Table 1 Genome-wide significant signals identified for ages at menarche and menopause in the BioBank Japan Project
From: Elucidating the genetic architecture of reproductive ageing in the Japanese population
Location | SNP (r2)a | Allelesb | Nearest Gene | Japanese (BBJ) | European samples | Het. P | ||
|---|---|---|---|---|---|---|---|---|
Effect (S.E) | P | Effect (S.E) | P | |||||
Novel signals at novel loci | ||||||||
Menopause | ||||||||
3q21.3 | rs4853 | T/C/0.94/0.90 | H1FX | 0.48 (0.05) | 2E−18 | 0.03 (0.05) | 5E−01 | 2E−09 |
4p11 | rs10049761 | T/G/0.36/0.50 | ZAR1 | 0.22 (0.03) | 2E−15 | 0.08 (0.03) | 4E−03 | 1E−03 |
4q23 | rs199646819 | A/ATGG/0.61/0.02 | EIF4E | 0.15 (0.03) | 3E−08 | 0.19 (0.11) | 7E−02 | 7E−01 |
8p21.2 | rs6185 | G/C/0.51/0.25 | GNRH1 | 0.19 (0.03) | 3E−13 | 0.04 (0.04) | 3E−01 | 7E−04 |
8q24.11 | rs2921759 | T/C/0.82/0.98 | RAD21 | 0.19 (0.03) | 2E−08 | −0.11 (0.12) | 4E−01 | 1E−02 |
10q24.1 | rs1889921 | T/G/0.53/0.53 | CCNJ | 0.24 (0.03) | 2E−20 | 0.11 (0.03) | 1E−04 | 7E−04 |
14q24.2 | rs8010674 | C/T/0.63/0.62 | DCAF4 | 0.15 (0.03) | 3E−08 | 0.07 (0.03) | 3E−02 | 5E−02 |
18q21.33 | rs200296776 | C/T/0.99/0.999 | ZCCHC2 | 1.15 (0.20) | 9E−09 | −0.63 (1.69) | 6E−01 | 3E−01 |
Menarche | ||||||||
14q13.3 | rs2076751 | C/A/0.75/0.93 | NKX2-1 | 0.07 (0.01) | 1E−11 | 0.07 (0.02) | 3E−05 | 9E−01 |
18p11.32 | rs77001758 | A/G/0.40/0.001 | THOC1 | 0.05 (0.01) | 5E−09 | 0.32 (0.15) | 4E−02 | 8E−02 |
Novel signals at known loci | ||||||||
Menopause | ||||||||
20p12.3 | rs76498344 (0.03) | C/T/0.23/0.05 | MCM8 | 0.22 (0.03) | 4E−12 | 0.01 (0.07) | 8E−01 | 7E−03 |
Menarche | ||||||||
9p23 | rs291269 (0) | G/A/0.37/0.32 | PTPRD | 0.05 (0.01) | 2E−08 | 0.01 (0.01) | 3E−01 | 9E−04 |
Genome-wide significant signals correlated with known European signals | ||||||||
Menopause | ||||||||
4q21.23 | rs7665103 (0.97) | G/A/0.62/0.41 | HELQ | 0.15 (0.03) | 4E−08 | 0.25 (0.03) | 5E−17 | 1E−02 |
5q35.2 | rs34933909 (0.91) | T/G/0.49/0.45 | UIMC1 | 0.20 (0.03) | 9E−14 | 0.32 (0.03) | 2E−26 | 4E−03 |
6p24.2 | rs12211124 (0.22) | T/C/0.69/0.64 | SYCP2L/MAK | 0.20 (0.03) | 2E−12 | 0.16 (0.03) | 1E−07 | 4E−01 |
6p21.33 | rs28474889 (0.41) | C/T/0.73/0.80 | MSH5/HLA | 0.24 (0.03) | 5E−16 | 0.16 (0.04) | 4E−06 | 1E−01 |
8p12 | rs28807105 (0.30) | G/A/0.30/0.22 | EIF4EBP1 | 0.16 (0.03) | 2E−08 | 0.43 (0.04) | 6E−32 | 6E−09 |
12q13.3 | rs2277339 (1) | T/G/0.80/0.89 | PRIM1/TAC3 | 0.29 (0.03) | 7E−20 | 0.33 (0.05) | 1E−11 | 5E−01 |
17q21.31 | rs8176071 (0.98) | GTGT/G/0.34/0.33 | BRCA1 | 0.16 (0.03) | 1E−08 | 0.15 (0.03) | 3E−06 | 8E−01 |
Menarche | ||||||||
1q23.3 | rs78408536 (0.60) | CT/C/0.72/0.86 | RXRG | 0.05 (0.01) | 5E−08 | 0.07 (0.01) | 6E−09 | 4E−01 |
2q33.1 | rs35020808 (0.88) | GT/G/0.50/0.68 | SATB2 | 0.06 (0.01) | 5E−11 | 0.05 (0.01) | 7E−07 | 2E−01 |
6q16.3 | rs11285463 (1) | AT/A/0.29/0.45 | LIN28B | 0.08 (0.01) | 3E−16 | 0.11 (0.01) | 5E−42 | 2E−02 |
8q21.11 | rs7821604 (1) | C/G/0.51/0.85 | ZFHX4 | 0.05 (0.01) | 2E−08 | 0.03 (0.01) | 7E−03 | 2E−01 |
9q31.2 | rs1516883 (0.91) | G/A/0.53/0.69 | TMEM38B | 0.06 (0.01) | 4E−12 | 0.12 (0.01) | 5E−39 | 2E−05 |
11q24.1 | rs144048300 (0.26) | T/A/0.16/0.10 | C11orf63 | 0.07 (0.01) | 1E−08 | 0.05 (0.01) | 2E−04 | 4E−01 |
14q32.2 | rs142252570 (1) | CTAAT/C/0.82/0.95 | – | 0.07 (0.01) | 2E−09 | 0.09 (0.02) | 1E−06 | 3E−01 |
