Analysis of the human progesterone receptor gene polymorphism progins in Austrian ovarian carcinoma patients

Ovarian carcinoma is the highest death cause in gynecologic malignancies. A lthough the molecular basis for familial breast and ovarian cancer is eluci dated, few genetic markers have been associated with sporadic ovarian carci noma. A polymorphism in intron G of the human progesterone receptor (PgR), caused by an Alu insertion, was described to be associated with ovarian car cinoma in a pooled German/Irish population. Later on, a G to T substitution in exon 4, causing a Valine to Leucine change in the hinge region of the r eceptor, and a synonymous C to T substitution in exon 5 were reported to be linked to the Alu insertion. This complex of the PgR gene polymorphism was designated PROGINS. In order to investigate if PROGINS is associated with risk for ovarian cancer in Austrian women, we analyzed DNA from 226 Austria n patients with sporadic ovarian carcinoma and a control group with 194 hea lthy volunteers for the PROGINS complex. The PROGINS status was studied in association with risk for ovarian carcinoma, the age of the ovarian patient s, the protein level of PgR and estrogen receptor (ER) and histopathologica l parameters. The results indicate that the frequency of PROGINS carriers i n Austrian women is similar to those in women in North America and England. There is no significant difference between the PROGINS allele distribution in ovarian carcinoma patients and healthy women. The PROGINS is not associ ated with increased risk for ovarian carcinomas. Additionally, the protein levels of ER and PgR were independent of the PROG INS status. (C) 2001 Wile y-Liss, Inc.