Table 1 Overview of 22 loci that have not been reported in association with UL in prior studies

From: Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Locus

Chr:Pos (hg38)

Nearest gene(s)

Candidate gene(s)

rsID

EA

EAF

OR (95% CI)

P value

HetPVal

INFOFinnGen

FIN enr.

META-1

1q43

1:241860596

EXO1

EXO1, FH

rs4149909

G

0.03

1.13 (1.08-1.18)

1.16E-08

0.265

0.996

1.03

1q44

1:244151650

ZBTB18, C1orf100

ZBTB18, AKT3

rs2183478

G

0.18

1.07 (1.05-1.09)

1.75E-11

0.774

0.969

1.57

2q33.3

2:207258660

MYOSLID, KLF7

MYOSLID

rs10804157

C

0.44

1.04 (1.03-1.05)

1.04E-08

0.143

0.994

0.87

3q27.2

3:185807411

IGF2BP2

IGF2BP2

rs13060777

G

0.26

1.05 (1.04-1.07)

1.14E-11

0.595

0.999

1.10

4q23

4:99031559

METAP1

EIF4E, ADH5

rs1037475

G

0.57

1.04 (1.03-1.05)

8.38E-09

0.707

1.000

0.95

5q31.1

5:133099880

HSPA4

HSPA4

rs4367292

T

0.27

0.96 (0.94-0.97)

2.49E-08

0.882

0.997

1.15

6q21

6:109054915

SESN1

SESN1

rs11153158

C

0.13

0.93 (0.92–0.95)

1.05E-10

0.243

0.996

1.19

7p14.3

7:33008785

FKBP9, NT5C3A

NT5C3A, BBS9

rs4723230

T

0.80

1.05 (1.03-1.07)

4.68E-08

0.946

0.998

1.03

7q31.31

7:121132432

CPED1

WNT16

rs12706314

A

0.53

1.04 (1.03-1.06)

2.69E-10

0.777

0.998

0.89

7q32.3

7:130935964

LINC-PINT

LINC-PINT

rs35908158

C

0.08

1.08 (1.05-1.10)

1.60E-08

0.883

0.998

1.41

10p12.31

10:21517903

SKIDA1

DNAJC1

rs946711

C

0.33

1.05 (1.03-1.06)

2.96E-10

0.460

0.995

0.96

10q23.31

10:88331783

RNLS

RNLS

rs1426619

T

0.45

1.04 (1.03-1.06)

4.92E-09

0.653

0.998

1.09

11q23.2

11:112703765

ENSG00000285769

ENSG00000285769

rs10891420

C

0.42

1.05 (1.03-1.06)

1.38E-10

0.019

0.995

1.16

20q13.31

20:57441016

CTCFL

RBM38, BMP7

rs13039273

C

0.46

1.04 (1.03-1.06)

3.08E-09

0.874

0.995

1.22

21q22.12

21:35072824

RUNX1

RUNX1

rs2834747

G

0.30

0.96 (0.94-0.97)

1.44E-08

0.711

0.997

1.17

22q12.3

22:36287509

MYH9, APOL1

MYH9

rs9610482

T

0.19

1.06 (1.04-1.08)

7.89E-11

0.354

0.994

0.94

META-2

10q22.3

10:76884502

KCNMA1

KCNMA1

rs2082415

T

0.52f

1.05 (1.03-1.06)

2.80E-08

0.460

0.949

1.11

10q24.32a

10:101726828

FGF8

SLK

rs189195982

T

0.03f

1.26 (1.17-1.36)

2.78E-10

0.285

0.994

198.19

10q24.32a

10:102788270

WBP1L

SLK

rs75731980

T

0.06f

1.23 (1.17-1.30)

2.42E-16

0.801

0.992

46.07

10q25.1a

10:105587387

SORCS3

SLK

rs17119191

T

0.97f

0.76 (0.70-0.82)

5.81E-13

0.314

0.977

49.89

10q25.1a

10:106822067

SORCS1

SLK

rs1336619

T

0.03f

1.25 (1.17-1.34)

3.48E-10

0.127

0.999

7.47

12q15

12:68692314

NUP107

MDM2

rs142808358

T

0.03f

0.87 (0.83-0.91)

5.45E-09

0.958

0.987

0.87

  1. ‘Nearest gene(s)’ reports the gene closest to the association lead variant.
  2. ‘Candidate gene(s)’ indicates the biologically most relevant gene within a 1  Mb window around the association lead variant.
  3. Chr chromosome, Pos position (build 38), EA effect allele, EAF effect allele frequency, OR odds ratio, CI confidence interval, P p value, HetPVal p value for heterogeneity, INFOFinnGen imputation info in FinnGen, FIN enr Finnish enrichment (calculated as FIN AF/NFEE AF in the Genome Aggregation Database (gnomAD), where FIN AF is the Finnish allele frequency and NFEE AF is the non-Finnish-non-Estonian European allele frequency).
  4. aThe locus spans a genomic region larger than ±1 Mb.
  5. fFinnGen-based effect allele frequency (allele frequencies were not available for the genome-wide summary statistics of the previous study12).
  6. The table reports distinct loci (more than 1 Mb apart) that contain at least one variant identified to be associated with UL at p < 5 × 10−8 and that have not been reported in association with UL in prior studies. META-1 is a meta-analysis of 53,534 UL cases and 373,024 female controls from FinnGen limited to the top 10,000 variants of a previously published meta-GWAS of UL12, and META-2 is a meta-analysis of 38,466 UL cases and 329,473 female controls from FinnGen and the genome-wide results of the same meta-GWAS12 excluding 23andMe data. All significant loci are listed in Tables S1, S2.