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Diabetic retinopathy and other diabetes complications arise more commonly among individuals of African ancestry compared with other ancestry groups. To gain insight into genetic factors influencing the risk of diabetes complications, particularly among individuals of African ancestry, Breeyear et al.

与其他血统群体相比，非洲血统的个体更常出现糖尿病视网膜病变和其他糖尿病并发症。为了深入了解影响糖尿病并发症风险的遗传因素，特别是在非洲血统的个体中，Breeyear等人。

performed multi-ancestry genome-wide association analyses, comprising 68,169 individuals with diabetic retinopathy (cases) and 129,188 individuals with diabetes who did not have diabetic retinopathy (controls). They identified nine loci associated with diabetic retinopathy at genome-wide significance, including a coding variant in G6PD that reached significance both in the combined analysis across all ancestry groups and in the non-Hispanic African subgroup.

进行了多血统全基因组关联分析，包括68169名糖尿病视网膜病变患者（病例）和129188名没有糖尿病视网膜病变的糖尿病患者（对照）。他们在全基因组范围内确定了9个与糖尿病视网膜病变相关的基因座，包括G6PD中的一个编码变异，该变异在所有血统组和非西班牙裔非洲亚组的综合分析中均具有重要意义。

This G6PD variant, which confers glucose-6-phosphate dehydrogenase deficiency, has previously been associated with protection against severe malaria and is present at a higher frequency in populations of African ancestry. In the current study, this G6PD variant was found to be associated with higher plasma glucose levels, which mediate the effect of this variant on increased risk of diabetic retinopathy.

这种G6PD变体会导致葡萄糖-6-磷酸脱氢酶缺乏症，以前与预防严重疟疾有关，并且在非洲血统的人群中出现频率更高。在当前的研究中，发现该G6PD变体与较高的血糖水平相关，这介导了该变体对糖尿病视网膜病变风险增加的影响。

Phenome-wide analyses across two biobanks provided additional evidence that this G6PD variant confers increased risk of other diabetes complications, including diabetic nephropathy. These findings suggest a fitness trade-off at G6PD between protection from severe malaria and risk of other adverse health outcomes.Original reference: Nat.

跨两个生物库的全基因组分析提供了额外的证据，表明这种G6PD变体会增加其他糖尿病并发症（包括糖尿病肾病）的风险。这些发现表明，G6PD在防止严重疟疾和其他不良健康后果风险之间进行了健康权衡。原始参考：Nat。

Med. https://doi.org/10.1038/s41591-024-03089-1 (2024).

和。https://doi.org/10.1038/s41591-024-03089-1(2024).

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Author informationAuthors and AffiliationsNature Genetics https://www.nature.com/ngKyle VoganAuthorsKyle VoganView author publicationsYou can also search for this author in

作者信息作者和附属机构成熟遗传学https://www.nature.com/ngKyleVoganAuthorsKyle VoganView作者出版物您也可以在

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Kyle Vogan.Rights and permissionsReprints and permissionsAbout this articleCite this articleVogan, K. G6PD deficiency and diabetes complications.

凯尔·沃根。权利和许可打印和许可本文引用本文Vogan，K。G6PD缺乏症和糖尿病并发症。

Nat Genet (2024). https://doi.org/10.1038/s41588-024-01881-wDownload citationPublished: 12 August 2024DOI: https://doi.org/10.1038/s41588-024-01881-wShare this articleAnyone you share the following link with will be able to read this content:Get shareable linkSorry, a shareable link is not currently available for this article.Copy to clipboard.

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