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. Author manuscript; available in PMC: 2021 Mar 1.
Published in final edited form as: Cancer Res. 2020 Jun 17;80(17):3755–3764. doi: 10.1158/0008-5472.CAN-20-0093

Table 2 |.

Genome-wide significant loci on chromosome 7q21.3 for sperm concentration and their results in independent replication samples

Discovery sample (n=167) Primary replication sample (n=34) Secondary replication sample (n=24)

SNP BP MA/OA MAF Crude mean sperm concentration (OO/OM/MM) Change in sperm concentration, million/mL (95% CI) P MAF Change in sperm concentration, million/mL (95% CI) P MAF Change in sperm concentration, million/mL (95% CI) P
rs2237572 92630946 C/T 0.21 21.93/51.28/86.71 38.45 (25.44,51.46) 4.2×10−8 0.16 −73.51 (−183.60,36.58) 0.22 0.26 −0.22 (−13.31,12.86) 0.974
rs10225965 92644264 T/C 0.20 21.52/53.22/86.71 39.14 (26.25,52.03) 1.9×10−8 0.16 −73.51 (−183.60,36.58) 0.22 0.24 0.80 (−13.11,14.70) 0.912
rs7784118 97627780 A/G 0.28 52.26/17.99/6.00 −37.30 (−49.83,−24.77) 3.5×10−8 0.34 −73.27 (−99.97,−46.58) 3.1×10−4 0.36 −14.88 (−25.11,−4.64) 0.012

Chr, chromosome; Genomic positions are shown relative to GRCh38 (hg38); MA, minor allele; OA, other (major) allele; MAF, minor allele frequency; OO, survivors homozygous for other allele; OM, survivors with heterozygote genotypes; MM, survivors homozygous for the minor allele; CI, confidence interval