@article{3097912,
    title = "Candidate gene region for polycystic ovary syndrome on chromosome
19p13.2",
    author = "Urbanek, M and Woodroffe, A and Ewens, KG and Diamanti-Kandarakis, E and and Legro, RS and Strauss, JF and Dunaif, A and Spielman, RS",
    journal = "JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM",
    year = "2005",
    volume = "90",
    number = "12",
    pages = "6623-6629",
    publisher = "ENDOCRINE SOC",
    issn = "0021-972X",
    doi = "10.1210/jc.2005-0622",
    abstract = "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: The objective of this study was to duplicate a previous study
that localized a PCOS susceptibility region to chromosome 19p13.2 and to
narrow the susceptibility region.
Design: This study was designed to test for genetic linkage and
association between PCOS and short tandem repeat polymorphisms in 367
families, by analysis of linkage and family-based association.
Setting: The study was conducted at 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 sibling ( 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): The intervention was the drawing of blood for DNA
extraction.
Main Outcome Measure: We employed 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 ( chi(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. Additional studies that systematically
characterize DNA sequence variation in the immediate area of D19S884 are
required to identify the PCOS susceptibility variant."
}