Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Randomized Controlled Trial
. 2015 Feb;103(2):528-34.e13.
doi: 10.1016/j.fertnstert.2014.10.025. Epub 2014 Nov 20.

Follow-up to genome-wide linkage and admixture mapping studies implicates components of the extracellular matrix in susceptibility to and size of uterine fibroids

Brahim Aissani  1 , Kui Zhang  2 , Howard Wiener  3
Affiliations
Randomized Controlled Trial

Follow-up to genome-wide linkage and admixture mapping studies implicates components of the extracellular matrix in susceptibility to and size of uterine fibroids

Brahim Aissani et al. Fertil Steril. 2015 Feb.

Abstract

Objective: To conduct a follow-up association mapping to independent genome-wide linkage and admixture mapping studies of uterine leiomyoma.

Design: Case-control, cross-sectional study.

Setting: Not applicable.

Patient(s): A total of 1,045 premenopausal North American participants in the National Institute of Environmental Health Sciences Uterine Fibroid Study.

Intervention(s): None.

Main outcome measure(s): We genotyped 2,772 single-nucleotide polymorphisms from candidate genes located in peaks of linkage (2q37, 3p21, 5p13, 10p11, 11p15, 12q14, and 17q25) or admixture linkage disequilibrium (2q37, 4p16.1, and 10q26) mapping and reported to have regulated expression in uterine fibroids.

Result(s): We report significant associations of variant members of the collagen gene family with risk and tumor size, including missense variants in COL6A3 and COL13A, with replications in African American and European American study groups. Furthermore, the cell-matrix Rho GTPase-encoding ARHGAP26 gene, and MAN1C1, a gene encoding a Golgi mannosidase involved in the maturation of procollagens, emerged as new candidate uterine leiomyoma genes affecting both risk and tumor size.

Conclusion(s): Our data converge onto a possible model of uterine leiomyoma pathogenesis resulting from altered regulation, maintenance, and/or renewal of the extracellular matrix.

Keywords: NIEHS cohort; Polymorphism; collagen; extracellular matrix; fibroids; susceptibility.

PubMed Disclaimer

Conflict of interest statement

Disclosure

The authors of this manuscript have no conflict of interest to disclose.

References

    1. Cramer SF, Patel A. The frequency of uterine leiomyomas. Am J Clin Pathol. 1990;94:435–8. - PubMed
    1. Stewart EA. Uterine fibroids. Lancet. 2001;357:293–8. - PubMed
    1. Walker CL, Stewart EA. Uterine fibroids: the elephant in the room. Science. 2005;308:1589–92. - PubMed
    1. Keshavarz HHS, Kieke BA, Marchbanks PA. Hysterectomy surveillance—United States, 1994–1999. MMWR Morb Mortal Wkly Rep. 2002;51(SS05):1–8.
    1. Andersen J. Growth factors and cytokines in uterine leiomyomas. Semin Reprod Endocrinol. 1996;14:269–82. - PubMed

Publication types