Table 2 A summary of previously reported (*) and novel associations of POP variants with other traits.

From: Genome-wide association identifies seven loci for pelvic organ prolapse in Iceland and the UK Biobank

SNP [EA/OA]	Position hg38	EAF (%)	Gene	Trait	OR/β	(95% CI)	P	r²	Published*/Top SNP	PubmedID
rs3820282 [T/C]	1:22141722	17.17	WNT4	POP	0.85	(0.82, 0.88)	3.3 × 10⁻²¹
				Leiomyoma	1.12	(1.09, 1.16)	5.3 × 10⁻¹³	0.877	rs10917151*	30194396
				Gestational duration	0.058	(0.04, 0.08)	3.9 × 10⁻¹¹	0.878	rs56318008*	28877031
				Endometriosis	1.12	(1.06, 1.18)	1.1 × 10⁻⁵	0.945	rs12037376*	28537267^a
rs9306894 [G/A]	2:20678345	34.48	GDF7	POP	1.11	(1.09, 1.14)	3.4 × 10⁻¹⁷
				Prostate cancer	1.07	(1.04, 1.11)	6.2 × 10⁻⁶	0.996	rs9306895*	29892016^b
				BE and EA	1.09	(1.05, 1.14)	4.2 × 10⁻⁵	0.620	rs7255*	27527254
rs3791675 [T/C]	2:55884174	21.07	EFEMP1	POP	0.87	(0.88, 0.93)	2.7 × 10⁻¹⁷
				Inguinal hernia^c	0.82	(0.80, 0.84)	6.2 × 10⁻⁴⁴	0.960	rs59985551*	26686553
				Height	−0.081	(−0.07, −0.10)	6.7 × 10⁻²⁷	0.950	rs3791679*	25282103
				FEV1/FVC	0.033	(0.03, 0.04)	4.1 × 10⁻²⁴	1	rs3791675
				Carpal tunnel s.	1.11	(1.08, 1.15)	9.0 × 10⁻¹¹	0.960	rs191535629
				Ventral hernia	0.86	(0.81, 0.91)	5.9 × 10⁻⁸	0.950	rs3791679
				Waist circumference	−0.036	(−0.04, −0.03)	1.8 × 10⁻³⁵	0.950	rs3791679*	25673412
rs7682992 [T/A]	4:126037217	20.63	FAT4	POP	1.13	(1.10, 1.16)	4.6 × 10⁻¹⁶
rs7682992 [T/A]	4:126037217	20.63	FAT4	Stress incontinence^d	1.11	(1.06, 1.15)	6.4 × 10⁻⁷	0.640	rs2893158
rs1247943 [G/A]	12:114235616	46.03	TBX5	POP	1.09	(1.07, 1.12)	2.3 × 10⁻¹³
				BPH	0.92	(0.90, 0.94)	4.2 × 10⁻¹²	0.990	rs2555019*	30410027^e
				Prostate cancer	1.05	(1.02, 1.08)	1.8 × 10⁻³	0.814	rs1270884*	29892016^f
rs12325192 [T/C]	16:51454218	17.90	SALL1	POP	0.89	(0.87, 0.92)	2.8 × 10⁻¹²
rs12325192 [T/C]	16:51454218	17.90	SALL1	Leiomyoma	0.91	(0.88, 0.94)	4.0 × 10⁻⁹	0.936	rs66998222*	30194396

P P-value for fixed effects meta-analysis, OR odds ratio, β effect estimate (italic), EAF effect allele frequency (average of ICE and UK data), r² linkage disequilibrium between POP index variant and the corresponding variant listed, BE and EA Barrett’s oesophagus and esophageal adenocarcinoma combined, BPH benign prostatic hyperplasia, FEV1/FVC the ratio of forced expiratory volume and forced vital capacity.
Shown are association results consistent with a single signal origin, after performing conditional analysis using data from ICE and UKB (height and gestational duration is Iceland only, BE and EA is UKB only). Top variants are defined for each trait within ±500 kb from the POP variant at each locus. Variant locations are according to GRCh38/hg38. P and OR for rs3791675 are adjusted for the secondary signal rs1430191 in the POP phenotype (see Supplementary Data 4).
^aSee also Rahmioglu et al.⁶⁷.
^bOriginally reported in Amin Al Olama et al.¹⁰³.
^cRs59985551 is top variant for inguinal hernia in the combined data from ICE and UKB. The previously reported variant at the locus, rs2009262, associates with POP with P = 1.63 × 10⁻³⁶ (OR = 0.83) and is in r² = 0.85 with rs3791675.
^d1319 of the cases diagnosed with stress incontinence (ICD10 N393) are also diagnosed with POP.
^eTwo independent signals were reported at the 12q24.21 locus, rs2555019 and rs8853. Only rs2555019 is correlated with the POP variant rs1247943 (r² = 0.002 for rs8853).
^fOriginally reported in Eeles et al.⁶⁰.

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Table 2 A summary of previously reported (*) and novel associations of POP variants with other traits.

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