Table 1 Association results for lead variants at loci reaching genome-wide significance in a meta-analysis of pelvic organ prolapse.

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

SNP	Pos hg38^a and cytoband	Annotation	EAF (%)	EA	OA	Gene^b	LD class	Pop.	OR^c (95% CI)	P	Info	P_het
rs3820282	chr1:22,141,722 1p36.12	Intron	17.17	T	C	WNT4	23	Ice	0.83 (0.78, 0.90)	1.0 × 10⁻⁶	1.00
								UKB	0.85 (0.82, 0.89)	5.0 × 10⁻¹⁶	1.00
								Meta	0.85 (0.82, 0.88)	3.3 × 10⁻²¹		0.62
rs9306894	chr2:20,678,345 2p24.1	3' UTR	34.48	G	A	GDF7	5	Ice	1.10 (1.04, 1.16)	1.7 × 10⁻³	1.00
								UKB	1.12 (1.09, 1.15)	4.1 × 10⁻¹⁵	1.00
								Meta	1.11 (1.09, 1.14)	3.4 × 10⁻¹⁷		0.51
rs1430191	chr2:55,806,292 2p16.1	Intergenic	47.85	T	C	EFEMP1	3	Ice	1.15 (1.08, 1.22)	5.4 × 10⁻⁶	1.00
								UKB	1.07 (1.04, 1.10)	5.2 × 10⁻⁶	0.99
								Meta	1.09 (1.06, 1.12)	1.0 × 10⁻⁹		0.034
rs3791675	chr2:55,884,174 2p16.1	Intron	21.07	T	C	EFEMP1	30	Ice	0.81 (0.74, 0.87)	9.3 × 10⁻⁸	1.00
								UKB	0.88 (0.85, 0.92)	6.0 × 10⁻¹²	1.00
								Meta	0.87 (0.84, 0.90)	2.7 × 10⁻¹⁷		0.034
rs7682992	chr4:126,037,217 4q28.1	Intergenic	20.63	T	A	FAT4	78	Ice	1.21 (1.13, 1.29)	1.0 × 10⁻⁸	1.00
								UKB	1.11 (1.07, 1.15)	6.7 × 10⁻¹⁰	1.00
								Meta	1.13 (1.10, 1.16)	4.5 × 10⁻¹⁶		0.027
rs72624976	chr7:128,392,779 7q32.1	3′ UTR	4.87	T	C	IMPDH1	5	Ice	0.74 (0.65, 0.84)	3.4 × 10⁻⁶	1.00
								UKB	0.82 (0.76, 0.88)	1.0 × 10⁻⁷	0.94
								Meta	0.80 (0.75, 0.85)	4.0 × 10⁻¹²		0.18
rs1247943	chr12:114,235,616 12q24.21	Intergenic	46.03	G	A	TBX5	10	Ice	1.10 (1.05, 1.17)	3.3 × 10⁻⁴	1.00
								UKB	1.09 (1.06, 1.12)	1.5 × 10⁻¹⁰	1.00
								Meta	1.09 (1.07, 1.12)	2.3 × 10⁻¹³		0.73
rs12325192	chr16:51,454,218 16q12.1	Intergenic	17.90	T	C	SALL1	20	Ice	0.93 (0.86, 1.00)	0.045	1.00
								UKB	0.89 (0.86, 0.92)	1.3 × 10⁻¹¹	1.00
								Meta	0.89 (0.87, 0.92)	2.8 × 10⁻¹²		0.32

P P-value, OR odds ratio, Phet P-value for heterogeneity in the effect estimate between the Icelandic and UK Biobank data, EAF effect allele frequency (average of ICE and UKB), EA effect allele, OA other allele, info imputation information score, LD linkage disequilibrium, Pop. population. Results of the meta-analysis of the GWA-studies from Iceland (Ice) and UKB are shown in italics.
^aVariant positions (chromosome:position) are according to GRCh38/hg38.
^bFor intergenic variants, nearest gene is reported.
^cOdds-ratios correspond to effect alleles.
^dTwo distinct signals were detected at the 2p16.1 locus, rs3791675 and rs1430191. OR and P for rs3791675 are conditioned on rs1430191 and vice versa.

Back to article page

Table 1 Association results for lead variants at loci reaching genome-wide significance in a meta-analysis of pelvic organ prolapse.

Search

Quick links