphisms, we examined DNA sequence variation both in a 1.3-kb promoter region 16.5 kb from codon 192, and in a 1.7-kb region centered on the 192Q/R polymorphic site of the coding region of PON1, in 30 Africans, 30 Europeans and 64 Japanese. We found 10 polymorphic sites and 11 haplotypes in the 1.3-kb promoter region and 10 biallelic polymorphic sites and 10 haplotypes in the 1.7-kb region. From the PON1 sequences of chimpanzees and an orangutan, the ancestral type of codon 192 was found to be R. The number of pairs of polymorphic sites between the promoter and 1.7-kb regions that were in significant linkage disequilibrium was much higher in a Japanese population than in African and European populations. In addition, the pairs of polymorphic sites in linkage disequilibrium differed among the three populations. These results suggest that some of the population differences in association with risk for coronary heart disease can be explained by population differences in haplotype frequency of PON1 haplotypes.

Original languageEnglish
Pages (from-to)110-119
Number of pages10
JournalAnnals of Human Genetics
Volume68
Issue number2
DOIs
Publication statusPublished - Mar 1 2004

Fingerprint

Aryldialkylphosphatase
Linkage Disequilibrium
Haplotypes
Genetic Promoter Regions
Population
Genes
Codon
Pongo
Pan troglodytes
Coronary Disease
Cardiovascular Diseases

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Population differences in DNA sequence variation and linkage disequilibrium at the PON1 gene. / Koda, Y.; Tachida, Hidenori; Soejima, M.; Takenaka, O.; Kimura, H.

In: Annals of Human Genetics, Vol. 68, No. 2, 01.03.2004, p. 110-119.

Research output: Contribution to journalArticle

Koda, Y. ; Tachida, Hidenori ; Soejima, M. ; Takenaka, O. ; Kimura, H. / Population differences in DNA sequence variation and linkage disequilibrium at the PON1 gene. In: Annals of Human Genetics. 2004 ; Vol. 68, No. 2. pp. 110-119.
@article{85ba6a6ea80144579207e1fbd81f3e7b,
title = "Population differences in DNA sequence variation and linkage disequilibrium at the PON1 gene",
abstract = "Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations. To characterize the genetic variation underlying these important polymorphisms, we examined DNA sequence variation both in a 1.3-kb promoter region 16.5 kb from codon 192, and in a 1.7-kb region centered on the 192Q/R polymorphic site of the coding region of PON1, in 30 Africans, 30 Europeans and 64 Japanese. We found 10 polymorphic sites and 11 haplotypes in the 1.3-kb promoter region and 10 biallelic polymorphic sites and 10 haplotypes in the 1.7-kb region. From the PON1 sequences of chimpanzees and an orangutan, the ancestral type of codon 192 was found to be R. The number of pairs of polymorphic sites between the promoter and 1.7-kb regions that were in significant linkage disequilibrium was much higher in a Japanese population than in African and European populations. In addition, the pairs of polymorphic sites in linkage disequilibrium differed among the three populations. These results suggest that some of the population differences in association with risk for coronary heart disease can be explained by population differences in haplotype frequency of PON1 haplotypes.",
author = "Y. Koda and Hidenori Tachida and M. Soejima and O. Takenaka and H. Kimura",
year = "2004",
month = "3",
day = "1",
doi = "10.1046/j.1529-8817.2003.00077.x",
language = "English",
volume = "68",
pages = "110--119",
journal = "Annals of Human Genetics",
issn = "0003-4800",
publisher = "Wiley-Blackwell",
number = "2",

}

TY - JOUR

T1 - Population differences in DNA sequence variation and linkage disequilibrium at the PON1 gene

AU - Koda, Y.

AU - Tachida, Hidenori

AU - Soejima, M.

AU - Takenaka, O.

AU - Kimura, H.

PY - 2004/3/1

Y1 - 2004/3/1

N2 - Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations. To characterize the genetic variation underlying these important polymorphisms, we examined DNA sequence variation both in a 1.3-kb promoter region 16.5 kb from codon 192, and in a 1.7-kb region centered on the 192Q/R polymorphic site of the coding region of PON1, in 30 Africans, 30 Europeans and 64 Japanese. We found 10 polymorphic sites and 11 haplotypes in the 1.3-kb promoter region and 10 biallelic polymorphic sites and 10 haplotypes in the 1.7-kb region. From the PON1 sequences of chimpanzees and an orangutan, the ancestral type of codon 192 was found to be R. The number of pairs of polymorphic sites between the promoter and 1.7-kb regions that were in significant linkage disequilibrium was much higher in a Japanese population than in African and European populations. In addition, the pairs of polymorphic sites in linkage disequilibrium differed among the three populations. These results suggest that some of the population differences in association with risk for coronary heart disease can be explained by population differences in haplotype frequency of PON1 haplotypes.

AB - Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations. To characterize the genetic variation underlying these important polymorphisms, we examined DNA sequence variation both in a 1.3-kb promoter region 16.5 kb from codon 192, and in a 1.7-kb region centered on the 192Q/R polymorphic site of the coding region of PON1, in 30 Africans, 30 Europeans and 64 Japanese. We found 10 polymorphic sites and 11 haplotypes in the 1.3-kb promoter region and 10 biallelic polymorphic sites and 10 haplotypes in the 1.7-kb region. From the PON1 sequences of chimpanzees and an orangutan, the ancestral type of codon 192 was found to be R. The number of pairs of polymorphic sites between the promoter and 1.7-kb regions that were in significant linkage disequilibrium was much higher in a Japanese population than in African and European populations. In addition, the pairs of polymorphic sites in linkage disequilibrium differed among the three populations. These results suggest that some of the population differences in association with risk for coronary heart disease can be explained by population differences in haplotype frequency of PON1 haplotypes.

UR - http://www.scopus.com/inward/record.url?scp=1642396610&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1642396610&partnerID=8YFLogxK

U2 - 10.1046/j.1529-8817.2003.00077.x

DO - 10.1046/j.1529-8817.2003.00077.x

M3 - Article

VL - 68

SP - 110

EP - 119

JO - Annals of Human Genetics

JF - Annals of Human Genetics

SN - 0003-4800

IS - 2

ER -