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Interethnic differences in the distribution of matrix metalloproteinases genetic polymorphisms are consistent with

Riccardo Lacchini1, Ingrid F Metzger, Marcelo Luizon

  • 1Department of Pharmacology, Faculty of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil.

DNA and Cell Biology
|July 2, 2010
PubMed

Insights

Genetic differences in matrix metalloproteinase (MMP) gene variants are more common in Black populations than White populations. These MMP genetic variations may contribute to higher rates of cancer and cardiovascular diseases in Black individuals.

Area of Science:

  • Genetics
  • Molecular Biology
  • Population Health

Background:

  • Interethnic disparities in disease prevalence, particularly cancer and cardiovascular diseases, are well-documented.
  • Matrix metalloproteinases (MMPs) play a crucial role in these diseases through altered expression and activity.
  • Genetic variations in MMPs may underlie observed ethnic differences in disease susceptibility.

Purpose of the Study:

  • To investigate interethnic differences in the distribution of genetic variants and haplotypes of matrix metalloproteinase (MMP) genes between Black and White subjects.
  • To explore the potential association between these genetic variations and disparities in cancer and cardiovascular disease prevalence.

Main Methods:

  • Genotyping of specific polymorphisms in the MMP-2 and MMP-9 genes (C(-1306)T, C(-1562)T, -90(CA)(14-24), and Q279R) in 177 Black and 140 White individuals.
  • Comparison of allele and genotype frequencies between ethnic groups.
  • Estimation of haplotype frequencies and comparison with existing population databases (Hapmap, Seattle SNPs).

Main Results:

  • Significant interethnic differences were observed for the C(-1306)T (MMP-2), C(-1562)T (MMP-9), and -90(CA)(14-24) (MMP-9) polymorphisms, with higher frequencies of certain alleles in Black subjects.
  • No significant interethnic differences were found for the Q279R polymorphism in MMP-9.
  • Two haplotypes associated with 'detrimental' alleles were found at significantly higher frequencies in Black individuals compared to White individuals.

Conclusions:

  • The study confirms interethnic differences in the distribution of MMP-2 and MMP-9 genetic variants and haplotypes between Black and White populations.
  • These genetic variations may contribute to the higher prevalence of cancer and cardiovascular diseases observed in Black individuals.
  • The findings highlight the importance of considering ethnic-specific genetic factors in understanding disease etiology and developing targeted interventions.

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