STAT6 gene implicated in endometriosis

January 2007

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.

Source

Bhanoori M, Deenadayal M, Kennedy S, Shivaji S. The G2964A 3′-untranslated region polymorphism of the signal transducer and activator of transcription 6 gene is associated with endometriosis in South Indian women. Hum Reprod 2007 [Epub ahead of print]