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俄罗斯原发性开角型青光眼患者中CDKN2B-AS1基因五个多态性位点的等位基因、基因型和单倍型频率数据集。

Dataset of allele, genotype and haplotype frequencies of five polymorphisms CDKN2B-AS1 gene in Russian patients with primary open-angle glaucoma.

作者信息

Eliseeva Natalya, Ponomarenko Irina, Reshetnikov Evgeny, Polonikov Alexey, Batlutskaya Irina, Aristova Inna, Elykova Anna, Rudykh Natalya, Churnosov Mikhail

机构信息

Department of Medical Biological Disciplines, Belgorod State University, 308015 Belgorod, Russia.

Department of Biology, Medical Genetics and Ecology, Kursk State Medical University, 305041 Kursk, Russia.

出版信息

Data Brief. 2020 May 18;31:105722. doi: 10.1016/j.dib.2020.105722. eCollection 2020 Aug.

DOI:10.1016/j.dib.2020.105722
PMID:32509935
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7265048/
Abstract

Data on the allele, genotype and haplotype frequencies of the five single nucleotide polymorphisms (SNPs) such as rs1063192, rs7865618, rs2157719, rs944800 and rs4977756 of the gene in Russian patients with primary open-angle glaucoma (POAG) are provided. These SNPs are found to be associated with the risk of POAG by genome-wide association studies (GWAS). The frequencies of alleles, genotypes and haplotypes of gene were present separately for entire group of patients, females and males, and may be used as reference data of Russian population.

摘要

提供了俄罗斯原发性开角型青光眼(POAG)患者中该基因的五个单核苷酸多态性(SNP),如rs1063192、rs7865618、rs2157719、rs944800和rs4977756的等位基因、基因型和单倍型频率数据。通过全基因组关联研究(GWAS)发现这些SNP与POAG风险相关。该基因的等位基因、基因型和单倍型频率分别按患者全组、女性和男性列出,可作为俄罗斯人群的参考数据。

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本文引用的文献

1
Association of genetic polymorphisms with age at menarche in Russian women.俄罗斯女性初潮年龄与遗传多态性的关联。
Gene. 2019 Feb 20;686:228-236. doi: 10.1016/j.gene.2018.11.042. Epub 2018 Nov 16.
2
Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.全基因组关联研究鉴定出原发性开角型青光眼的 7 个新的易感位点。
Hum Mol Genet. 2018 Apr 15;27(8):1486-1496. doi: 10.1093/hmg/ddy053.
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Genes of tumor necrosis factors and their receptors and the primary open angle glaucoma in the population of Central Russia.俄罗斯中部人群中肿瘤坏死因子及其受体基因与原发性开角型青光眼
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Hum Mol Genet. 2017 Jan 15;26(2):438-453. doi: 10.1093/hmg/ddw399.
5
A common variant near TGFBR3 is associated with primary open angle glaucoma.转化生长因子β受体3(TGFBR3)附近的一个常见变异与原发性开角型青光眼相关。
Hum Mol Genet. 2015 Jul 1;24(13):3880-92. doi: 10.1093/hmg/ddv128. Epub 2015 Apr 10.
6
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.全基因组关联研究的荟萃分析确定了与视盘形态相关的新基因座。
Genet Epidemiol. 2015 Mar;39(3):207-16. doi: 10.1002/gepi.21886. Epub 2015 Jan 28.
7
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.全基因组关联研究的荟萃分析确定了影响杯盘比和青光眼病变过程的新基因座。
Nat Commun. 2014 Sep 22;5:4883. doi: 10.1038/ncomms5883.
8
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.ABCA1、AFAP1和GMDS附近的常见变异会增加原发性开角型青光眼的患病风险。
Nat Genet. 2014 Oct;46(10):1120-1125. doi: 10.1038/ng.3079. Epub 2014 Aug 31.
9
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.9p21 和 8q22 常见变异与青光眼视神经变性易感性增加相关。
PLoS Genet. 2012;8(4):e1002654. doi: 10.1371/journal.pgen.1002654. Epub 2012 Apr 26.
10
Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese.全基因组关联研究在日本人中鉴定出与青光眼视神经易损性相关的 CDKN2B-AS1 常见变异。
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