CAJ | 학술논문

目的：评估已发现精神分裂症易感变异对精神分裂症遗传度的解释程度。方法查询美国国家人类基因组研究所（National Human Genome Research Institute，NHGRI）编制的全基因组关联研究（genome-wide as-sociation study，GWAS）目录，检索所有已发现的精神分裂症易感变异位点共347个，纳入其中已提供风险等位基因频率和比值比的62个位点，使用多因素易患性阈值模型计算每个易感变异对精神分裂症遗传度的解释度。结果已知的62个精神分裂症易感变异对精神分裂症遗传度的合计解释度为25.66%，尚有74.34%的遗传度无法被已知易感变异解释，属于遗传度缺失。结论已知精神分裂症易感变异对精神分裂症遗传度的解释度依然较低，表明精神分裂症尚存在许多未知的分子遗传学机制，有待进一步阐明。
목적：평고이발현정신분렬증역감변이대정신분렬증유전도적해석정도。방법사순미국국가인류기인조연구소（National Human Genome Research Institute，NHGRI）편제적전기인조관련연구（genome-wide as-sociation study，GWAS）목록，검색소유이발현적정신분렬증역감변이위점공347개，납입기중이제공풍험등위기인빈솔화비치비적62개위점，사용다인소역환성역치모형계산매개역감변이대정신분렬증유전도적해석도。결과이지적62개정신분렬증역감변이대정신분렬증유전도적합계해석도위25.66%，상유74.34%적유전도무법피이지역감변이해석，속우유전도결실。결론이지정신분렬증역감변이대정신분렬증유전도적해석도의연교저，표명정신분렬증상존재허다미지적분자유전학궤제，유대진일보천명。
Objective To evaluate the heritability explanation degree of schizophrenia by all known susceptibility variants in schizophrenia. Methods The GWAS catalog of National Human Genome Research Institute (NHGRI) was queried to retrieve all the susceptible gene variations of schizophrenia. Sixty-two variants with risk allele frequency and odds ratio (OR ) were selected from 347 susceptible gene variants of schizophrenia. The heritability explanation degree of each susceptibility variants was calculated using the multifactorial liability threshold model. Results The total heritabili-ty explanation degree of schizophrenia by 62 known susceptible variants was 25.66%. In contrast, 74.34%of heritability, which could not be explained by known susceptibility variants, were then defined as the missing heritability of schizophre-nia. Conclusions The results demonstrate that the heritability explanation degree of schizophrenia by all known suscepti-bility variants in schizophrenia is low, indicating that there may be many unknown schizophrenia molecular genetic mech-anisms need to be further clarified.