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Meta-analysis of low density lipoprotein receptor (LDLR) rs2228671 polymorphism and coronary heart disease

Huadan Ye1, Qianlei Zhao2, Yi Huang3

  • 1Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, Ningbo, Zhejiang 315211, China ; The Affiliated Hospital, School of Medicine, Ningbo University, Ningbo, Zhejiang 315211, China.

Biomed Research International
|June 6, 2014
PubMed

Insights

The LDLR rs2228671 polymorphism is associated with a reduced risk of coronary heart disease (CHD). However, this protective effect was observed in Europeans, not in the Han Chinese population, indicating ethnic differences.

Area of Science:

  • Genetics
  • Cardiovascular Disease Epidemiology
  • Biochemistry

Background:

  • Low-density lipoprotein receptor (LDLR) plays a crucial role in regulating cholesterol metabolism.
  • Disrupted cholesterol metabolism is a significant factor in the development of coronary heart disease (CHD).
  • The LDLR gene has been investigated for its association with CHD risk.

Purpose of the Study:

  • To evaluate the overall contribution of the LDLR rs2228671 polymorphism to CHD risk.
  • To combine data from multiple case-control studies for a comprehensive meta-analysis.
  • To investigate the association in the Chinese population and explore ethnic differences.

Main Methods:

  • Conducted a meta-analysis of 8 case-control studies involving 7588 cases and 9711 controls.
  • Performed a case-control study specifically on the Han Chinese population.
  • Analyzed the association between the LDLR rs2228671 polymorphism and CHD risk.

Main Results:

  • The meta-analysis revealed that the rs2228671-T allele is significantly associated with a reduced risk of CHD (OR = 0.83, P = 0.0005).
  • This protective association was primarily observed in European populations.
  • In the Han Chinese population, the rs2228671-T allele was rare (1%) and not significantly associated with CHD (P = 0.49).

Conclusions:

  • The LDLR rs2228671 polymorphism acts as a protective factor against CHD in European populations.
  • A significant ethnic difference in the association between LDLR rs2228671 and CHD risk exists between Chinese and European populations.
  • The findings highlight the importance of considering ethnicity in genetic association studies for complex diseases like CHD.

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