Mannan-binding lectin genotypes and genotype–phenotype relationships in a large cohort of Polish neonates
Abstract Circulating mannan (or mannose)-binding lectin (MBL) is genetically determined. Low MBL concentrations are associated with certain point mutations in the human MBL2 gene. Here we report the full MBL2 genotypes of 1800 Polish neonates and relate individual genotypes to serum MBL and MBL-depe...
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| Veröffentlicht in: | Human immunology 2009, Vol.70 (1), p.68-72 |
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| creator | St. Swierzko, Anna Szala, Agnieszka Cedzynski, Maciej Domzalska-Popadiuk, Iwona Borkowska-Klos, Monika Jopek, Aleksandra Szczapa, Jerzy Szemraj, Janusz Atkinson, Anne P.M MacDonald, Shirley L Turner, Marc L Kilpatrick, David C |
| description | Abstract Circulating mannan (or mannose)-binding lectin (MBL) is genetically determined. Low MBL concentrations are associated with certain point mutations in the human MBL2 gene. Here we report the full MBL2 genotypes of 1800 Polish neonates and relate individual genotypes to serum MBL and MBL-dependent activity of the lectin pathway of complement activation. The seven acknowledged common haplotypes were found, plus the uncommon LYPD haplotype, combining to form 33 genotypes in this population. As expected, a strong correlation existed between genotypes and serum MBL or lectin pathway activity, and the latter two entities correlated strongly with each other. However, serum MBL values varied up to greater than 90-fold within genotypes. Unexpectedly, higher lectin pathway activity was found in association with the P allele relative to the Q allele. These data from a large cohort of neonates, representing an ethnically homogenous population, suggest that the current knowledge of the genetics of MBL2 is inadequate to predict serum MBL concentration and MBL-dependent lectin pathway activity in individual subjects. |
| doi_str_mv | 10.1016/j.humimm.2008.10.004 |
| format | Article |
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Low MBL concentrations are associated with certain point mutations in the human MBL2 gene. Here we report the full MBL2 genotypes of 1800 Polish neonates and relate individual genotypes to serum MBL and MBL-dependent activity of the lectin pathway of complement activation. The seven acknowledged common haplotypes were found, plus the uncommon LYPD haplotype, combining to form 33 genotypes in this population. As expected, a strong correlation existed between genotypes and serum MBL or lectin pathway activity, and the latter two entities correlated strongly with each other. However, serum MBL values varied up to greater than 90-fold within genotypes. Unexpectedly, higher lectin pathway activity was found in association with the P allele relative to the Q allele. These data from a large cohort of neonates, representing an ethnically homogenous population, suggest that the current knowledge of the genetics of MBL2 is inadequate to predict serum MBL concentration and MBL-dependent lectin pathway activity in individual subjects.</description><identifier>ISSN: 0198-8859</identifier><identifier>EISSN: 1879-1166</identifier><identifier>DOI: 10.1016/j.humimm.2008.10.004</identifier><identifier>PMID: 18957309</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Alleles ; Allergy and Immunology ; Cohort Studies ; Complement Activation ; Female ; Genotype ; Humans ; Infant, Newborn ; Innate immunity ; Lectin pathway of complement ; Male ; Mannan-binding lectin ; Mannose-Binding Lectin - blood ; Mannose-Binding Lectin - genetics ; MBL2 genotype ; Neonate ; Phenotype ; Poland ; Pregnancy</subject><ispartof>Human immunology, 2009, Vol.70 (1), p.68-72</ispartof><rights>American Society for Histocompatibility and Immunogenetics</rights><rights>2009 American Society for Histocompatibility and