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Submitted on March 21, 2005
Accepted on August 2, 2005
Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, IL; Department of Genetics, University of Pennsylvania, Philadelphia, PA; Endocrine Section of First Department of Internal Medicine, Athens University School of Medicine, Athens, Greece; Department of Obstetrics and Gynecology, Pennsylvania State University, Hershey, PA; Center for Research on Reproduction and Women's Health and Department of Obstetrics and Gynecology, University of Pennsylvania, Philadelphia, PA
* To whom correspondence should be addressed. E-mail: m-urbanek{at}northwestern.edu.
Context: Polycystic ovary syndrome (PCOS) is a common endocrine disorder that is believed to have a genetic basis. However, no specific susceptibility gene or region has been conclusively identified.
Objective: Duplicate a previous study that localized a PCOS susceptibility region to chromosome 19p13.2 and narrow the susceptibility region.
Design: Test for genetic linkage and association between PCOS and short tandem repeat (STR) polymorphisms in 367 families, by analysis of linkage and family-based association.
Setting: Academic medical centers.
Patients or Other Participants: We studied 367 families of predominantly European origin with at least one PCOS patient. Families included 107 affected sib (sister) pairs (ASPs) in 83 families, and 390 trios with both parents and an affected daughter. The data set comprises two independent groups. Set 1 consists of 44 ASPs and 163 trios. Set 2 consists of 63 ASPs and 227 trios.
Intervention(s): Draw blood for DNA extraction.
Main Outcome Measure(s): Measures of evidence for linkage and association between PCOS and 19 STRs.
Results: Linkage with PCOS was observed over a broad region of chromosome 19p13.2. The strongest evidence for association was observed with D19S884 (
2=11.85; nominal P < 0.0006; permutation P = 0.034) and duplicated our earlier findings.
Conclusions: The present analysis suggests that a PCOS susceptibility locus maps very close to D19S884. Further studies that systematically characterize DNA sequence variation in the immediate area of D19S884 are required to identify the PCOS susceptibility variant.
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