Table 2.
Gene | SNP | Phenotype | Studies, n | Sample with minor allelea | Pooled OR | I2 % | Deviation from HWEb | Proteus effect | Harbord test P value | Funnel plot | Genotyping QC | Risk of population stratification | Venice rating | Overall credibility |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADRB3 | rs4994 | OAB | 2 | 136 | 2.46 | 0.0 | None | None | n/a | n/a | Not reported | Yes38c | BBB | Moderate |
COL1A1 | rs1800012 | SUI | 2 | 92 | 2.09 | 0.0 | Yes46 | None | n/a | n/a | Not reported | Low | CBC | Weak |
POP | 4 | 249 | 1.33 | 0.0 | None | None | .88 | Symmetric | Not reported | Yes41,42c | BBB | Moderate | ||
COL3A1 | rs1800255 | POP | 2 | 257 | 1.19 | 0.0 | None | Yes | n/a | n/a | Not reported49/appropriate50 | None | BCB | Weak |
rs111929073 | POP | 2 | 115 | 0.56 | 83.7 | None | None | n/a | n/a | Not reported | Yes52c | BCB | Weak | |
LAMC1 | rs10911193 | POP | 4 | 218 | 1.12 | 0.0 | None | None | .97 | Symmetric | Appropriate54,55/not reported56 | Low | BCB | Weak |
rs20563 | POP | 3 | 525 | 1.12 | 0.0 | None | None | .86 | Symmetric | Appropriate | Low | BCA | Weak | |
rs20558 | POP | 3 | 551 | 1.12 | 0.0 | None | None | .93 | Symmetric | Appropriate | Low | BCA | Weak | |
MMP1 | rs1799750 | POP | 2 | 234 | 0.83 | 74.9 | Yes61 | Yes | n/a | n/a | Not reported | Low | BCC | Weak |
SUI | 2 | 150 | 0.88 | 3.4 | None | None | n/a | n/a | Not reported | Yes60c | BCC | Weak | ||
MMP3 | rs3025058 | POP | 2 | 381 | 1.11 | 0.0 | Yes61 | None | n/a | n/a | Not reported | Low | BCC | Weak |
MMP9 | rs3918242 | POP | 2 | 99 | 1.25 | 0.0 | None | None | n/a | n/a | Not reported | Low | CCC | Weak |
rs17576 | POP | 3 | 473 | 1.05 | 68.9 | None | None | .72 | Symmetric | Not reported57/appropriate54 | Low | BCB | Weak |
Three-letter code corresponds to A through C ratings of amount of evidence, its consistency, and its protection from bias (Supplementary Figure).
HWE, Hardy Weinberg Equilibrium; OAB, overactive bladder; OR, odds ratio; POP, pelvic organ prolapse; QC, quality control; SNP, single-nucleotide polymorphism; SUI, stress urinary incontinence.
Cartwright. Genetic association studies of LUTS and POP. Am J Obstet Gynecol 2015.
Pooled sample size of participants with minor allele
Checked in controls and whole population, and metaanalysis rechecked excluding studies with significant departure
Studies each include populations with mixed descent groups without reported adjustment.