Immunogenetics</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c446t-53443a7ecc7e1892a5de67f12623c4a2841dbe1a5488e9729bec05c4356e7803</citedby><cites>FETCH-LOGICAL-c446t-53443a7ecc7e1892a5de67f12623c4a2841dbe1a5488e9729bec05c4356e7803</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.humimm.2008.10.004$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,782,786,3552,4026,27930,27931,27932,46002</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18957309$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>St. Swierzko, Anna</creatorcontrib><creatorcontrib>Szala, Agnieszka</creatorcontrib><creatorcontrib>Cedzynski, Maciej</creatorcontrib><creatorcontrib>Domzalska-Popadiuk, Iwona</creatorcontrib><creatorcontrib>Borkowska-Klos, Monika</creatorcontrib><creatorcontrib>Jopek, Aleksandra</creatorcontrib><creatorcontrib>Szczapa, Jerzy</creatorcontrib><creatorcontrib>Szemraj, Janusz</creatorcontrib><creatorcontrib>Atkinson, Anne P.M</creatorcontrib><creatorcontrib>MacDonald, Shirley L</creatorcontrib><creatorcontrib>Turner, Marc L</creatorcontrib><creatorcontrib>Kilpatrick, David C</creatorcontrib><title>Mannan-binding lectin genotypes and genotype–phenotype relationships in a large cohort of Polish neonates</title><title>Human immunology</title><addtitle>Hum Immunol</addtitle><description>Abstract Circulating mannan (or mannose)-binding lectin (MBL) is genetically determined. Low MBL concentrations are associated with certain point mutations in the human MBL2 gene. Here we report the full MBL2 genotypes of 1800 Polish neonates and relate individual genotypes to serum MBL and MBL-dependent activity of the lectin pathway of complement activation. The seven acknowledged common haplotypes were found, plus the uncommon LYPD haplotype, combining to form 33 genotypes in this population. As expected, a strong correlation existed between genotypes and serum MBL or lectin pathway activity, and the latter two entities correlated strongly with each other. However, serum MBL values varied up to greater than 90-fold within genotypes. Unexpectedly, higher lectin pathway activity was found in association with the P allele relative to the Q allele. These data from a large cohort of neonates, representing an ethnically homogenous population, suggest that the current knowledge of the genetics of MBL2 is inadequate to predict serum MBL concentration and MBL-dependent lectin pathway activity in individual subjects.</description><subject>Adult</subject><subject>Alleles</subject><subject>Allergy and Immunology</subject><subject>Cohort Studies</subject><subject>Complement Activation</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Innate immunity</subject><subject>Lectin pathway of complement</subject><subject>Male</subject><subject>Mannan-binding lectin</subject><subject>Mannose-Binding Lectin - blood</subject><subject>Mannose-Binding Lectin - genetics</subject><subject>MBL2 genotype</subject><subject>Neonate</subject><subject>Phenotype</subject><subject>Poland</subject><subject>Pregnancy</subject><issn>0198-8859</issn><issn>1879-1166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFUk1v1DAQtRAVXQr_ACGfuGWxHccfFyRUAUUqaqX2bnmd2Y23iR3spNLe-A_8Q35JHe0KJC49jWf03vPovUHoHSVrSqj4uF938-CHYc0IUWW0JoS_QCuqpK4oFeIlWhGqVaVUo8_R65z3hBBJJH-FzqnSjayJXqGHHzYEG6qND60PO9yDm3zAOwhxOoyQsQ3t3-7Pr99jd3rjBL2dfAy582PGhWNxb9MOsItdTBOOW3wbe587HCAGO0F-g862ts_w9lQv0P3XL_eXV9X1zbfvl5-vK8e5mKqm5ry2EpyTUBZltmlByC1lgtWOW6Y4bTdAbcOVAi2Z3oAjjeN1I0AqUl-gD0fZMcWfM-TJDD476HtbFpmzEUIRypR4FsgIa7RWTQHyI9ClmHOCrRmTH2w6GErMEobZm2MYZgljmZYwCu39SX_eDND-I53cL4BPRwAUNx49JJOdh-Cg9ankYNron_vhfwHX--Cd7R_gAHkf5xSK04aazAwxd8tBLPdAVGFrKesnPHK0Ow</recordid><startdate>2009</startdate><enddate>2009</enddate><creator>St. Swierzko, Anna</creator><creator>Szala, Agnieszka</creator><creator>Cedzynski, Maciej</creator><creator>Domzalska-Popadiuk, Iwona</creator><creator>Borkowska-Klos, Monika</creator><creator>Jopek, Aleksandra</creator><creator>Szczapa, Jerzy</creator><creator>Szemraj, Janusz</creator><creator>Atkinson, Anne P.M</creator><creator>MacDonald, Shirley L</creator><creator>Turner, Marc L</creator><creator>Kilpatrick, David