Table 2 Pathways used to generate pathway polygenic risk scores

From: GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk

Pathway

Loci in pathway

N SNPs

SNP list

Apoptosis

1;32;64

4

rs201089181;rs7542354;rs12203592;rs7226979

Apoptotic signalling pathway

1;32;64

4

rs201089181;rs7542354;rs12203592;rs7226979

Integrated pancreatic cancer pathway

1;37;64;66

6

rs201089181;rs7542354;rs9692245;rs62433864;rs7226979;rs17265513

Apoptosis modulation and signalling

1;54;64

4

rs201089181;rs7542354;rs417054;rs7226979

HIV-1 Nef: Negative effector of Fas and TNF-alpha

1;64

3

rs201089181;rs7542354;rs7226979

Caspase cascade in apoptosis

1;64;66

4

rs201089181;rs7542354;rs7226979;rs17265513

Prostate cancer—Homo sapiens (human)

12;37;64;71

11

rs534855217;rs191212334;rs577845405;rs534591951;rs13021718;rs9692245;rs62433864;rs7226979;rs4827528;rs113436165;rs7061504

Proteoglycans in cancer—Homo sapiens (human)

19;21;38;57;60

9

rs7349332;rs11684254;rs550618068;rs71530654;rs10225279;rs111931356;17_43947866;rs919462;rs572756998

ESC pluripotency pathways

19;27;37;60

7

rs7349332;rs7680591;rs9692245;rs62433864;17_43947866;rs919462;rs572756998

Pathways in cancer—Homo sapiens (human)

19;27;37;60;64;68;71

12

rs7349332;rs7680591;rs9692245;rs62433864;17_43947866;rs919462;rs572756998;rs7226979;rs68088846;rs4827528;rs113436165;rs7061504

Class B/2 (Secretin family receptors)

19;51;60

5

rs7349332;rs10843003;17_43947866;rs919462;rs572756998

Wnt signalling pathway

19;54;60

5

rs7349332;rs417054;17_43947866;rs919462;rs572756998

Wnt signalling pathway and pluripotency

19;54;60

5

rs7349332;rs417054;17_43947866;rs919462;rs572756998

WNT ligand biogenesis and trafficking

19;60

4

rs7349332;17_43947866;rs919462;rs572756998

Wnt signalling in kidney disease

19;60

4

rs7349332;17_43947866;rs919462;rs572756998

DNA damage response (only ATM dependent)

19;60;64

5

rs7349332;17_43947866;rs919462;rs572756998;rs7226979

Endochondral ossification

2;25;34;51

7

rs16830188;rs11249243;rs9803723;rs2064251;rs11714208;rs70993471;rs10843003

Regulation of nuclear SMAD2/3 signalling

2;34;68;71

9

rs16830188;rs11249243;rs9803723;rs2064251;rs70993471;rs68088846;rs4827528;rs113436165;rs7061504

TGF_beta_Receptor

2;34;68;71

9

rs16830188;rs11249243;rs9803723;rs2064251;rs70993471;rs68088846;rs4827528;rs113436165;rs7061504

Transcriptional misregulation in cancer—Homo sapiens (human)

20;34;37;68

5

rs77177529;rs70993471;rs9692245;rs62433864;rs68088846

Activation of the TFAP2 (AP-2) family of transcription factors

3;67

3

rs16827770;rs551865390;rs985546

White fat cell differentiation

31;32

2

rs1422798;rs12203592

Development of pulmonary dendritic cells and macrophage subsets

32;34

2

rs12203592;rs70993471

Notch-mediated HES/HEY network

34;38;71

6

rs70993471;rs71530654;rs10225279;rs4827528;rs113436165;rs7061504

Regulation of FZD by ubiquitination

42;48

6

rs182973285;rs16877149;rs77767830;rs79593277;rs530010717;rs79811440

Regulation of apoptosis by parathyroid hormone-related protein

51;64

2

rs10843003;rs7226979

Signalling by Wnt

9;19;29;42;48;60

13

rs78448052;rs7349332;rs73837363;rs76067940;rs182973285;rs16877149;rs77767830;rs79593277;rs530010717;rs79811440;17_43947866;rs919462;rs572756998

TCF-dependent signalling in response to WNT

9;29;42;48;60

12

rs78448052;rs73837363;rs76067940;rs182973285;rs16877149;rs77767830;rs79593277;rs530010717;rs79811440;17_43947866;rs919462;rs572756998

  1. The first column represents the name of the pathway, the second the loci which contain genes relative to the pathway (i.e., 1;32;64 means locus 1, locus 32 and locus 64), the third the number of distinct SNPs in the loci, and the fourth the names of the SNPs