Multiple sclerosis and HLA genotypes: A possible influence on brain atrophy
Background: The strongest genetic determinant for multiple sclerosis (MS) is located at the human leukocyte antigen (HLA) class II DRB1 and DQB1 loci. Objectives: To investigate the possible role of predisposing HLA genotypes in determining brain atrophy. Methods: HLA genotypes were categorized as h...
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| Veröffentlicht in: | Multiple sclerosis 2019-01, Vol.25 (1), p.23-30 |
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| creator | Lorefice, Lorena Fenu, Giuseppe Sardu, Claudia Frau, Jessica Coghe, Giancarlo Costa, Gianna Schirru, Lucia Secci, Maria Antonietta Sechi, Vincenzo Barracciu, Maria Antonietta Marrosu, Maria Giovanna Cocco, Eleonora |
| description | Background:
The strongest genetic determinant for multiple sclerosis (MS) is located at the human leukocyte antigen (HLA) class II DRB1 and DQB1 loci.
Objectives:
To investigate the possible role of predisposing HLA genotypes in determining brain atrophy.
Methods:
HLA genotypes were categorized as high risk (two predisposing haplotypes) or medium/low risk (one or no predisposing haplotypes). Patients underwent a brain magnetic resonance imaging (MRI) study and volumes of white matter (WM), gray matter (GM), and whole brain (WB) were estimated with SIENAX. Longitudinal atrophy was also assessed with SIENA.
Results:
The study included 240 MS patients. In 51/240 (21%) subjects, a high-risk HLA genotype was observed, while medium- and low-risk HLA genotypes were 109/240 (45%) and 80/240 (34%), respectively. Multiple regression analysis found that the high-risk HLA genotype was associated with significant reduction in WB (p = 0.02) and GM (p = 0.03) volumes compared with the medium-/low-risk HLA genotypes, independently from MS clinical features. The longitudinal study included 60 patients and showed a brain volume loss of −0.79% in high-risk HLA genotype group versus −0.56% in low-risk HLA genotype.
Conclusion:
Our results suggest an influence of HLA genotype on WB and GM atrophy. Further investigations are necessary to confirm these findings. |
| doi_str_mv | 10.1177/1352458517739989 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1961641374</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sage_id>10.1177_1352458517739989</sage_id><sourcerecordid>1961641374</sourcerecordid><originalsourceid>FETCH-LOGICAL-c431t-3c3263fbaf0dbb997fae6fef0415c0ff6b74b44dcf5d84dd14eaaee054fdc6ae3</originalsourceid><addsrcrecordid>eNp1kDFPwzAQhS0EoqWwMyFLLCwBX-zEMVtVAUUUscAcOc65pEqdECdD_z2uWkCqxHRPuu-9Oz1CLoHdAkh5BzyJRZIlQXOlMnVExiCkjJiS7DjosI62-xE5837FGAtcckpGsQKALONj8vI61H3V1ki9qbFrfOWpdiWdL6Z0ia7pNy36ezqlbeN9VQSucrYe0BmkjaNFpytHdd817efmnJxYXXu82M8J-Xh8eJ_No8Xb0_NsuoiM4NBH3PA45bbQlpVFoZS0GlOLlglIDLM2LaQohCiNTcpMlCUI1BqRJcKWJtXIJ-Rml9t2zdeAvs_XlTdY19phM_gcVAqpAC5FQK8P0FUzdC58l8cgWcyVBBUotqNMKMB3aPO2q9a62-TA8m3R-WHRwXK1Dx6KNZa_hp9mAxDtAK-X-Hf138Bv_oOFyA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2170239719</pqid></control><display><type>article</type><title>Multiple sclerosis and HLA genotypes: A possible influence on brain atrophy</title><source>SAGE Complete A-Z List</source><source>MEDLINE</source><creator>Lorefice, Lorena ; Fenu, Giuseppe ; Sardu, Claudia ; Frau, Jessica ; Coghe, Giancarlo ; Costa, Gianna ; Schirru, Lucia ; Secci, Maria Antonietta ; Sechi, Vincenzo ; Barracciu, Maria Antonietta ; Marrosu, Maria Giovanna ; Cocco, Eleonora</creator><creatorcontrib>Lorefice, Lorena ; Fenu, Giuseppe ; Sardu, Claudia ; Frau, Jessica ; Coghe, Giancarlo ; Costa, Gianna ; Schirru, Lucia ; Secci, Maria Antonietta ; Sechi, Vincenzo ; Barracciu, Maria Antonietta ; Marrosu, Maria Giovanna ; Cocco, Eleonora</creatorcontrib><description>Background:
The strongest genetic determinant for multiple sclerosis (MS) is located at the human leukocyte antigen (HLA) class II DRB1 and DQB1 loci.
