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CDKN2B-AS1 多态性与原发性开角型青光眼易感性的遗传关联：来自 21775 名受试者的荟萃分析。

Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma (POAG): a meta-analysis from 21,775 subjects.

机构信息

Department of Ophthalmology, The Fourth People's Hospital of Shenyang, Huanggu District, 20 Huanghe South Street, Shenyang, 11031, China.

出版信息

Ir J Med Sci. 2022 Oct;191(5):2385-2392. doi: 10.1007/s11845-021-02794-x. Epub 2021 Oct 14.

DOI:10.1007/s11845-021-02794-x
PMID:34648117
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9492586/
Abstract

BACKGROUND: Primary open-angle glaucoma (POAG) is affected by both genetics and environmental factors. CDKN2B-AS1 polymorphisms have been reported to be involved in the pathogenesis of POAG. However, the results of the genetic associations between the CDKN2B-AS1 polymorphisms and POAG risk were inconclusive. AIMS: This study aimed to evaluate the correlation of CDKN2B-AS1 polymorphisms and POAG susceptibility using a meta-analysis. METHODS: Meta-analysis was performed by searching PubMed, Web of science, the Cochrane database of system reviews, CNKI, and Embase databases. The relationship of CDKN2B-AS1 rs4977756, rs10120688, rs2157719, and rs7049105 polymorphisms and POAG risk was evaluated by the odds ratios (ORs) and 95% confidence intervals (CIs). RESULTS: Eleven studies with 8290 cases and 13,485 controls were included in the present meta-analysis. The alleles of rs4977756 and rs10120688 significantly increased the risk of POAG (rs4977756: OR = 1.20, 95%CI = 1.03-1.39, p = 0.02; rs10120688: OR = 1.36, 95%CI = 1.29-1.44, p < 0.00001). As for ethnicity, rs4977756 polymorphism significantly increased POAG risk in Caucasians (OR = 1.33, 95%CI = 1.12-1.57, p = 0.0009), but not in Asians. In addition, the rs2157719 allele was significantly associated with POAG risk in Asians (OR = 0.66, 95%CI = 0.55-0.80, p < 0.0001), but not in Caucasians (p > 0.05). CONCLUSIONS: The CDKN2B-AS1 rs4977756 might increase the POAG risk in Caucasian population, and rs2157719 might decrease the POAG risk in Asian population, while rs10120688 might increase the risk of POAG.

摘要

背景：原发性开角型青光眼（POAG）受遗传和环境因素的影响。CDKN2B-AS1 多态性已被报道与 POAG 的发病机制有关。然而，CDKN2B-AS1 多态性与 POAG 风险之间的遗传关联的结果尚无定论。

目的：本研究旨在通过荟萃分析评估 CDKN2B-AS1 多态性与 POAG 易感性的相关性。

方法：通过检索 PubMed、Web of Science、Cochrane 系统评价数据库、CNKI 和 Embase 数据库进行荟萃分析。使用优势比（OR）和 95%置信区间（CI）评估 CDKN2B-AS1 rs4977756、rs10120688、rs2157719 和 rs7049105 多态性与 POAG 风险的关系。

结果：本荟萃分析纳入了 11 项研究，共 8290 例病例和 13485 例对照。rs4977756 和 rs10120688 的等位基因显著增加了 POAG 的风险（rs4977756：OR=1.20，95%CI=1.03-1.39，p=0.02；rs10120688：OR=1.36，95%CI=1.29-1.44，p<0.00001）。就种族而言，rs4977756 多态性显著增加了高加索人 POAG 的风险（OR=1.33，95%CI=1.12-1.57，p=0.0009），但在亚洲人中没有。此外，rs2157719 等位基因与亚洲人 POAG 风险显著相关（OR=0.66，95%CI=0.55-0.80，p<0.0001），但与高加索人无关（p>0.05）。

结论：CDKN2B-AS1 rs4977756 可能增加高加索人群 POAG 的风险，rs2157719 可能降低亚洲人群 POAG 的风险，而 rs10120688 可能增加 POAG 的风险。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d37/9492586/875e599479f2/11845_2021_2794_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d37/9492586/de5e53b6a83f/11845_2021_2794_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d37/9492586/7f81a6ad636c/11845_2021_2794_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d37/9492586/3c0aa07c978a/11845_2021_2794_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d37/9492586/875e599479f2/11845_2021_2794_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d37/9492586/de5e53b6a83f/11845_2021_2794_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d37/9492586/7f81a6ad636c/11845_2021_2794_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d37/9492586/3c0aa07c978a/11845_2021_2794_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d37/9492586/875e599479f2/11845_2021_2794_Fig4_HTML.jpg

相似文献

[1]
Genetic association between CDKN2B-AS1 polymorphisms and the susceptibility of primary open-angle glaucoma (POAG): a meta-analysis from 21,775 subjects.

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[2]
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BMC Med Genomics. 2021-1-4

[3]
CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States.

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[4]
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Ophthalmic Genet. 2021-12

[5]
[Analysis of the functional role of polymorphism in the CDKN2B-AS1 gene GWAS-significant for primary open-angle glaucoma (an in-silico study)].

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[6]
Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil.

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[7]
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[8]
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[9]
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[10]
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本文引用的文献

[1]
Ocular blood flow as it relates to race and disease on glaucoma.

Adv Ophthalmol Optom. 2021-8

[2]
Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.

Int Ophthalmol. 2021-10

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Cell Tissue Res. 2020-11

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Br J Ophthalmol. 2021-5

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Am J Case Rep. 2020-1-12

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J Glaucoma. 2019-11

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Roles of the Chr.9p21.3 Locus in Regulating Inflammation and Implications for Anti-Inflammatory Drug Target Identification.

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Pathophysiology of primary open-angle glaucoma from a neuroinflammatory and neurotoxicity perspective: a review of the literature.

Int Ophthalmol. 2019-1

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Polymorphism rs10483727 in the SIX1/SIX6 Gene Locus Is a Risk Factor for Primary Open Angle Glaucoma in a Saudi Cohort.

Genet Test Mol Biomarkers. 2018-1

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Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil.

Ophthalmic Genet. 2018-4

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