Olshan A F, Schnitzer P G, Baird P A
Department of Epidemiology, School of Public Health, University of North Carolina, Chapel Hill 27599.
Teratology. 1994 Jul;50(1):80-4. doi: 10.1002/tera.1420500111.
The effect of paternal age on the risk of birth defects among offspring is less well studied than the effect of maternal age, with few comprehensive epidemiologic studies having been conducted. Advanced paternal age has been shown to be associated with an increase in new dominant mutations that result in particular congenital anomalies. The relationship between paternal age and more common birth defects, for example, cardiac defects, has not been as extensively evaluated. Therefore, a total of 4,110 cases of congenital heart defects was identified from the British Columbia Health Surveillance Registry. Matched controls were obtained from the birth files of British Columbia for the years 1952-1973. Prevalence odds ratios for paternal age, adjusted for maternal age and other factors, were estimated for 8 cardiac defect groups. A suggestive general pattern of increasing risk with increasing age among cases (excluding chromosomal anomalies) relative to controls was found for ventricular septal defects (VSD), atrial septal defects (ASD), and patent ductus arteriosus (PDA). In addition, an increased risk among men younger than 20 yr was found for VSD and ASD. These findings are consistent with the results of some previous epidemiologic studies. Based on the results of this study it is estimated that for cardiac defects such as VSD, approximately 5% of cases may be due to advanced paternal age (> 35 yr), possibly through dominant mutations.
与母亲年龄对后代出生缺陷风险的影响相比,父亲年龄对后代出生缺陷风险的影响研究较少,进行的全面流行病学研究也很少。已表明父亲年龄较大与导致特定先天性异常的新显性突变增加有关。父亲年龄与更常见的出生缺陷(例如心脏缺陷)之间的关系尚未得到广泛评估。因此,从不列颠哥伦比亚省健康监测登记处确定了总共4110例先天性心脏缺陷病例。匹配的对照取自1952年至1973年不列颠哥伦比亚省的出生档案。针对8个心脏缺陷组,估计了经母亲年龄和其他因素调整后的父亲年龄的患病率比值比。对于室间隔缺损(VSD)、房间隔缺损(ASD)和动脉导管未闭(PDA),在病例(不包括染色体异常)中发现了一种随着年龄增长风险相对于对照增加的提示性总体模式。此外,在20岁以下的男性中,VSD和ASD的风险增加。这些发现与一些先前的流行病学研究结果一致。根据这项研究的结果,估计对于诸如VSD之类的心脏缺陷,大约5%的病例可能归因于父亲年龄较大(>35岁),可能是通过显性突变。