rs1218596 - KCNN3 - PMVK

Magnitude 2.2 · 1 study on file

Reported associations

• Genome-Wide Association Study Identifies Two Novel Loci Associated with Female Stress and Urgency Urinary Incontinence. - The Journal of urology (2021) · Cartwright R, Franklin L, Tikkinen KAO, Kalliala I, Miotla P, Rechberger T, Offiah I, McMahon S, O'Reilly B, Lince S, Kluivers K, Post WM, Poelmans G, Palmer MR, Wessells H, Wong A, Kuh D, Kivimaki M, Kumari M, Mangino M, Spector T, Guggenheim JA, Lehne B, De Silva NMG, Evans DM, Lawlor D, Karhunen V, Männikkö M, Marczak M, Bennett PR, Khullar V, Järvelin MR, Walley A · PubMed 33904754

  Genome-wide association studies have not identified replicable genetic risk loci for stress or urgency urinary incontinence. We carried out a discovery stage, case control, genome-wide association study in 3 independent discovery cohorts of European women (8,979) for stress incontinence, urgency incontinence, and any incontinence phenotypes. We conducted replication in 6 additional studies of European ancestry (4,069). We collected bladder biopsies from women with incontinence (50) to further investigate bladder expression of implicated genes and pathways and used symptom questionnaires for phenotyping. We conducted meta-analyses using inverse variance fixed effects models and whole transcriptome analyses using Affymetrix® arrays with replication with TaqMan® polymerase chain reaction. I

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