Our strongest associations were at chromosome 4q13 (rs17088254, P = 8.5 × 10−6) between CENPC1, a centromere autoantigen, and EPHA5, an ephrin receptor potentially involved in neurodevelopment; at 5p15 (rs10513025, P = 1.7 × 10−6) in the EST DB512398, located between SEMA5A and TAS2R1; at 6p23 (rs7766973, P = 6.8 × 10−7) in JARID2, an ortholog of the mouse jumonji gene, encoding a nuclear protein essential for embryogenesis, especially neural tube formation; at 9p24 (rs4742409, P = 7.9 × 10−6) between PTPRD, a protein tyrosine phosphatase involved in neurite outgrowth, and JMJD2C, a jumonji-domain containing protein involved in tri-methyl specific demethylation; at 9q21 (rs952834, P = 7.8 × 10−6) between ZCCHC6, a zinc finger and CCHC domain containing protein, and GAS1, growth arrest specific protein; at 10q21 (rs7923367, P = 3.4 × 10−6) in CTNNA3, alpha 3 catenin, which may be involved in the formation of stretch-resistant cell-cell adhesion complexes; and two SNPs on 11p14 (rs12293188, P = 1.1 × 10−6; rs16910194, P = 3.7 × 10−6) in GAS2, a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis and can modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity (Table 1).
