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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Genetic Lingo

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Glaucoma: Overview

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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Updated: Jul 5, 2025

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Published on: June 3, 2018

緑内障の遺伝子研究を多様にする

David A Mackey¹, Sandra E Staffieri²

¹Lions Eye Institute, University of Western Australia, Perth, WA, Australia; Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.

|January 19, 2024

まとめ

現在グラウコマの遺伝子研究にはアフリカ人の祖先が含まれておりヨーロッパ人の集団と共通する危険因子を明らかにしていますこの研究はアフリカ系の人々の緑内障の多遺伝子リスクスコアを精製しています

さらに関連する動画

In Vivo Dynamics of Retinal Microglial Activation During Neurodegeneration: Confocal Ophthalmoscopic Imaging and Cell Morphometry in Mouse Glaucoma

In Vivo Dynamics of Retinal Microglial Activation During Neurodegeneration: Confocal Ophthalmoscopic Imaging and Cell Morphometry in Mouse Glaucoma

Published on: May 11, 2015

Full-Circle Cauterization of Limbal Vascular Plexus for Surgically Induced Glaucoma in Rodents

Full-Circle Cauterization of Limbal Vascular Plexus for Surgically Induced Glaucoma in Rodents

Published on: February 15, 2022

関連する実験動画

Last Updated: Jul 5, 2025

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Laser Capture Microdissection of Highly Pure Trabecular Meshwork from Mouse Eyes for Gene Expression Analysis

Published on: June 3, 2018

In Vivo Dynamics of Retinal Microglial Activation During Neurodegeneration: Confocal Ophthalmoscopic Imaging and Cell Morphometry in Mouse Glaucoma

In Vivo Dynamics of Retinal Microglial Activation During Neurodegeneration: Confocal Ophthalmoscopic Imaging and Cell Morphometry in Mouse Glaucoma

Published on: May 11, 2015

Full-Circle Cauterization of Limbal Vascular Plexus for Surgically Induced Glaucoma in Rodents

Full-Circle Cauterization of Limbal Vascular Plexus for Surgically Induced Glaucoma in Rodents

Published on: February 15, 2022

科学分野:

眼科について
遺伝学
人口の健康

背景:

グラウコマは盲目の主要な原因でアフリカ系の人々を圧倒的に影響しています
以前グラウコマに関する遺伝学的な研究は主にヨーロッパ人の祖先に焦点を当てて多様な集団を除外していました
このギャップは異なる祖先における緑内障の遺伝子構造の理解を制限しています

研究の目的:

特にアフリカ系の人々のグラウコマに関する全ゲノム関連研究 (GWAS) を実施する.
低評価の集団におけるグラウコマリスクに関連する遺伝的変異を特定する.
ヨーロッパの祖先集団のGWASデータと比較し,多遺伝子リスクスコアを洗練する.

主な方法:

アフリカ系の人々のコホートにおける全ゲノム関連研究 (GWAS).
遺伝子変異の分析と緑内障との関連
欧州の祖先GWASで以前報告されたものと特定された場所の比較.
アフリカの祖先に合わせた多遺伝子リスクスコア (PRS) の開発と改良

主要な成果:

アフリカ系の人々の緑内障リスクに関連した遺伝的場所の特定.
アフリカとヨーロッパの祖先の間で緑内障に関連した遺伝的要因が重なり合っていることが示されています.
ポリジェニックリスクスコアを改良し,アフリカの祖先集団における緑内障の予測精度を向上させました.

結論:

緑内障の遺伝学の研究は公平な理解と治療を確保するために多様な祖先を優先しなければなりません
祖先に共通する遺伝的危険因子がありますが,祖先に特有の変種も貢献しています.
アフリカの祖先に対するポリジェニックリスクスコアの改善は,早期のグラウコマの検出と介入に役立ちます.