C</creator><general>Elsevier Inc</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>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>2009</creationdate><title>Mannan-binding lectin genotypes and genotype–phenotype relationships in a large cohort of Polish neonates</title><author>St. Swierzko, Anna ; Szala, Agnieszka ; Cedzynski, Maciej ; Domzalska-Popadiuk, Iwona ; Borkowska-Klos, Monika ; Jopek, Aleksandra ; Szczapa, Jerzy ; Szemraj, Janusz ; Atkinson, Anne P.M ; MacDonald, Shirley L ; Turner, Marc L ; Kilpatrick, David C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c446t-53443a7ecc7e1892a5de67f12623c4a2841dbe1a5488e9729bec05c4356e7803</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Allergy and Immunology</topic><topic>Cohort Studies</topic><topic>Complement Activation</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Innate immunity</topic><topic>Lectin pathway of complement</topic><topic>Male</topic><topic>Mannan-binding lectin</topic><topic>Mannose-Binding Lectin - blood</topic><topic>Mannose-Binding Lectin - genetics</topic><topic>MBL2 genotype</topic><topic>Neonate</topic><topic>Phenotype</topic><topic>Poland</topic><topic>Pregnancy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>St. Swierzko, Anna</creatorcontrib><creatorcontrib>Szala, Agnieszka</creatorcontrib><creatorcontrib>Cedzynski, Maciej</creatorcontrib><creatorcontrib>Domzalska-Popadiuk, Iwona</creatorcontrib><creatorcontrib>Borkowska-Klos, Monika</creatorcontrib><creatorcontrib>Jopek, Aleksandra</creatorcontrib><creatorcontrib>Szczapa, Jerzy</creatorcontrib><creatorcontrib>Szemraj, Janusz</creatorcontrib><creatorcontrib>Atkinson, Anne P.M</creatorcontrib><creatorcontrib>MacDonald, Shirley L</creatorcontrib><creatorcontrib>Turner, Marc L</creatorcontrib><creatorcontrib>Kilpatrick, David C</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>St. Swierzko, Anna</au><au>Szala, Agnieszka</au><au>Cedzynski, Maciej</au><au>Domzalska-Popadiuk, Iwona</au><au>Borkowska-Klos, Monika</au><au>Jopek, Aleksandra</au><au>Szczapa, Jerzy</au><au>Szemraj, Janusz</au><au>Atkinson, Anne P.M</au><au>MacDonald, Shirley L</au><au>Turner, Marc L</au><au>Kilpatrick, David C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mannan-binding lectin genotypes and genotype–phenotype relationships in a large cohort of Polish neonates</atitle><jtitle>Human immunology</jtitle><addtitle>Hum Immunol</addtitle><date>2009</date><risdate>2009</risdate><volume>70</volume><issue>1</issue><spage>68</spage><epage>72</epage><pages>68-72</pages><issn>0198-8859</issn><eissn>1879-1166</eissn><abstract>Abstract Circulating mannan (or mannose)-binding lectin (MBL) is genetically determined. Low MBL concentrations are associated with certain point mutations in the human MBL2 gene. Here we report the full MBL2 genotypes of 1800 Polish neonates and relate individual genotypes to serum MBL and MBL-dependent activity of the lectin pathway of complement activation. The seven acknowledged common haplotypes were found, plus the uncommon LYPD haplotype, combining to form 33 genotypes in this population. As expected, a strong correlation existed between genotypes and serum MBL or lectin pathway activity, and the latter two entities correlated strongly with each other. However, serum MBL values varied up to greater than 90-fold within genotypes. Unexpectedly, higher lectin pathway activity was found in association with the P allele relative to the Q allele. 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| subjects | Adult Alleles Allergy and Immunology Cohort Studies Complement Activation Female Genotype Humans Infant, Newborn Innate immunity Lectin pathway of complement Male Mannan-binding lectin Mannose-Binding Lectin - blood Mannose-Binding Lectin - genetics MBL2 genotype Neonate Phenotype Poland Pregnancy |
| title | Mannan-binding lectin genotypes and genotype–phenotype relationships in a large cohort of Polish neonates |
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