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一项基于丹麦登记系统、针对不同原产国母亲所生幼儿中常染色体隐性遗传病的研究。

A Register-Based Study of Diseases With an Autosomal Recessive Origin in Small Children in Denmark According to Maternal Country of Origin.

作者信息

Gundlund Anna, Hansen Anne Vinkel, Pedersen Grete Skøtt, Villadsen Sarah Fredsted, Mortensen Laust Hvas, Brøndum-Nielsen Karen, Andersen Anne-Marie Nybo

机构信息

Department of Public Health, University of Copenhagen, Copenhagen, Denmark.

The Kennedy Center, Rigshospitalet, University of Copenhagen, Glostrup, Denmark.

出版信息

Paediatr Perinat Epidemiol. 2015 Jul;29(4):351-9. doi: 10.1111/ppe.12195. Epub 2015 May 13.

DOI:10.1111/ppe.12195
PMID:25970349
Abstract

BACKGROUND

Compared with children born of Danish mothers, the mortality of children, born and living in Denmark, is significantly increased in those with a mother from Afghanistan, Iraq, Pakistan, Somalia, and Turkey. Consanguinity has been suggested to account for part of this disparity. Since information on consanguinity is lacking, this suggestion is difficult to test. With an indirect approach, we addressed this question by comparing the risk of diseases with autosomal recessive inheritance in children born in Denmark of Danish-born women and of women born in these five countries, respectively.

METHODS

All children born in Denmark (1994-2010) were followed until 5 years of age or end-of-study period for the risk of hospitalisation with diseases of autosomal recessive aetiology, and therefore considered consanguinity-related. Diagnoses of autosomal recessive diseases were identified using two different methods: a literature review of consanguinity-associated diseases and a search in the Online Catalogue of Human Genes and Genetic Disorders. Risks were also calculated for diseases with known non-autosomal recessive aetiology (considered non-consanguinity-related). We estimated adjusted hazard ratios for the diseases in children of foreign-born women compared with children of Danish-born women.

RESULTS

Compared with offspring of Danish-born women, the risk of a consanguinity-related disease was significantly increased in children of foreign-born women, although the absolute risk was low. The risk of non-consanguinity-related diseases did not differ between the groups compared.

CONCLUSIONS

The findings support the hypothesis that consanguinity accounts for some, however a minor part, of the disparity in child mortality among migrants in Denmark.

摘要

背景

与丹麦母亲所生的孩子相比,在丹麦出生并生活的孩子中,母亲来自阿富汗、伊拉克、巴基斯坦、索马里和土耳其的孩子死亡率显著升高。有人认为近亲结婚是造成这种差异的部分原因。由于缺乏近亲结婚的相关信息,这一观点难以验证。我们采用间接方法,通过比较丹麦出生的女性和这五个国家出生的女性在丹麦所生孩子中患常染色体隐性遗传病的风险,来探讨这个问题。

方法

对所有在丹麦出生(1994 - 2010年)的儿童进行随访,直至其5岁或研究结束,观察其因常染色体隐性病因疾病住院的风险,因此将其视为与近亲结婚相关。常染色体隐性疾病的诊断采用两种不同方法:对与近亲结婚相关疾病的文献综述以及在人类基因和遗传疾病在线目录中进行搜索。还计算了已知非常染色体隐性病因疾病(视为与非近亲结婚相关)的风险。我们估计了外国出生女性的孩子与丹麦出生女性的孩子患这些疾病的调整后风险比。

结果

与丹麦出生女性的后代相比,外国出生女性的孩子患与近亲结婚相关疾病的风险显著增加,尽管绝对风险较低。两组之间与非近亲结婚相关疾病的风险没有差异。

结论

研究结果支持以下假设,即近亲结婚是丹麦移民儿童死亡率差异的部分原因,不过占比很小。

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