Association between PCSK9 and LDLR gene polymorphisms with coronary heart disease: case-control study and

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Lina Zhang1, Fang Yuan, Panpan Liu

  • 1Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, Ningbo 315211, Zhejiang Province, China. zhanglina@nbu.edu.cn

Clinical Biochemistry
|February 6, 2013
PubMed

Insights

Genetic variations in PCSK9 and LDLR genes (rs11206510 and rs1122608) are linked to coronary heart disease (CHD) risk in Caucasians but not in Asians. Ethnic differences likely explain these varied associations with CHD susceptibility.

Area of Science:

  • Genetics
  • Cardiovascular Disease Epidemiology
  • Population Genetics

Background:

  • Coronary heart disease (CHD) is a leading cause of mortality worldwide.
  • Genetic polymorphisms in key genes like PCSK9 and LDLR are investigated for their role in CHD susceptibility.
  • Understanding ethnic variations in genetic associations is crucial for targeted prevention strategies.

Purpose of the Study:

  • To investigate the association of PCSK9 rs11206510 and LDLR rs1122608 polymorphisms with coronary heart disease (CHD) risk in the Han Chinese population.
  • To conduct meta-analyses to consolidate evidence on these polymorphisms and CHD risk across different ethnic groups.

Main Methods:

  • A case-control study involving 813 Han Chinese participants (290 CHD cases, 523 controls).
  • DNA genotyping using the SEQUENOM® Mass-ARRAY iPLEX® platform.
  • Two meta-analyses combining data from multiple case-control studies for each polymorphism.

Main Results:

  • No significant association was found between rs11206510 (PCSK9) or rs1122608 (LDLR) and CHD risk in the Han Chinese cohort.
  • Meta-analysis revealed significant associations for both SNPs with CHD in Caucasian populations (P<0.05).
  • Subgroup analysis showed significant heterogeneity in Caucasian populations for rs11206510 (I(2)=67.2%).

Conclusions:

  • The PCSK9 rs11206510 and LDLR rs1122608 polymorphisms are associated with CHD risk in Caucasians but not in Asians.
  • Genetic heterogeneity and distinct ethnic backgrounds contribute to the differing susceptibility to CHD.
  • Further research is needed to elucidate the complex interplay of genetics and ethnicity in CHD pathogenesis.
Abstract

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