STAT6
gene implicated in endometriosis
Indian scientists have identified
the STAT6 gene G2964A 3'-UTR polymorphism as possibly
increasing women's risk of developing endometriosis.
Researchers in Southern India hypothesised that a
common G2964A single-nucleotide polymorphism (SNP) in
the 3'-untranslated region (UTR) of the STAT6 gene,
known to be associated with common immunological diseases
such as asthma and Crohn's disease, may play a role
in the aetiology of endometriosis.
Sisinthy Shivaji, from the Centre for Cellular and Molecular
Biology in Hyderabad, Andhra Pradesh, and co-investigators
therefore tested 232 women with endometriosis and 210
women with no evidence of disease for the G2964A SNP.
All the women were infertile.
They discovered that the distribution of the STAT6 G2964A
SNP genotype differed significantly between women with
endometriosis and controls.
In addition, the frequency of the STAT6 G2964A SNP differed
significantly between the cases and controls. Both the
distribution and frequency of the SNP varied between
groups according to codominant, dominant, and recessive
genotype models.
This team is the first to report an association between
the STAT6 G2964A 3'-UTR polymorphism and endometriosis
in South Indian women. This finding suggests that STAT6
may contribute to disease susceptibility in endometriosis,
which carries an extra interest as the gene lies in
a region which has been implicated, albeit weakly, in
a previous genomewide scan.
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