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Significant linkage evidence for a predisposition gene for pelvic floor disorders on chromosome 9q21

Kristina Allen-Brady1, Peggy A Norton, James M Farnham

  • 1Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT 84105, USA. kristina.allen@utah.edu

American Journal of Human Genetics
|April 28, 2009
PubMed

Insights

Genetic factors contributing to pelvic floor disorders (PFDs) are unclear. This study found significant evidence for a predisposition gene on chromosome 9q, suggesting a genetic link to PFDs.

Area of Science:

  • Genetics
  • Gynecology
  • Urology

Background:

  • Pelvic floor disorders (PFDs), including pelvic organ prolapse (POP), stress urinary incontinence (SUI), and urge urinary incontinence (UUI), have complex and poorly understood predisposition factors.
  • Identifying genetic components is crucial for understanding disease etiology and developing targeted interventions.

Purpose of the Study:

  • To investigate genetic linkage evidence for predisposition to PFDs.
  • To identify specific chromosomal regions associated with PFDs in families with affected members.

Main Methods:

  • Genotyped 70 women of European descent from 32 families with moderate-to-severe POP using a 1 million single-nucleotide polymorphism (SNP) marker set.
  • Performed parametric linkage analysis using Markov chain Monte Carlo (MCLINK) under dominant and recessive models.
  • Eliminated SNPs in high linkage disequilibrium to refine analysis.

Main Results:

  • Identified significant genome-wide evidence for linkage on chromosome 9q21 with a high logarithm of odds (HLOD) score of 3.41 under a recessive model.
  • Fifty-three percent of pedigrees showed nominal evidence for linkage in this region.
  • This suggests a specific chromosomal region harboring a potential predisposition gene for PFDs.

Conclusions:

  • The study provides compelling evidence for a predisposition gene for pelvic floor disorders located on chromosome 9q.
  • Further research is warranted to pinpoint the specific gene(s) and elucidate their role in PFD development.

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