Data from: The SETDB2 locus: evidence for a genetic link between handedness and atopic disease

The gene SETDB2, which mediates aspects of laterality in animal model systems, has recently been linked with human handedness as measured continuously on a scale from strong left to strong right. By contrast, it was marginally associated with a left-right dichotomous measure, and it showed no evidence of association with absolute handedness strength independent of direction. We genotyped the SETDB2 handedness-associated single nucleotide polymorphism, rs4942830, in a large healthy population likewise phenotyped for continuous, absolute, and dichotomous handedness variables. Our results replicated the previously described pattern of association, with significant effects on continuous handedness, and weaker, marginal effects on dichotomous handedness, but no effects on absolute handedness. These results help to establish the locus marked by the SNP rs4942830 as a strong candidate for mediating human handedness. Intriguingly, rs4942830 is also in complete linkage
disequilibrium with rs386770867, a polymorphism recently shown to affect human serum levels of IgE production and other atopic phenotypes, which implicates this locus in the longstanding links of handedness with asthma and other atopic diseases.

在动物模型系统中参与介导左右侧向发育过程的SETDB2基因（SETDB2），近日被证实与人类利手性存在关联——该性状可通过从强左利到强右利的连续量表进行量化评估。与之形成对照的是，该基因与二分法利手测量指标仅存在边际显著的微弱关联，且未发现其与与方向无关的绝对利手强度存在关联的证据。
我们在一个同样采集了连续型、绝对型及二分法利手性表型数据的大型健康人群队列中，对与利手性相关的SETDB2基因单核苷酸多态性（single nucleotide polymorphism）rs4942830进行了基因分型。
本研究结果重复了此前报道的关联模式：对连续型利手性具有显著影响，对二分法利手性仅存在较弱的边际关联，而对与方向无关的绝对利手强度无任何影响。上述结果进一步确立了rs4942830所标记的基因座作为介导人类利手性的强力候选位点。
值得注意的是，rs4942830与rs386770867存在完全连锁不平衡（linkage disequilibrium）；后者是一种新近被证实可影响人类血清IgE生成水平及其他特应性表型的多态性，这一关联将该基因座与利手性与哮喘及其他特应性疾病之间长期存在的已知关联联系起来。