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Table 1 SNPs included in the pubertal development genetic risk score in the ProtecT study

From: Pubertal development and prostate cancer risk: Mendelian randomization study in a population-based cohort

SNP Nearest gene (distance) Chr Positiona Tanner stage decreasing/other allele Tanner stage decreasing allele frequency (ProtecT controls)b Tanner stage decreasing allele frequency (CEU) Hardy–Weinberg equilibrium P value Gene function
rs2274465 KDM4A 1 44121557 C/G 0.664 0.676 0.9 Histone demethylation
rs6427782 NR5A2 (+198 kb) 1 199798339 A/G 0.510 0.556 0.005 DNA binding/steroid hormone receptor activity
rs6762477 RBM6 3 50093209 A/G 0.547 0.551 0.6 Regulation of alternative splicing
rs2153127 LIN28B (+36 kb) 6 105348544 T/C 0.530 0.515 0.8 Cell reprogramming
rs7759938 LIN28B (+6 kb) 6 105378954 C/T 0.318 0.373 1.0 Cell reprogramming
rs7821178 PEX2 (–181 kb) 8 78093837 C/A 0.665 0.658 0.1 Peroxisome biogenesis
rs10453225 TMEM38B (–381 kb) 9 108920220 G/T 0.681 0.700 0.2 Maintenance of intracellular calcium release
rs2090409 TMEM38B (–428 kb) 9 108967088 C/A 0.680 0.688 0.3 Maintenance of intracellular calcium release
rs10739221 TMEM38B (–522 kb) 9 109060830 C/T 0.772 0.770 0.5 Maintenance of intracellular calcium release
rs1324913 KLF12 13 74635588 T/G 0.338 0.312 0.6 Transcription factor/gene expression regulation
rs12915845 DET1 15 89042467 C/T 0.587 0.582 0.1 Development regulation
rs246185 MKL2 (–35 kb) 16 14395432 C/T 0.313 0.300 0.6 Regulation of immediate early genes/muscle genes
rs12446632 GPRC5B (–38 kb) 16 19935389 A/G 0.146 0.127 0.8 Modulation of insulin secretion
  1. aPosition based on GRCh37.p13 assembly
  2. b n = 1,791