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Abstract：
Psychiatric disorders are highly inheritable, and most psychiatric disorders exhibit genetic overlap. Recent studies associated the 3q29 recurrent deletion with schizophrenia (SCZ) and autism spectrum disorder (ASD). In this study, we investigated the association of genes in the 3q29 region with SCZ and ASD. TM4SF19 and PAK2 were chosen as candidate genes for this study based on evidence from previous research. We sequenced TM4SF19 and PAK2 in 437 SCZ cases, 187 ASD cases and 524 controls in the Japanese population. Through targeted sequencing, we identified 6 missense variants among the cases (ASD & SCZ), 3 missense variants among controls, and 1 variant common to both cases and controls; however, no loss-of-function variants were identified. Fisher\'s exact test showed a significant association of variants in TM4SF19 among cases (p=0.0160). These results suggest TM4SF19 variants affect the etiology of SCZ and ASD in the Japanese population. Further research examining 3q29 region genes and their association with SCZ and ASD is thus needed.
摘要：
精神疾病是高度可遗传的，大多数精神疾病表现出遗传重叠。最近的研究将3q29复发性缺失与精神分裂症（SCZ）和自闭症谱系障碍（ASD）相关联。在这项研究中,我们研究了3q29区域的基因与SCZ和ASD的关联。根据先前研究的证据，选择TM4SF19和PAK2作为本研究的候选基因。我们对437例SCZ病例的TM4SF19和PAK2进行了测序，在日本人口中，有187例ASD病例和524例对照。通过靶向测序,我们在病例中确定了6个错义变体(ASD&SCZ)，控件中的3种错觉变体，和1个变体常见的情况下和控制;然而，未发现功能缺失变异.Fisher精确检验显示TM4SF19中的变异体之间存在显著关联(p=0.0160)。这些结果表明TM4SF19变体会影响日本人群中SCZ和ASD的病因。因此，需要进一步研究3q29区域基因及其与SCZ和ASD的关联。
