ArticleHuman genetics2007
Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 5 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
38 citing papers in PubMed, 5 syntheses or guidelines pooled it, 82 citations in OpenAlex.
- Mouse Knockout Models for Pelvic Organ Prolapse: a Systematic Review.International urogynecology journal · 2022Pooled it
- Systematic review and meta-analysis of genetic association studies of pelvic organ prolapse.International urogynecology journal · 2022Pooled it
- Systematic review and metaanalysis of genetic association studies of urinary symptoms and prolapse in women.American journal of obstetrics and gynecology · 2015Pooled it
- Genetic epidemiology of pelvic organ prolapse: a systematic review.American journal of obstetrics and gynecology · 2014Pooled it
- A systematic review of clinical studies on hereditary factors in pelvic organ prolapse.International urogynecology journal · 2012Pooled it
- Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations.BioMed research international · 2015Trial
- Review
- Genetics of Female Pelvic Organ Prolapse: Up to Date.Biomolecules · 2024Review
- Potential molecular targets for intervention in pelvic organ prolapse.Frontiers in medicine · 2023Review
- Common variants in LAMC1 confer risk for pelvic organ prolapse in Chinese population.Hereditas · 2020Article
- Genetic association in female stress urinary incontinence based on proteomic findings: a case-control study.International urogynecology journal · 2020Article
- Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women.International urogynecology journal · 2020Article
- Oxidative status of cardinal ligament in pelvic organ prolapse.Experimental and therapeutic medicine · 2018Article
- The relationship between L-leucine-7-amido-4-methyl coumarin 1 gene polymorphism and susceptibility to the chronic hepatitis B virus infection in an Iranian population.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2018Article
- Evidence for pelvic organ prolapse predisposition genes on chromosomes 10 and 17.American journal of obstetrics and gynecology · 2015Article
- Exome sequencing identifies a novel gene, WNK1, for susceptibility to pelvic organ prolapse (POP).PloS one · 2015Article
- Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative.PloS one · 2015Article
- Collagen type III alpha 1 polymorphism (rs1800255, COL3A1 2209 G>A) assessed with high-resolution melting analysis is not associated with pelvic organ prolapse in the Dutch population.International urogynecology journal · 2014Article
- HOXA11 and MMP2 gene expression in uterosacral ligaments of women with pelvic organ prolapse.Journal of the Turkish German Gynecological Association · 2014Article
- Phenotyping clinical disorders: lessons learned from pelvic organ prolapse.American journal of obstetrics and gynecology · 2013Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pelvic organ prolapse is a common condition, affecting up to a third of women throughout their lifetime. Genetic factors are believed to account for about 30% of the incidence, and are the least understood component of the disorder. Familial cases, particularly those in which prolapse manifests in young women, are especially valuable in the effort to find the genes involved. We recently reported autosomal dominant transmission as the most likely mode of inheritance, based on a collection of families with high incidence of prolapse. Of greatest interest was a family in which three generations of female relatives suffered from prolapse at a very young age. A genome-wide linkage scan performed using the Affymetrix GeneChip Human mapping 10K array identified ten regions with a LOD score of 1.5, the maximum possible for this family. Candidate genes within those regions were analyzed for expression in vaginal tissue by RT-PCR. Of the genes confirmed to be expressed, LAMC1 was further evaluated by sequencing and select single nucleotide polymorphism (SNP) genotyping for causative sequence variants in affected family members. We identified one such SNP, rs10911193. The rare T variant segregating with the condition is present at a frequency of 4.9% in the general population and 22% among probands from our cohort of families. It affects the binding site for NFIL3, a transcription factor that we verified to be co-expressed in vaginal tissue. Altogether these data suggest that a polymorphism in the promoter of LAMC1 may increase the susceptibility to early-onset pelvic organ prolapse.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.