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变异与色素播散综合征/色素性青光眼之间缺乏关联:一项荟萃分析。

Lack of Association between Variants and Pigment Dispersion Syndrome/Pigmentary Glaucoma: A Meta-Analysis.

机构信息

Department of Ophthalmology, Massachusetts Eye and Ear, Mass General Brigham, Harvard Medical School, Boston, MA 02114, USA.

Department of Medicine, Brigham and Women's Hospital, Mass General Brigham, Harvard Medical School, Boston, MA 02115, USA.

出版信息

Genes (Basel). 2024 Jan 26;15(2):161. doi: 10.3390/genes15020161.

Abstract

The phenotypic similarities between exfoliation syndrome (XFS)/exfoliation glaucoma (XFG) and pigment dispersion syndrome (PDS)/pigmentary glaucoma (PG), particularly their association with material deposition in the eye's anterior segment, have prompted investigations into genetic commonalities. This study focuses on the gene, conducting a comprehensive meta-analysis of three candidate gene association studies. We analyzed three single nucleotide polymorphisms (SNPs) of : rs1048661, rs3825942, and rs2165241. Our results reveal nominal significance for the exonic SNPs rs1048661 and rs3825942 ( ≤ 0.01), but show no significant association for the intronic SNP rs2165241 ( = 0.83) with PDS/PG. There was homogeneity across study cohorts (I = 0), and sensitivity analyses and funnel plots confirmed a lower likelihood of bias in our findings. The lack of a statistically significant association between variants and PDS/PG at < 0.05 was attributable to the insufficient statistical power of the pooled data, which ranged from 5% to 37% for the three SNPs. This study suggests no association between variants and PDS/PG. Further validation and exploration of XFS/XFG-associated genes in larger and more diverse cohorts would be helpful to determine the genetic correlation or distinctiveness between these conditions.

摘要

剥脱综合征(XFS)/剥脱性青光眼(XFG)和色素播散综合征(PDS)/色素性青光眼(PG)之间存在表型相似性,特别是它们与眼睛前段物质沉积有关,这促使人们对遗传共性进行了研究。本研究集中在 基因上,对三个候选基因关联研究进行了全面的荟萃分析。我们分析了三个单核苷酸多态性(SNP):rs1048661、rs3825942 和 rs2165241。我们的结果表明,外显子 SNP rs1048661 和 rs3825942 具有名义显著性(≤0.01),但内含子 SNP rs2165241 与 PDS/PG 没有显著相关性(=0.83)。研究队列之间具有同质性(I = 0),敏感性分析和漏斗图证实我们的研究结果不太可能存在偏差。在 < 0.05 时, 变异与 PDS/PG 之间没有统计学上的显著关联,这归因于汇总数据的统计效力不足,三个 SNP 的范围从 5%到 37%。本研究表明, 变异与 PDS/PG 之间没有关联。在更大和更多样化的队列中进一步验证和探索与 XFS/XFG 相关的基因,有助于确定这些疾病之间的遗传相关性或独特性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9443/10887793/3f352071ce22/genes-15-00161-g001.jpg

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