Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/60465
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Type: Journal article
Title: Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries
Author: Prodoehl, M.
Hatzirodos, N.
Irving-Rodgers, H.
Zhao, Z.
Painter, J.
Hickey, T.
Gibson, M.
Rainey, W.
Carr, B.
Mason, H.
Norman, R.
Montgomery, G.
Rodgers, R.
Citation: Molecular Human Reproduction, 2009; 15(12):829-841
Publisher: Oxford Univ Press
Issue Date: 2009
ISSN: 1360-9947
1460-2407
Statement of
Responsibility: 
Mark J. Prodoehl, Nicholas Hatzirodos, Helen F. Irving-Rodgers, Zhen Z. Zhao, Jodie N. Painter, Theresa E. Hickey, Mark A. Gibson, William E. Rainey, Bruce R. Carr, Helen D. Mason, Robert J. Norman, Grant W. Montgomery, and Raymond J. Rodgers
Abstract: Several studies have demonstrated an association between polycystic ovary syndrome (PCOS) and the dinucleotide repeat microsatellite marker D19S884, which is located in intron 55 of the fibrillin-3 (FBN3) gene. Fibrillins, including FBN1 and 2, interact with latent transforming growth factor (TGF)-β-binding proteins (LTBP) and thereby control the bioactivity of TGFβs. TGFβs stimulate fibroblast replication and collagen production. The PCOS ovarian phenotype includes increased stromal collagen and expansion of the ovarian cortex, features feasibly influenced by abnormal fibrillin expression. To examine a possible role of fibrillins in PCOS, particularly FBN3, we undertook tagging and functional single nucleotide polymorphism (SNP) analysis (32 SNPs including 10 that generate non-synonymous amino acid changes) using DNA from 173 PCOS patients and 194 controls. No SNP showed a significant association with PCOS and alleles of most SNPs showed almost identical population frequencies between PCOS and control subjects. No significant differences were observed for microsatellite D19S884. In human PCO stroma/cortex (n = 4) and non-PCO ovarian stroma (n = 9), follicles (n = 3) and corpora lutea (n = 3) and in human ovarian cancer cell lines (KGN, SKOV-3, OVCAR-3, OVCAR-5), FBN1 mRNA levels were approximately 100 times greater than FBN2 and 200–1000-fold greater than FBN3. Expression of LTBP-1 mRNA was 3-fold greater than LTBP-2. We conclude that FBN3 appears to have little involvement in PCOS but cannot rule out that other markers in the region of chromosome 19p13.2 are associated with PCOS or that FBN3 expression occurs in other organs and that this may be influencing the PCOS phenotype.
Keywords: fibrillin
latent-transforming growth factor b-binding protein
polycystic ovary syndrome
ovary
Rights: © The Author 2009. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology.
DOI: 10.1093/molehr/gap072
Appears in Collections:Aurora harvest 5
Obstetrics and Gynaecology publications

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