Erickson J D, Bjerkedal T O
J Med Genet. 1981 Feb;18(1):22-8. doi: 10.1136/jmg.18.1.22.
Records of births in Norway in 1967 to 1978 were examined for evidence of an increased risk of Down syndrome associated with older paternal age. From among some 685 000 total births with known maternal and paternal age, 693 cases of Down syndrome were reported to the Medical Birth Registry of Norway. The effect of paternal age was assessed by classifying fathers as young and old on the basis of several definitions. The effect of maternal age was removed by stratifying the data on single years of mothers' age. When fathers were considered young if they were less than or equal to 49 and old if they were less than or equal to 50, the analysis yielded a statistic for the test of a one-sided hypothesis which was significant at the 0.05 level. There appears to be an increase risk (perhaps 20 to 30%) of Down syndrome associated with older fathers, independent of maternal age effect. If this increase does in fact exist, it is much smaller than the increases in risk associated with advancing maternal age, and because older men contribute a relatively small proportion of total births their contribution to the communal burden of Down syndrome is quite small. However, the finding is of aetiological interest and is the first indication of a significant paternal age effect where control for maternal age has been stringent.
对挪威1967年至1978年的出生记录进行了检查,以寻找与父亲年龄较大相关的唐氏综合征风险增加的证据。在约68.5万例已知母亲和父亲年龄的总出生数中,有693例唐氏综合征病例报告给了挪威医疗出生登记处。通过根据几种定义将父亲分为年轻和年长,评估了父亲年龄的影响。通过按母亲年龄的单一年份对数据进行分层,消除了母亲年龄的影响。当父亲年龄小于或等于49岁被视为年轻,小于或等于50岁被视为年长时,分析得出了一个单侧假设检验的统计量,该统计量在0.05水平上具有显著性。与年长父亲相关的唐氏综合征风险似乎有所增加(可能为20%至30%),且与母亲年龄的影响无关。如果这种增加确实存在,它比与母亲年龄增长相关的风险增加要小得多,并且由于年长男性在总出生数中所占比例相对较小,他们对唐氏综合征公共负担的贡献相当小。然而,这一发现具有病因学意义,并且是在对母亲年龄进行严格控制的情况下,首次表明父亲年龄存在显著影响的迹象。