Expressive

rs12122043 (LINC01735/LINC02769): Prolapse GWAS

Key takeaways

  • rs12122043 lies between LINC01735 and LINC02769, both long intergenic non-coding RNA genes
  • This variant is catalogued from a genome-wide association study of pelvic organ prolapse in African American and Hispanic women
  • No association in that study reached genome-wide significance; evidence for this locus is preliminary
  • Pelvic organ prolapse affects up to 40% of postmenopausal women; genetic risk likely varies by ancestry
  • Independent replication of any signal at this locus has not been reported

Key takeaways

  • rs12122043 lies between LINC01735 and LINC02769, both long intergenic non-coding RNA (lncRNA) genes
  • This variant is catalogued from a genome-wide association study (GWAS) of pelvic organ prolapse in African American and Hispanic women
  • No association in that study reached genome-wide significance; evidence for this locus is preliminary
  • Pelvic organ prolapse affects up to 40% of postmenopausal women; genetic risk likely varies by ancestry
  • Independent replication of any signal at this locus has not been reported

What the research says A GWAS of pelvic organ prolapse (POP) - a condition in which pelvic organs descend toward or beyond the vaginal wall - was conducted within the Women's Health Initiative hormone therapy trial, enrolling African American and Hispanic postmenopausal women with 1,274 grade-0 (no prolapse) controls and 1,427 cases of any-grade POP (grades 1-3); a secondary analysis used 317 moderate/severe cases (grades 2-3). Race-specific logistic regression and inverse-variance fixed-effect meta-analysis were applied, adjusting for age, body mass index, parity, and genetic ancestry. No variant in the study reached the genome-wide significance threshold of p < 5×10^-8, and the authors concluded that larger studies in minority populations are needed.

Reported associations

  • Pelvic organ prolapse (any severity, grades 1-3): Examined in the GWAS described above (1,427 cases vs. 1,274 controls in African American and Hispanic women); the locus did not reach genome-wide significance, and no specific effect size or p-value for rs12122043 is reported in the available source literature
  • Moderate/severe pelvic organ prolapse (grades 2-3): A subset of 317 cases was also analyzed; suggestive signals (p < 10^-6) were identified at several loci across the full dataset, though none are attributed specifically to this locus in the available source literature

Evidence quality The sole available source is a single GWAS of POP drawn from African American and Hispanic women in the Women's Health Initiative-SHARe dataset (1,274 controls, 1,427 any-grade cases, 317 moderate/severe cases). No variant reached genome-wide significance (p < 5×10^-8), and no specific p-value or odds ratio is reported for rs12122043 in the source literature. The study authors noted that prior POP genetics research focused predominantly on European-ancestry women and that the absence of genome-wide significant findings likely reflects limited statistical power at the sample sizes available. No independent replication of any association at this locus has been published in the provided literature. Overall, evidence for this variant is preliminary and should be interpreted with caution.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs12122043 associated with?

rs12122043 is located near LINC01735 and LINC02769 and was examined in a genome-wide association study of pelvic organ prolapse in African American and Hispanic women. No statistically robust association has been established for this specific variant.

What are LINC01735 and LINC02769?

LINC01735 and LINC02769 are long intergenic non-coding RNA genes. The LINC designation means these genes produce RNA molecules but not proteins; their biological roles are an active area of research.

Is rs12122043 linked to pelvic organ prolapse?

This variant falls within a region studied in a pelvic organ prolapse GWAS in African American and Hispanic women, but no association reached genome-wide significance. The evidence is preliminary and requires replication in larger, diverse cohorts.

What is pelvic organ prolapse and who is at risk?

Pelvic organ prolapse occurs when pelvic organs such as the bladder, uterus, or rectum descend toward or beyond the vaginal wall. It affects up to 40% of postmenopausal women, with risk shaped by age, parity, body weight, and genetic factors that may differ across ancestries.

Why was this pelvic organ prolapse study focused on minority women?

Most prior genetic studies of pelvic organ prolapse enrolled predominantly European-ancestry women. The Women's Health Initiative study aimed to address this gap by examining African American and Hispanic postmenopausal women, populations in which genetic risk patterns may differ.