Characterization of HPSE gene single nucleotide polymorphisms in Jewish populations of Israel

Olga Ostrovsky, Michael Korostishevsky, Iris Levite, Merav Leiba, Hanan Galski, Ephraim Gazit, Israel Vlodavsky, Arnon Nagler

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Heparanase is a mammalian endoglucuronidase responsible for heparan sulfate (HS) degradation. HS is a major constituent of the extracellular matrix (ECM) and HS-degrading activity plays a decisive role in fundamental biological processes associated with remodeling of the ECM, such as cancer metastasis, angiogenesis and inflammation. There is great interest in the prospect of genome-wide association studies to identify genetic factors underlying complex diseases. It is important to establish a detailed description of the heparanase (HPSE) gene single nucleotide polymorphisms (SNPs). In this study, four Israeli Jewish populations (Ashkenazi, North African, Mediterranean and Near Eastern) were examined for 7 HPSE gene SNPs. Four out of 7 SNPs (rs4693608, db11099592, rs4364254, db6856901) were found to be polymorphic. Population comparisons revealed significant differences in SNPs allele frequency between Near Eastern and each of the other three populations. Genotype and allele frequencies in Jewish populations were different from non-Jewish populations, except for a certain similarity to Caucasians. Although the distance between SNPs is relatively small, the db11099592 SNP was in linkage disequilibrium (LD) only with the proximal SNP rs4693608. LD between distal SNPs rs4364254 and db6856901 was found only in Mediterraneans and North Africans. The current study provides a characterization of the normally occurring HPSE gene SNPs in different populations. This information is obligatory for further studies on the linkage between these SNPs and heparanase expression and function in various pathological processes, primarily cancer progression.

Original languageEnglish
Pages (from-to)57-64
Number of pages8
JournalActa Haematologica
Volume117
Issue number1
DOIs
StatePublished - 1 Dec 2006
Externally publishedYes

Keywords

  • Heparanase
  • Linkage disequilibrium
  • Single nucleotide polymorphisms

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