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.

在动物模型系统中调控偏侧性相关进程的SETDB2基因，近期被发现与人类利手性存在关联——该利手性通过从强左利到强右利的连续量表进行评估。与之形成对比的是，该基因与二分法左右利分类测量指标仅呈现边缘显著性关联，且未发现其与不考虑利手方向的绝对利手强度存在关联的证据。
我们在一个规模庞大的健康人群中，对与利手性相关的SETDB2基因单核苷酸多态性（single nucleotide polymorphism, SNP）rs4942830完成了基因分型；该人群同样接受了连续型、绝对型及二分法利手性变量的表型评估。
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缘显著性关联，而对绝对型利手性则无任何影响。上述结果证实，由SNP rs4942830标记的基因位点可作为调控人类利手性的强有力候选位点。
值得注意的是，rs4942830与rs386770867存在完全连锁不平衡（linkage disequilibrium）；后者是一种近期被发现可影响人类血清IgE生成水平及其他特应性表型的多态性位点，这一发现将该基因位点与此前已被证实的利手性与哮喘及其他特应性疾病之间的关联联系了起来。