Objectives:
To investigate the possible role of predisposing HLA genotypes in determining brain atrophy.
Methods:
HLA genotypes were categorized as high risk (two predisposing haplotypes) or medium/low risk (one or no predisposing haplotypes). Patients underwent a brain magnetic resonance imaging (MRI) study and volumes of white matter (WM), gray matter (GM), and whole brain (WB) were estimated with SIENAX. Longitudinal atrophy was also assessed with SIENA.
Results:
The study included 240 MS patients. In 51/240 (21%) subjects, a high-risk HLA genotype was observed, while medium- and low-risk HLA genotypes were 109/240 (45%) and 80/240 (34%), respectively. Multiple regression analysis found that the high-risk HLA genotype was associated with significant reduction in WB (p = 0.02) and GM (p = 0.03) volumes compared with the medium-/low-risk HLA genotypes, independently from MS clinical features. The longitudinal study included 60 patients and showed a brain volume loss of −0.79% in high-risk HLA genotype group versus −0.56% in low-risk HLA genotype.
Conclusion:
Our results suggest an influence of HLA genotype on WB and GM atrophy. Further investigations are necessary to confirm these findings.</description><identifier>ISSN: 1352-4585</identifier><identifier>EISSN: 1477-0970</identifier><identifier>DOI: 10.1177/1352458517739989</identifier><identifier>PMID: 29111883</identifier><language>eng</language><publisher>London, England: SAGE Publications</publisher><subject>Adult ; Atrophy ; Brain ; Drb1 protein ; Female ; Genotype & phenotype ; Genotypes ; Gray Matter - diagnostic imaging ; Gray Matter - pathology ; Haplotypes ; Histocompatibility antigen HLA ; HLA-D Antigens - genetics ; HLA-DQ beta-Chains - genetics ; HLA-DRB1 Chains - genetics ; Humans ; Italy ; Longitudinal Studies ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Multiple regression analysis ; Multiple sclerosis ; Multiple Sclerosis - diagnostic imaging ; Multiple Sclerosis - genetics ; Multiple Sclerosis - pathology ; Neuroimaging ; NMR ; Nuclear magnetic resonance ; Substantia alba ; Substantia grisea ; White Matter - diagnostic imaging ; White Matter - pathology</subject><ispartof>Multiple sclerosis, 2019-01, Vol.25 (1), p.23-30</ispartof><rights>The Author(s), 2017</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c431t-3c3263fbaf0dbb997fae6fef0415c0ff6b74b44dcf5d84dd14eaaee054fdc6ae3</citedby><cites>FETCH-LOGICAL-c431t-3c3263fbaf0dbb997fae6fef0415c0ff6b74b44dcf5d84dd14eaaee054fdc6ae3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/1352458517739989$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/1352458517739989$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,776,780,21798,27901,27902,43597,43598</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29111883$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lorefice, Lorena</creatorcontrib><creatorcontrib>Fenu, Giuseppe</creatorcontrib><creatorcontrib>Sardu, Claudia</creatorcontrib><creatorcontrib>Frau, Jessica</creatorcontrib><creatorcontrib>Coghe, Giancarlo</creatorcontrib><creatorcontrib>Costa, Gianna</creatorcontrib><creatorcontrib>Schirru, Lucia</creatorcontrib><creatorcontrib>Secci, Maria Antonietta</creatorcontrib><creatorcontrib>Sechi, Vincenzo</creatorcontrib><creatorcontrib>Barracciu, Maria Antonietta</creatorcontrib><creatorcontrib>Marrosu, Maria Giovanna</creatorcontrib><creatorcontrib>Cocco, Eleonora</creatorcontrib><title>Multiple sclerosis and HLA genotypes: A possible influence on brain atrophy</title><title>Multiple sclerosis</title><addtitle>Mult Scler</addtitle><description>Background:
The strongest genetic determinant for multiple sclerosis (MS) is located at the human leukocyte antigen (HLA) class II DRB1 and DQB1 loci.
Objectives:
To investigate the possible role of predisposing HLA genotypes in determining brain atrophy.
Methods:
HLA genotypes were categorized as high risk (two predisposing haplotypes) or medium/low risk (one or no predisposing haplotypes). Patients underwent a brain magnetic resonance imaging (MRI) study and volumes of white matter (WM), gray matter (GM), and whole brain (WB) were estimated with SIENAX. Longitudinal atrophy was also assessed with SIENA.
