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Genetic Insights into Age-Related Macular Degeneration
One of the major causes of vision impairment among elderly people in developed nations is age-related macular degeneration (AMD). The distinctive features of AMD are the accumulation of extracellular deposits called drusen and the gradual deterioration of photoreceptors and nearby tissues in the mac...
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| Published in: | Biomedicines 2024-07, Vol.12 (7), p.1479 |
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| creator | Bhumika Bora, Nalini S Bora, Puran S |
| description | One of the major causes of vision impairment among elderly people in developed nations is age-related macular degeneration (AMD). The distinctive features of AMD are the accumulation of extracellular deposits called drusen and the gradual deterioration of photoreceptors and nearby tissues in the macula. AMD is a complex and multifaceted disease influenced by several factors such as aging, environmental risk factors, and a person's genetic susceptibility to the condition. The interaction among these factors leads to the initiation and advancement of AMD, where genetic predisposition plays a crucial role. With the advent of high-throughput genotyping technologies, many novel genetic loci associated with AMD have been identified, enhancing our knowledge of its genetic architecture. The common genetic variants linked to AMD are found on chromosome 1q32 (in the complement factor H gene) and 10q26 (age-related maculopathy susceptibility 2 and high-temperature requirement A serine peptidase 1 genes) loci, along with several other risk variants. This review summarizes the common genetic variants of complement pathways, lipid metabolism, and extracellular matrix proteins associated with AMD risk, highlighting the intricate pathways contributing to AMD pathogenesis. Knowledge of the genetic underpinnings of AMD will allow for the future development of personalized diagnostics and targeted therapeutic interventions, paving the way for more effective management of AMD and improved outcomes for affected individuals. |
| doi_str_mv | 10.3390/biomedicines12071479 |
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The distinctive features of AMD are the accumulation of extracellular deposits called drusen and the gradual deterioration of photoreceptors and nearby tissues in the macula. AMD is a complex and multifaceted disease influenced by several factors such as aging, environmental risk factors, and a person's genetic susceptibility to the condition. The interaction among these factors leads to the initiation and advancement of AMD, where genetic predisposition plays a crucial role. With the advent of high-throughput genotyping technologies, many novel genetic loci associated with AMD have been identified, enhancing our knowledge of its genetic architecture. The common genetic variants linked to AMD are found on chromosome 1q32 (in the complement factor H gene) and 10q26 (age-related maculopathy susceptibility 2 and high-temperature requirement A serine peptidase 1 genes) loci, along with several other risk variants. This review summarizes the common genetic variants of complement pathways, lipid metabolism, and extracellular matrix proteins associated with AMD risk, highlighting the intricate pathways contributing to AMD pathogenesis. Knowledge of the genetic underpinnings of AMD will allow for the future development of personalized diagnostics and targeted therapeutic interventions, paving the way for more effective management of AMD and improved outcomes for affected individuals.</description><identifier>ISSN: 2227-9059</identifier><identifier>EISSN: 2227-9059</identifier><identifier>DOI: 10.3390/biomedicines12071479</identifier><identifier>PMID: 39062052</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Age ; Aging ; AMD ; Angiogenesis ; Atrophy ; Blood vessels ; CFH ; choroidal neovascularization ; Chromosome 1 ; Chromosome 10 ; Complement factor H ; complementary proteins ; drusen ; Ethnicity ; Extracellular matrix ; Family medical history ; Genes ; Genetic diversity ; Genotyping ; geographic atrophy ; Geriatrics ; H gene ; Inflammation ; Lipid metabolism ; Lipids ; Macular degeneration ; Metabolism ; Nutrition research ; Older people ; Pathogens ; Photoreceptors ; Proteins ; Retina ; Retinal degeneration ; Risk factors ; Serine peptidase ; Temperature requirements ; Therapeutic applications</subject><ispartof>Biomedicines, 2024-07, Vol.12 (7), p.1479</ispartof><rights>2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c326t-c968b68febf3cb6bb24c42e0468dd785baa17f7070034f8da89106a6b37c26cc3</cites><orcidid>0000-0003-4781-1217 ; 0000-0002-6304-1980</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/3084746670/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/3084746670?