Pelvic Organ Prolapse, Susceptibility To, 2

For a general phenotypic description and a discussion of genetic heterogeneity of pelvic organ prolapse, see 176780.

Mapping

Allen-Brady et al. (2009) genotyped 70 affected women of European descent from 32 eligible families with at least 2 affected cases of moderate to severe pelvic organ prolapse by using the Illumina 1 million SNP marker set. Parametric linkage analysis with general dominant and recessive models was performed by the Markov chain Monte Carlo linkage analysis method, and a set of SNPs was formed, from which those in high linkage disequilibrium were eliminated. Significant genomewide evidence for linkage was identified on chromosome 9q21 with a heterogeneity lod score of 3.41 under a recessive model. All markers between rs4077632 (80,353,293 bp) and rs10868525 (88,807,848 bp) in the chromosome 9q21 region exceeded hlod of 1.86. Seventeen pedigrees (53%) had at least nominal evidence for linkage on a by-pedigree basis at this region. Allen-Brady et al. (2009) concluded that their results provided evidence for a predisposition gene for pelvic floor disorders on chromosome 9q.