Results:
The study included 240 MS patients. In 51/240 (21%) subjects, a high-risk HLA genotype was observed, while medium- and low-risk HLA genotypes were 109/240 (45%) and 80/240 (34%), respectively. Multiple regression analysis found that the high-risk HLA genotype was associated with significant reduction in WB (p = 0.02) and GM (p = 0.03) volumes compared with the medium-/low-risk HLA genotypes, independently from MS clinical features. The longitudinal study included 60 patients and showed a brain volume loss of −0.79% in high-risk HLA genotype group versus −0.56% in low-risk HLA genotype.
Conclusion:
Our results suggest an influence of HLA genotype on WB and GM atrophy. Further investigations are necessary to confirm these findings.</description><subject>Adult</subject><subject>Atrophy</subject><subject>Brain</subject><subject>Drb1 protein</subject><subject>Female</subject><subject>Genotype & phenotype</subject><subject>Genotypes</subject><subject>Gray Matter - diagnostic imaging</subject><subject>Gray Matter - pathology</subject><subject>Haplotypes</subject><subject>Histocompatibility antigen HLA</subject><subject>HLA-D Antigens - genetics</subject><subject>HLA-DQ beta-Chains - genetics</subject><subject>HLA-DRB1 Chains - genetics</subject><subject>Humans</subject><subject>Italy</subject><subject>Longitudinal Studies</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Multiple regression analysis</subject><subject>Multiple sclerosis</subject><subject>Multiple Sclerosis - diagnostic imaging</subject><subject>Multiple Sclerosis - genetics</subject><subject>Multiple Sclerosis - pathology</subject><subject>Neuroimaging</subject><subject>NMR</subject><subject>Nuclear magnetic resonance</subject><subject>Substantia alba</subject><subject>Substantia grisea</subject><subject>White Matter - diagnostic imaging</subject><subject>White Matter - pathology</subject><issn>1352-4585</issn><issn>1477-0970</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kDFPwzAQhS0EoqWwMyFLLCwBX-zEMVtVAUUUscAcOc65pEqdECdD_z2uWkCqxHRPuu-9Oz1CLoHdAkh5BzyJRZIlQXOlMnVExiCkjJiS7DjosI62-xE5837FGAtcckpGsQKALONj8vI61H3V1ki9qbFrfOWpdiWdL6Z0ia7pNy36ezqlbeN9VQSucrYe0BmkjaNFpytHdd817efmnJxYXXu82M8J-Xh8eJ_No8Xb0_NsuoiM4NBH3PA45bbQlpVFoZS0GlOLlglIDLM2LaQohCiNTcpMlCUI1BqRJcKWJtXIJ-Rml9t2zdeAvs_XlTdY19phM_gcVAqpAC5FQK8P0FUzdC58l8cgWcyVBBUotqNMKMB3aPO2q9a62-TA8m3R-WHRwXK1Dx6KNZa_hp9mAxDtAK-X-Hf138Bv_oOFyA</recordid><startdate>20190101</startdate><enddate>20190101</enddate><creator>Lorefice, Lorena</creator><creator>Fenu, Giuseppe</creator><creator>Sardu, Claudia</creator><creator>Frau, Jessica</creator><creator>Coghe, Giancarlo</creator><creator>Costa, Gianna</creator><creator>Schirru, Lucia</creator><creator>Secci, Maria Antonietta</creator><creator>Sechi, Vincenzo</creator><creator>Barracciu, Maria Antonietta</creator><creator>Marrosu, Maria Giovanna</creator><creator>Cocco, Eleonora</creator><general>SAGE Publications</general><general>Sage Publications Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope></search><sort><creationdate>20190101</creationdate><title>Multiple sclerosis and HLA genotypes: A possible influence on brain atrophy</title><author>Lorefice, Lorena ; Fenu, Giuseppe ; Sardu, Claudia ; Frau, Jessica ; Coghe, Giancarlo ; Costa, Gianna ; Schirru, Lucia ; Secci, Maria Antonietta ; Sechi, Vincenzo ; Barracciu, Maria Antonietta ; Marrosu, Maria Giovanna ; Cocco, Eleonora</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c431t-3c3263fbaf0dbb997fae6fef0415c0ff6b74b44dcf5d84dd14eaaee054fdc6ae3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Adult</topic><topic>Atrophy</topic><topic>Brain</topic><topic>Drb1 protein</topic><topic>Female</topic><topic>Genotype & phenotype</topic><topic>Genotypes</topic><topic>Gray Matter - diagnostic imaging</topic><topic>Gray Matter - pathology</topic><topic>Haplotypes</topic><topic>Histocompatibility antigen HLA</topic><topic>HLA-D Antigens - genetics</topic><topic>HLA-DQ beta-Chains - genetics</topic><topic>HLA-DRB1 Chains - genetics</topic><topic>Humans</topic><topic>Italy</topic><topic>Longitudinal Studies</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Multiple regression analysis</topic><topic>Multiple sclerosis</topic><topic>Multiple Sclerosis - diagnostic