The D19S884 marker at the insulin receptor gene locus and the polycystic ovary syndrome.

The polycystic ovary syndrome (PCOS), as defined by chronic hyperandrogenic oligo-ovulation, is one of the most common human endocrinopathy, affecting 5%–10% of women of fertile age (1). The increasing evidence that PCOS has a genetic basis has stimulated research into genes involved in its pathogenesis. Despite significant efforts, the precise genetic mechanisms leading to PCOS remain unknown, suggesting that this disorder is a complex trait in terms of inheritance. We studied 108 PCOS patients (50 from Spain and 58 from Italy) and 66 healthy controls (37 from Spain and 29 from Italy). All the subjects were Caucasian. The relative contribution of any specific genomic variant may be different in each particular population, depending not only on other genomic abnormalities, but also on environmental factors such as lifestyle, diet, and exercise, and prevalence of obesity. These factors may be relevant for the discrepancy between our present results and those of previous studies (4, 5). The interest in the D19S884 marker studied here results from its closeness to INSR, and the possibility that this marker, or an associated genomic abnormality, influences insulin sensitivity. In conclusion, our present results do not support any significant association of the D19S884 marker and PCOS in women from Spain and Italy.