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首页> 外文期刊>American journal of medical genetics, Part A >A population-based case-control study of isolated primary congenital glaucoma.
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A population-based case-control study of isolated primary congenital glaucoma.

机译：基于人群的原发性先天性青光眼病例对照研究。

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摘要

We studied the possible etiological factors of isolated primary congenital glaucoma (IPCG) using data from the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002. The study group consisted of 52 cases with IPCG compared to 52 matched control pairs without any defects, and 22,744 malformed controls with non-ocular defects and 37,837 population controls with no defect. Exposure data and family history were collected (i) prospectively by prenatal logbook and other medical records, (ii) retrospectively through a structured questionnaire completed by mothers, and (iii) from supplementary information obtained by regional nurses visiting the homes of non-respondent mothers. Autosomal recessive inheritance of IPCG was suspected on the basis of sib occurrence and parental consanguinity in 15% of cases. The shorter gestational age (with high proportion of preterm birth), higher birth order, large proportion of births among unmarried women, low socioeconomic status, and high rate of unemployment may be related to Gypsy origin of at least 54% of cases of IPCG. We conclude that the higher incidence of IPCG in the Hungarian Gypsy population is associated with their inbreeding and the possible founder effect of a gene mutation.
机译：我们使用了匈牙利先天性异常病例对照监测（1980-2002年）的数据来研究原发性先天性青光眼（IPCG）的可能病因。该研究组由52例IPCG患者与52对匹配的对照组组成，无任何缺陷，以及22,744例非眼缺陷的畸形对照和37,837例无缺陷的人群对照。收集暴露数据和家族史（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研究;以及（iii）从区域护士访问未答复母亲的家中获得的补充信息。在15％的病例中，基于同胞发生和父母血缘关系，怀疑IPCG为常染色体隐性遗传。较短的胎龄（早产比例较高），较高的出生顺序，未婚妇女出生比例较高，社会经济地位较低和失业率较高可能与至少54％的IPCG病例的吉普赛人起源有关。我们得出的结论是，匈牙利吉普赛人人群中IPCG的较高发生率与其近亲繁殖和基因突变的可能创始人效应有关。

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