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Extensive association analysis between polymorphisms of PON gene cluster with coronary heart disease in Chinese Han

Xiaoling Wang1, Zhongjie Fan, Jianfeng Huang

  • 1Division of Population Genetics, Cardiovascular Institute and Fu Wai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing.

Arteriosclerosis, Thrombosis, and Vascular Biology
|February 18, 2003
PubMed

Insights

Genetic variations in the PON1 gene, specifically the -162G/A and R160G polymorphisms, are significantly associated with coronary heart disease (CHD) in the Chinese Han population.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Population Genetics

Background:

  • The paraoxonase (PON) gene cluster plays a role in lipid metabolism and oxidative stress.
  • Genetic variations within the PON gene cluster have been implicated in various diseases, including cardiovascular conditions.

Purpose of the Study:

  • To investigate the association between the PON gene cluster (PON1, PON2, PON3) and coronary heart disease (CHD) in the Chinese Han population.
  • To identify specific polymorphisms within the PON genes that are risk factors for CHD.

Main Methods:

  • Direct sequencing of genomic DNA to identify polymorphisms in PON1, PON2, and PON3.
  • Case-control association study involving 474 male patients with CHD and 475 controls.
  • Univariate and logistic regression analyses to assess the association of individual polymorphisms with CHD.
  • Haplotype analyses to evaluate combinations of polymorphisms.

Main Results:

  • Thirty polymorphisms were identified across PON1, PON2, and PON3.
  • Significant univariate associations were found for PON1 192Q, 160R, -162A alleles, and PON2 311C allele with CHD.
  • Logistic regression identified PON1 R160G and -162G/A polymorphisms as independently associated with CHD (P=0.0054 and P=0.0002, respectively).
  • Haplotype analysis confirmed associations, with higher frequencies of haplotypes containing the -162A allele and lower frequencies of haplotypes containing the 160G allele in cases.

Conclusions:

  • The PON1 -162G/A and R160G polymorphisms are independently associated with an increased risk of coronary heart disease in the Chinese Han population.
  • Further research is needed to elucidate the underlying biological mechanisms connecting these PON1 polymorphisms to CHD pathogenesis.
Abstract

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