Vogt Gábor, Puhó Erzsébet, Czeizel Andrew E
Hospital and Central Outpatients Clinics of the Hungarian State Railways, Budapest, Hungary.
Eur J Epidemiol. 2005;20(11):939-46. doi: 10.1007/s10654-005-2382-z.
The purpose of the study was to reveal the etiological factors in the origin of isolated an/microphthalmia. The dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002 containing 56 cases with isolated an/microphthalmia and 22,744 malformed controls with other non-ocular defects from the Hungarian Congenital Abnormality Registry, in addition of 56 matched control pairs and 37,837 population controls without defects from the National Birth Registry, was evaluated. Exposure data and family history were collected (i) prospectively by prenatal logbook and other medical records, (ii) retrospectively through a structured questionnaire filled-in by mothers, and (iii) information obtained by regional nurses at home visit of non-respondent mothers. The autosomal recessive origin of isolated an/microphthalmia was indicated in about 10% of cases on the basis of sib recurrence. Cases with isolated an/microphthalmia had a much shorter mean gestational age and smaller mean birth weight, a much larger proportion of preterm birth and low birthweight. Their mothers were younger with a predominance of first birth order, frequently unmarried with low socioeconomic status. These findings are in agreement with a much higher prevalence at birth of cases with isolated an/microphthalmia in the gypsy population probably due to the interaction of inbreeding effect and low socioeconomic status. Further molecular genetic studies are needed to identify gene mutations of isolated an/microphthalmia in the Hungarian gypsy population.
本研究的目的是揭示孤立性无眼/小眼畸形发病的病因。对匈牙利先天性异常病例对照监测数据集进行了评估，该数据集包含1980 - 2002年匈牙利先天性异常登记处的56例孤立性无眼/小眼畸形病例和22744例患有其他非眼部缺陷的畸形对照，此外还有56对匹配对照以及国家出生登记处的37837名无缺陷的人群对照。暴露数据和家族史的收集方式如下：(i) 通过产前日志和其他医疗记录进行前瞻性收集；(ii) 通过母亲填写的结构化问卷进行回顾性收集；(iii) 由地区护士在未回应母亲的家访中获取信息。根据同胞复发情况，约10%的病例显示孤立性无眼/小眼畸形起源于常染色体隐性遗传。孤立性无眼/小眼畸形病例的平均孕周短得多，平均出生体重小得多，早产和低出生体重的比例要大得多。他们的母亲更年轻，初产占主导，经常未婚且社会经济地位较低。这些发现与吉普赛人群中孤立性无眼/小眼畸形病例出生时的患病率高得多相一致，这可能是由于近亲繁殖效应和低社会经济地位的相互作用。需要进一步的分子遗传学研究来确定匈牙利吉普赛人群中孤立性无眼/小眼畸形的基因突变。