imaging</topic><topic>Multiple Sclerosis - genetics</topic><topic>Multiple Sclerosis - pathology</topic><topic>Neuroimaging</topic><topic>NMR</topic><topic>Nuclear magnetic resonance</topic><topic>Substantia alba</topic><topic>Substantia grisea</topic><topic>White Matter - diagnostic imaging</topic><topic>White Matter - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lorefice, Lorena</creatorcontrib><creatorcontrib>Fenu, Giuseppe</creatorcontrib><creatorcontrib>Sardu, Claudia</creatorcontrib><creatorcontrib>Frau, Jessica</creatorcontrib><creatorcontrib>Coghe, Giancarlo</creatorcontrib><creatorcontrib>Costa, Gianna</creatorcontrib><creatorcontrib>Schirru, Lucia</creatorcontrib><creatorcontrib>Secci, Maria Antonietta</creatorcontrib><creatorcontrib>Sechi, Vincenzo</creatorcontrib><creatorcontrib>Barracciu, Maria Antonietta</creatorcontrib><creatorcontrib>Marrosu, Maria Giovanna</creatorcontrib><creatorcontrib>Cocco, Eleonora</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Multiple sclerosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lorefice, Lorena</au><au>Fenu, Giuseppe</au><au>Sardu, Claudia</au><au>Frau, Jessica</au><au>Coghe, Giancarlo</au><au>Costa, Gianna</au><au>Schirru, Lucia</au><au>Secci, Maria Antonietta</au><au>Sechi, Vincenzo</au><au>Barracciu, Maria Antonietta</au><au>Marrosu, Maria Giovanna</au><au>Cocco, Eleonora</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Multiple sclerosis and HLA genotypes: A possible influence on brain atrophy</atitle><jtitle>Multiple sclerosis</jtitle><addtitle>Mult Scler</addtitle><date>2019-01-01</date><risdate>2019</risdate><volume>25</volume><issue>1</issue><spage>23</spage><epage>30</epage><pages>23-30</pages><issn>1352-4585</issn><eissn>1477-0970</eissn><abstract>Background:
The strongest genetic determinant for multiple sclerosis (MS) is located at the human leukocyte antigen (HLA) class II DRB1 and DQB1 loci.
Objectives:
To investigate the possible role of predisposing HLA genotypes in determining brain atrophy.
Methods:
HLA genotypes were categorized as high risk (two predisposing haplotypes) or medium/low risk (one or no predisposing haplotypes). Patients underwent a brain magnetic resonance imaging (MRI) study and volumes of white matter (WM), gray matter (GM), and whole brain (WB) were estimated with SIENAX. Longitudinal atrophy was also assessed with SIENA.
Results:
The study included 240 MS patients. In 51/240 (21%) subjects, a high-risk HLA genotype was observed, while medium- and low-risk HLA genotypes were 109/240 (45%) and 80/240 (34%), respectively. Multiple regression analysis found that the high-risk HLA genotype was associated with significant reduction in WB (p = 0.02) and GM (p = 0.03) volumes compared with the medium-/low-risk HLA genotypes, independently from MS clinical features. The longitudinal study included 60 patients and showed a brain volume loss of −0.79% in high-risk HLA genotype group versus −0.56% in low-risk HLA genotype.
Conclusion:
Our results suggest an influence of HLA genotype on WB and GM atrophy. Further investigations are necessary to confirm these findings.</abstract><cop>London, England</cop><pub>SAGE Publications</pub><pmid>29111883</pmid><doi>10.1177/1352458517739989</doi><tpages>8</tpages></addata></record> |
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| ispartof | Multiple sclerosis, 2019-01, Vol.25 (1), p.23-30 |
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| source | SAGE Complete A-Z List; MEDLINE |
| subjects | Adult Atrophy Brain Drb1 protein Female Genotype & phenotype Genotypes Gray Matter - diagnostic imaging Gray Matter - pathology Haplotypes Histocompatibility antigen HLA HLA-D Antigens - genetics HLA-DQ beta-Chains - genetics HLA-DRB1 Chains - genetics Humans Italy Longitudinal Studies Magnetic Resonance Imaging Male Middle Aged Multiple regression analysis Multiple sclerosis Multiple Sclerosis - diagnostic imaging Multiple Sclerosis - genetics Multiple Sclerosis - pathology Neuroimaging NMR Nuclear magnetic resonance Substantia alba Substantia grisea White Matter - diagnostic imaging White Matter - pathology |
| title | Multiple sclerosis and HLA genotypes: A possible influence on brain atrophy |
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