PCOS is a common disorder of unknown etiology. Studies of first-degree rela
tives of women diagnosed with PCOS suggest familial clustering of the disea
se. A prospective study of first-degree female relatives of women with PCOS
conducted by NCPIR found that 46% of ascertainable sisters of women with P
COS were hyperandrogenemic. NCPIR has conducted linkage and association stu
dies using affected sibling-pair analysis and the transmission/disequilibri
um test to explore candidate PCOS genes. These studies point a finger at a
region 1 MB centromeric to the insulin receptor gene on chromosome 19.