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,25753,27924,27925,37012,37013,44590,74998</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39062052$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bhumika</creatorcontrib><creatorcontrib>Bora, Nalini S</creatorcontrib><creatorcontrib>Bora, Puran S</creatorcontrib><title>Genetic Insights into Age-Related Macular Degeneration</title><title>Biomedicines</title><addtitle>Biomedicines</addtitle><description>One of the major causes of vision impairment among elderly people in developed nations is age-related macular degeneration (AMD). The distinctive features of AMD are the accumulation of extracellular deposits called drusen and the gradual deterioration of photoreceptors and nearby tissues in the macula. AMD is a complex and multifaceted disease influenced by several factors such as aging, environmental risk factors, and a person's genetic susceptibility to the condition. The interaction among these factors leads to the initiation and advancement of AMD, where genetic predisposition plays a crucial role. With the advent of high-throughput genotyping technologies, many novel genetic loci associated with AMD have been identified, enhancing our knowledge of its genetic architecture. The common genetic variants linked to AMD are found on chromosome 1q32 (in the complement factor H gene) and 10q26 (age-related maculopathy susceptibility 2 and high-temperature requirement A serine peptidase 1 genes) loci, along with several other risk variants. This review summarizes the common genetic variants of complement pathways, lipid metabolism, and extracellular matrix proteins associated with AMD risk, highlighting the intricate pathways contributing to AMD pathogenesis. Knowledge of the genetic underpinnings of AMD will allow for the future development of personalized diagnostics and targeted therapeutic interventions, paving the way for more effective management of AMD and improved outcomes for affected individuals.</description><subject>Age</subject><subject>Aging</subject><subject>AMD</subject><subject>Angiogenesis</subject><subject>Atrophy</subject><subject>Blood vessels</subject><subject>CFH</subject><subject>choroidal neovascularization</subject><subject>Chromosome 1</subject><subject>Chromosome 10</subject><subject>Complement factor H</subject><subject>complementary proteins</subject><subject>drusen</subject><subject>Ethnicity</subject><subject>Extracellular matrix</subject><subject>Family medical history</subject><subject>Genes</subject><subject>Genetic diversity</subject><subject>Genotyping</subject><subject>geographic atrophy</subject><subject>Geriatrics</subject><subject>H gene</subject><subject>Inflammation</subject><subject>Lipid metabolism</subject><subject>Lipids</subject><subject>Macular degeneration</subject><subject>Metabolism</subject><subject>Nutrition research</subject><subject>Older people</subject><subject>Pathogens</subject><subject>Photoreceptors</subject><subject>Proteins</subject><subject>Retina</subject><subject>Retinal degeneration</subject><subject>Risk factors</subject><subject>Serine peptidase</subject><subject>Temperature requirements</subject><subject>Therapeutic applications</subject><issn>2227-9059</issn><issn>2227-9059</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNptkctKAzEUhoMoKuobiAy4cTOaW3NZFq-FiiC6DknmTE2ZTjSZWfj2plZFxGwSku9854QfoWOCzxnT-MKFuIIm-NBDJhRLwqXeQvuUUllrPNHbv8576CjnJS5LE6YI30V7RSEontB9JG6hhyH4atbnsHgZchX6IVbTBdSP0NkBmure-rGzqbqCRWGTHULsD9FOa7sMR1_7AXq-uX66vKvnD7ezy-m89oyKofZaKCdUC65l3gnnKPecAuZCNY1UE2ctka3EEmPGW9VYpQkWVjgmPRXeswM023ibaJfmNYWVTe8m2mA-L2JaGJvK-B0YwkFy5xtKHefEWw1YUcdoo0npjmVxnW1crym-jZAHswrZQ9fZHuKYDcNqQohUco2e_kGXcUx9-ema4pILIXGh-IbyKeacoP0ZkGCzjsn8F1MpO_mSj668_hR9h8I-AAxNjtc</recordid><startdate>20240704</startdate><enddate>20240704</enddate><creator>Bhumika</creator><creator>Bora, Nalini S</creator><creator>Bora, Puran S</creator><general>MDPI AG</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>DOA</scope><orcidid>https://orcid.org/0000-0003-4781-1217</orcidid><orcidid>https://orcid.org/0000-0002-6304-1980</orcidid></search><sort><creationdate>20240704</creationdate><title>Genetic Insights into Age-Related Macular