局部的祖先混合变异可确定拉丁裔儿童中毛细胞星形细胞瘤的风险位点。
Localized variation in ancestral admixture identifies pilocytic astrocytoma risk loci among Latino children.
机构信息
Center for Genetic Epidemiology, Department of Population and Public Health Sciences, University of Southern California, Los Angeles, California, United States of America.
Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, California, United States of America.
出版信息
PLoS Genet. 2022 Sep 7;18(9):e1010388. doi: 10.1371/journal.pgen.1010388. eCollection 2022 Sep.
BACKGROUND
Pilocytic astrocytoma (PA) is the most common pediatric brain tumor. PA has at least a 50% higher incidence in populations of European ancestry compared to other ancestral groups, which may be due in part to genetic differences.
METHODS
We first compared the global proportions of European, African, and Amerindian ancestries in 301 PA cases and 1185 controls of self-identified Latino ethnicity from the California Biobank. We then conducted admixture mapping analysis to assess PA risk with local ancestry.
RESULTS
We found PA cases had a significantly higher proportion of global European ancestry than controls (case median = 0.55, control median = 0.51, P value = 3.5x10-3). Admixture mapping identified 13 SNPs in the 6q14.3 region (SNX14) contributing to risk, as well as three other peaks approaching significance on chromosomes 7, 10 and 13. Downstream fine mapping in these regions revealed several SNPs potentially contributing to childhood PA risk.
CONCLUSIONS
There is a significant difference in genomic ancestry associated with Latino PA risk and several genomic loci potentially mediating this risk.
背景
毛细胞星形细胞瘤（PA）是最常见的儿童脑肿瘤。与其他祖先群体相比，欧洲血统人群中 PA 的发病率至少高出 50%，这可能部分归因于遗传差异。
方法
我们首先比较了来自加利福尼亚生物库的 301 例 PA 病例和 1185 例自我认定为拉丁裔的对照人群中全球欧洲、非洲和美洲原住民血统的比例。然后，我们进行了混合映射分析，以评估局部祖源与 PA 风险的关系。
结果
我们发现 PA 病例的全球欧洲血统比例明显高于对照组（病例中位数=0.55，对照中位数=0.51，P 值=3.5x10-3）。混合映射确定了 6q14.3 区域（SNX14）中的 13 个 SNP 与风险相关，此外，在染色体 7、10 和 13 上还有另外三个接近显著的峰。在这些区域的下游精细映射揭示了几个可能导致儿童 PA 风险的 SNP。
结论
拉丁裔 PA 风险与基因组祖源存在显著差异，有几个基因组位点可能介导这种风险。
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