Τίτλος:
Candidate gene region for polycystic ovary syndrome on chromosome
19p13.2
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Urbanek, M
Woodroffe, A
Ewens, KG
Diamanti-Kandarakis, E and
Legro, RS
Strauss, JF
Dunaif, A
Spielman, RS
Περιοδικό:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
DOI:
10.1210/jc.2005-0622
