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Table 3 CpG sites with a differences in methylation of >5% between males and females in meta-analysis of 4,172 samples

From: Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns

GENE CHR Target ID Meta-analysis P value Meta-analysis Δ beta NCBI description of protein function n studies consistent effect
SLC9A2 2 cg20050113 <2.2e-16 -0.09 Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. 36
DDX43 6 cg08124399 <2.2e-16 -0.07 ATP-dependent RNA helicase in the DEAD-box family. 39
SPESP1 15 cg09886641 <2.2e-16 -0.06 Human alloantigen involved in sperm-egg binding and fusion. 37
FIGNL1 7 cg05072008 <2.2e-16 -0.06 May regulate osteoblast proliferation and differentiation. 36
CRISP2 6 cg04595372 <2.2e-16 -0.06 Also known as Testis-Specific Protein TPX-1. May regulate some ion channels’ activity and thereby regulate calcium fluxes during sperm capacitation. 36
NUPL1 13 cg08532057 <2.2e-16 -0.06 Component of the nuclear pore complex, a complex required for the trafficking across the nuclear membrane. 30
  1. Direction of effect (Δ beta) is for male relative to female methylation beta value, so that negative values indicate lower methylation in males. The number of the 39 studies in the meta-analysis which had individual associations consistent with the direction of effect in the meta analysis are also shown. All listed probes are located within a CpG island.