The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome
Background: Mannose-binding lectin gene 2 (MBL2) plays a very important role in the first line of host immune response in Down syndrome (DS). The importance of MBL2 gene polymorphisms in children with DS is unclear, and no research has addressed MBL2 gene polymorphisms in patients with DS. This is t...
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| Veröffentlicht in: | Indian journal of human genetics 2011-05, Vol.17 (2), p.59-64 |
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| creator | Demirhan, Osman Tastemir, Deniz Günesacar, Ramazan Güzel, Ali Irfan Alptekin, Davut |
| description | Background: Mannose-binding lectin gene 2 (MBL2) plays a very important
role in the first line of host immune response in Down syndrome (DS).
The importance of MBL2 gene polymorphisms in children with DS is
unclear, and no research has addressed MBL2 gene polymorphisms in
patients with DS. This is the first report describing an important
association between MBL2 gene polymorphisms and infections in children
with DS. Materials and Methods: We compared the frequency of
single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene
in a cross sectional cohort of 166 children with DS and 229 controls.
Polymorphisms at codons 54 (GGC→GAC) and 57 (GGA→GAA) in
exon 1 of the MBL2 gene were typed by polymerase chain reaction
(PCR)-restriction fragment length polymorphism (RFLP) technique using
the restriction enzymes BshN1 (derivated from Bacillus sphaericus )
and MboII (derivated from Moraxella bovis ), respectively. Results:
MBL2 codon 54 GA genotype frequency was found to be lower in patients
with DS (22.9%) than those of healthy controls (35.8%), differences
were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P =
0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was
detected in none of the DS patients, but only one person in the control
group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P
= 1.000). Conclusion : Our data provides an evidence for the first time
that a homozygote or heterozygote for the variant, MBL2 alleles, is not
associated with infections in patients with DS, and do not influence
the incidence of infections. |
| doi_str_mv | 10.4103/0971-6866.86176 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3214319</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A270707915</galeid><sourcerecordid>A270707915</sourcerecordid><originalsourceid>FETCH-LOGICAL-b5106-d68836ab522fdc4b65da95d5f5cfb904439d5ffed34751fe997e681b00b07fa43</originalsourceid><addsrcrecordid>eNqFkk1v1DAQhiMEokvhzA1ZcOCUrT8SO-ZQqar4kipxKRI3y4nHG1eJvdgJ1f4K_jIO2y4UrYTGkuWZZ8bj8VsULwleVwSzMywFKXnD-brhRPBHxYpI2ZSM02-Pi9UhelI8S-kGY8poJZ8WJ5RiiQWpVsXP6x6QdTFNKMI2xAkZSF10LRikE9IeuXFxaz-hNM1m9w4tGTql0Dk9ueBRsGjU3ocEZeu8cX6DBugm59EGPCCKtmHYjSFue5fGhLK_691gInh066YemXDrUdp5E8MIz4snVg8JXtztp8XXD--vLz-VV18-fr68uCrbmmBeGt40jOu2ptSarmp5bbSsTW3rzrYSVxWT-WDBsErUxIKUAnhDWoxbLKyu2Glxvq-7ndsRTAd-inpQ2-hGHXcqaKceRrzr1Sb8UIySihGZC7y9KxDD9xnSpEaXOhgG7SHMScl8XW5RiP-TuOaCMEkz-fof8ibM0ec5ZAgLyhlZoDd7aKMHUM7bkPvrlpLqggqcTZI6U-URavmQ_JjgwbrsfsCvj_DZDIyuO5pwtk_oYkgpgj3MjmC1aFMt6lOL-tRvbeaMV3-P_MDfi_FPD60Lg_NwILIetbp39pu8CMG5h18LfPDU</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>900726312</pqid></control><display><type>article</type><title>The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome</title><source>CLOCKSS</source><source>Bioline International</source><source>Portico (Triggered Content) Open Access</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>PubMed Central Open Access</source><creator>Demirhan, Osman ; Tastemir, Deniz ; Günesacar, Ramazan ; Güzel, Ali Irfan ; Alptekin, Davut</creator><creatorcontrib>Demirhan, Osman ; Tastemir, Deniz ; Günesacar, Ramazan ; Güzel, Ali Irfan ; Alptekin, Davut</creatorcontrib><description>Background: Mannose-binding lectin gene 2 (MBL2) plays a very important
role in the first line of host immune response in Down syndrome (DS).