Degeneration</title><author>Bhumika ; Bora, Nalini S ; Bora, Puran S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c326t-c968b68febf3cb6bb24c42e0468dd785baa17f7070034f8da89106a6b37c26cc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Age</topic><topic>Aging</topic><topic>AMD</topic><topic>Angiogenesis</topic><topic>Atrophy</topic><topic>Blood vessels</topic><topic>CFH</topic><topic>choroidal neovascularization</topic><topic>Chromosome 1</topic><topic>Chromosome 10</topic><topic>Complement factor H</topic><topic>complementary proteins</topic><topic>drusen</topic><topic>Ethnicity</topic><topic>Extracellular matrix</topic><topic>Family medical history</topic><topic>Genes</topic><topic>Genetic diversity</topic><topic>Genotyping</topic><topic>geographic atrophy</topic><topic>Geriatrics</topic><topic>H gene</topic><topic>Inflammation</topic><topic>Lipid metabolism</topic><topic>Lipids</topic><topic>Macular degeneration</topic><topic>Metabolism</topic><topic>Nutrition research</topic><topic>Older people</topic><topic>Pathogens</topic><topic>Photoreceptors</topic><topic>Proteins</topic><topic>Retina</topic><topic>Retinal degeneration</topic><topic>Risk factors</topic><topic>Serine peptidase</topic><topic>Temperature requirements</topic><topic>Therapeutic applications</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bhumika</creatorcontrib><creatorcontrib>Bora, Nalini S</creatorcontrib><creatorcontrib>Bora, Puran S</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection (Proquest) (PQ_SDU_P3)</collection><collection>Biological Sciences</collection><collection>Biological Science Database</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Biomedicines</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bhumika</au><au>Bora, Nalini S</au><au>Bora, Puran S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic Insights into Age-Related Macular Degeneration</atitle><jtitle>Biomedicines</jtitle><addtitle>Biomedicines</addtitle><date>2024-07-04</date><risdate>2024</risdate><volume>12</volume><issue>7</issue><spage>1479</spage><pages>1479-</pages><issn>2227-9059</issn><eissn>2227-9059</eissn><abstract>One of the major causes of vision impairment among elderly people in developed nations is age-related macular degeneration (AMD). The distinctive features of AMD are the accumulation of extracellular deposits called drusen and the gradual deterioration of photoreceptors and nearby tissues in the macula. AMD is a complex and multifaceted disease influenced by several factors such as aging, environmental risk factors, and a person's genetic susceptibility to the condition. The interaction among these factors leads to the initiation and advancement of AMD, where genetic predisposition plays a crucial role. With the advent of high-throughput genotyping technologies, many novel genetic loci associated with AMD have been identified, enhancing our knowledge of its genetic architecture. The common genetic variants linked to AMD are found on chromosome 1q32 (in the complement factor H gene) and 10q26 (age-related maculopathy susceptibility 2 and high-temperature requirement A serine peptidase 1 genes) loci, along with several other risk variants. This review summarizes the common genetic variants of complement pathways, lipid metabolism, and extracellular matrix proteins associated with AMD risk, highlighting the intricate pathways contributing to AMD pathogenesis. Knowledge of the genetic underpinnings of AMD will allow for the future development of personalized diagnostics and targeted therapeutic interventions, paving the way for more effective management of AMD and improved outcomes for affected individuals.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>39062052</pmid><doi>10.3390/biomedicines12071479</doi><orcidid>https://orcid.org/0000-0003-4781-1217</orcidid><orcidid>https://orcid.org/0000-0002-6304-1980</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Age Aging AMD Angiogenesis Atrophy Blood vessels CFH choroidal neovascularization Chromosome 1 Chromosome 10 Complement factor H complementary proteins drusen Ethnicity Extracellular matrix Family medical history Genes Genetic diversity Genotyping geographic atrophy Geriatrics H gene Inflammation Lipid metabolism Lipids Macular degeneration Metabolism Nutrition research Older people Pathogens Photoreceptors Proteins Retina Retinal degeneration Risk factors Serine peptidase Temperature requirements Therapeutic applications |
| title | Genetic Insights into Age-Related Macular Degeneration |
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