A replication study and a meta-analysis of the association between the CDKN2A rs1333049 polymorphism and coronary

Jiangfang Lian1, Yanna Ba, Dongjun Dai

  • 1Ningbo Medical Center, Lihuili Hospital, Department of Cardiology, Ningbo University.

Insights

The rs1333049 genetic variant is associated with an increased risk of coronary heart disease (CHD) in Han Chinese individuals. This finding was supported by both a case-control study and a comprehensive meta-analysis.

Area of Science:

  • Genetics
  • Cardiovascular Disease Epidemiology

Background:

  • Coronary heart disease (CHD) remains a leading cause of mortality worldwide.
  • Identifying genetic risk factors is crucial for understanding CHD pathogenesis and developing preventative strategies.

Purpose of the Study:

  • To investigate the association between the rs1333049 single nucleotide polymorphism (SNP) and the risk of coronary heart disease (CHD) specifically in the Han Chinese population.
  • To conduct a meta-analysis to consolidate evidence on the contribution of rs1333049 to CHD risk across diverse populations.

Main Methods:

  • A case-control study involving 599 CHD patients and 591 non-CHD controls from the Han Chinese population.
  • A comprehensive meta-analysis incorporating 21 studies (25 stages) with 20,969 CHD cases and 34,114 controls.

Main Results:

  • The case-control study found that rs1333049 significantly increased CHD risk by 38% (OR=1.38).
  • Subgroup analyses revealed a higher risk increase in women (64%) compared to men (29%), and significant associations were observed in specific age groups.
  • The meta-analysis confirmed rs1333049 as a risk factor for CHD (OR=1.30), with increased risk observed in both Europeans (30%) and Asians (27%).

Conclusions:

  • The rs1333049 SNP is a significant risk marker for coronary heart disease.
  • This genetic variant contributes to CHD risk across different ethnicities and genders, highlighting its potential utility in risk assessment.
Abstract

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