The importance of MBL2 gene polymorphisms in children with DS is
unclear, and no research has addressed MBL2 gene polymorphisms in
patients with DS. This is the first report describing an important
association between MBL2 gene polymorphisms and infections in children
with DS. Materials and Methods: We compared the frequency of
single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene
in a cross sectional cohort of 166 children with DS and 229 controls.
Polymorphisms at codons 54 (GGC→GAC) and 57 (GGA→GAA) in
exon 1 of the MBL2 gene were typed by polymerase chain reaction
(PCR)-restriction fragment length polymorphism (RFLP) technique using
the restriction enzymes BshN1 (derivated from Bacillus sphaericus )
and MboII (derivated from Moraxella bovis ), respectively. Results:
MBL2 codon 54 GA genotype frequency was found to be lower in patients
with DS (22.9%) than those of healthy controls (35.8%), differences
were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P =
0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was
detected in none of the DS patients, but only one person in the control
group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P
= 1.000). Conclusion : Our data provides an evidence for the first time
that a homozygote or heterozygote for the variant, MBL2 alleles, is not
associated with infections in patients with DS, and do not influence
the incidence of infections.</description><identifier>ISSN: 0971-6866</identifier><identifier>EISSN: 1998-362X</identifier><identifier>DOI: 10.4103/0971-6866.86176</identifier><identifier>PMID: 22090714</identifier><language>eng</language><publisher>India: Medknow Publications on behalf of Indian Society of Human Genetics</publisher><subject>Autoimmune diseases ; Bacillus sphaericus ; Care and treatment ; Diagnosis ; Down syndrome ; Down syndrome, Mannose-binding lectin gene 2 gene polymorphisms, single-nucleotide polymorphisms ; Genetic polymorphisms ; Genetics ; Genotype & phenotype ; Haplotypes ; Hypothyroidism ; Identification and classification ; Mannan-binding lectin ; Molecular weight ; Moraxella bovis ; Mutation ; Original ; Properties ; Risk factors</subject><ispartof>Indian journal of human genetics, 2011-05, Vol.17 (2), p.59-64</ispartof><rights>Copyright 2011 Indian Journal of Human Genetics.</rights><rights>COPYRIGHT 2011 Medknow Publications and Media Pvt. Ltd.</rights><rights>Copyright Medknow Publications & Media Pvt Ltd 2011</rights><rights>Copyright: © Indian Journal of Human Genetics 2011</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b5106-d68836ab522fdc4b65da95d5f5cfb904439d5ffed34751fe997e681b00b07fa43</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214319/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214319/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768,79168</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22090714$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Demirhan, Osman</creatorcontrib><creatorcontrib>Tastemir, Deniz</creatorcontrib><creatorcontrib>Günesacar, Ramazan</creatorcontrib><creatorcontrib>Güzel, Ali Irfan</creatorcontrib><creatorcontrib>Alptekin, Davut</creatorcontrib><title>The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome</title><title>Indian journal of human genetics</title><addtitle>Indian J Hum Genet</addtitle><description>Background: Mannose-binding lectin gene 2 (MBL2) plays a very important
role in the first line of host immune response in Down syndrome (DS).
The importance of MBL2 gene polymorphisms in children with DS is
unclear, and no research has addressed MBL2 gene polymorphisms in
patients with DS. This is the first report describing an important
association between MBL2 gene polymorphisms and infections in children
with DS. Materials and Methods: We compared the frequency of
single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene
in a cross sectional cohort of 166 children with DS and 229 controls.
