Saggers-Gray L, Heriani H, Handoko H Y, Irmansyah I, Kusumawardhani A A A A, Widyawati I, Amir N, Nasrun M W S, Schwab S G, Wildenauer D B
Western Australian Institute for Medical Research, Centre for Medical Research, University of Western Australia, Perth, Western Australia, Australia.
Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 5;147B(7):1310-3. doi: 10.1002/ajmg.b.30736.
PIP5K2A variants have been shown to be associated with schizophrenia in Caucasian populations. This study tested 12 PIP5K2A SNPs for association with schizophrenia in a sample of 152 sib-pair families of Indonesian descent. All SNPs had previously been tested for association with schizophrenia in a German family sample by Schwab et al. [2006; Mol Psychiatry] and seven SNPs were nominally associated with schizophrenia in this previous study. The purpose of the study was to examine whether previously implicated PIP5K2A variants influence susceptibility to schizophrenia in populations of non-European descent. No single markers showed nominal association with schizophrenia in this Indonesian family sample, however multi-marker haplotypes including a previously associated exonic SNP marker revealed nominally significant association (P = 0.03). Power to detect association was greater than 80% for all previously implicated variants except for rs11013052, where power was greatly reduced due to the low minor allele frequency of this marker in the Indonesian sample. An explorative study combining the results of this study with those of our previous study indicated that rs11013052 was significantly associated with schizophrenia in the combined sample (P = 0.002). The results of this study suggest that any contribution of previously implicated DNA variants within the PIP5K2A gene to schizophrenia susceptibility in the Indonesian population is only minor.
在高加索人群中，PIP5K2A基因变异已被证明与精神分裂症有关。本研究在152个印尼裔同胞对家庭样本中，检测了12个PIP5K2A单核苷酸多态性（SNP）与精神分裂症的关联性。所有SNP此前都由施瓦布等人[2006年；《分子精神病学》]在一个德国家庭样本中检测过与精神分裂症的关联性，并且在之前的这项研究中有7个SNP与精神分裂症存在名义上的关联。该研究的目的是检验先前涉及的PIP5K2A基因变异是否会影响非欧洲裔人群对精神分裂症的易感性。在这个印尼家庭样本中，没有单个标记显示出与精神分裂症存在名义上的关联，然而，包括一个先前相关的外显子SNP标记在内的多标记单倍型显示出名义上的显著关联（P = 0.03）。除rs11013052外，对于所有先前涉及的变异，检测关联的效能均大于80%，由于该标记在印尼样本中的次要等位基因频率较低，rs11013052的效能大幅降低。一项将本研究结果与我们先前研究结果相结合的探索性研究表明，在合并样本中rs11013052与精神分裂症显著相关（P = 0.002）。本研究结果表明，PIP5K2A基因内先前涉及的DNA变异对印尼人群精神分裂症易感性的任何影响都很小。