Polymorphisms at codons 54 (GGC→GAC) and 57 (GGA→GAA) in
exon 1 of the MBL2 gene were typed by polymerase chain reaction
(PCR)-restriction fragment length polymorphism (RFLP) technique using
the restriction enzymes BshN1 (derivated from Bacillus sphaericus )
and MboII (derivated from Moraxella bovis ), respectively. Results:
MBL2 codon 54 GA genotype frequency was found to be lower in patients
with DS (22.9%) than those of healthy controls (35.8%), differences
were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P =
0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was
detected in none of the DS patients, but only one person in the control
group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P
= 1.000). Conclusion : Our data provides an evidence for the first time
that a homozygote or heterozygote for the variant, MBL2 alleles, is not
associated with infections in patients with DS, and do not influence
the incidence of infections.</description><subject>Autoimmune diseases</subject><subject>Bacillus sphaericus</subject><subject>Care and treatment</subject><subject>Diagnosis</subject><subject>Down syndrome</subject><subject>Down syndrome, Mannose-binding lectin gene 2 gene polymorphisms, single-nucleotide polymorphisms</subject><subject>Genetic polymorphisms</subject><subject>Genetics</subject><subject>Genotype & phenotype</subject><subject>Haplotypes</subject><subject>Hypothyroidism</subject><subject>Identification and classification</subject><subject>Mannan-binding lectin</subject><subject>Molecular weight</subject><subject>Moraxella bovis</subject><subject>Mutation</subject><subject>Original</subject><subject>Properties</subject><subject>Risk factors</subject><issn>0971-6866</issn><issn>1998-362X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>RBI</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqFkk1v1DAQhiMEokvhzA1ZcOCUrT8SO-ZQqar4kipxKRI3y4nHG1eJvdgJ1f4K_jIO2y4UrYTGkuWZZ8bj8VsULwleVwSzMywFKXnD-brhRPBHxYpI2ZSM02-Pi9UhelI8S-kGY8poJZ8WJ5RiiQWpVsXP6x6QdTFNKMI2xAkZSF10LRikE9IeuXFxaz-hNM1m9w4tGTql0Dk9ueBRsGjU3ocEZeu8cX6DBugm59EGPCCKtmHYjSFue5fGhLK_691gInh066YemXDrUdp5E8MIz4snVg8JXtztp8XXD--vLz-VV18-fr68uCrbmmBeGt40jOu2ptSarmp5bbSsTW3rzrYSVxWT-WDBsErUxIKUAnhDWoxbLKyu2Glxvq-7ndsRTAd-inpQ2-hGHXcqaKceRrzr1Sb8UIySihGZC7y9KxDD9xnSpEaXOhgG7SHMScl8XW5RiP-TuOaCMEkz-fof8ibM0ec5ZAgLyhlZoDd7aKMHUM7bkPvrlpLqggqcTZI6U-URavmQ_JjgwbrsfsCvj_DZDIyuO5pwtk_oYkgpgj3MjmC1aFMt6lOL-tRvbeaMV3-P_MDfi_FPD60Lg_NwILIetbp39pu8CMG5h18LfPDU</recordid><startdate>201105</startdate><enddate>201105</enddate><creator>Demirhan, Osman</creator><creator>Tastemir, Deniz</creator><creator>Günesacar, Ramazan</creator><creator>Güzel, Ali Irfan</creator><creator>Alptekin, Davut</creator><general>Medknow Publications on behalf of Indian Society of Human Genetics</general><general>Medknow Publications and Media Pvt. Ltd</general><general>Medknow Publications & Media Pvt. Ltd</general><general>Medknow Publications</general><scope>RBI</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88I</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</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>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PADUT</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201105</creationdate><title>The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome</title><author>Demirhan, Osman ; Tastemir, Deniz ; Günesacar, Ramazan ; Güzel, Ali Irfan ; Alptekin, Davut</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b5106-d68836ab522fdc4b65da95d5f5cfb904439d5ffed34751fe997e681b00b07fa43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Autoimmune diseases</topic><topic>Bacillus sphaericus</topic><topic>Care and treatment</topic><topic>Diagnosis</topic><topic>Down syndrome</topic><topic>Down syndrome, Mannose-binding lectin gene 2 gene polymorphisms, single-nucleotide polymorphisms</topic><topic>Genetic polymorphisms</topic><topic>Genetics</topic><topic>Genotype & phenotype</topic><topic>Haplotypes</topic><topic>Hypothyroidism</topic><topic>Identification and classification</topic><topic>Mannan-binding lectin</topic><topic>Molecular weight</topic><topic>Moraxella bovis</topic><topic>Mutation</topic><topic>Original</topic><topic>Properties</topic><topic>Risk factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Demirhan, Osman</creatorcontrib><creatorcontrib>Tastemir, Deniz</creatorcontrib><creatorcontrib>Günesacar, Ramazan</creatorcontrib><creatorcontrib>Güzel, Ali Irfan</creatorcontrib><creatorcontrib>Alptekin, Davut</creatorcontrib><collection>Bioline International</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Research Library China</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>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Indian journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Demirhan, Osman</au><au>Tastemir, Deniz</au><au>Günesacar, Ramazan</au><au>Güzel, Ali Irfan</au><au>Alptekin, Davut</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome</atitle><jtitle>Indian journal of human genetics</jtitle><addtitle>Indian J Hum Genet</addtitle><date>2011-05</date><risdate>2011</risdate><volume>17</volume><issue>2</issue><spage>59</spage><epage>64</epage><pages>59-64</pages><issn>0971-6866</issn><eissn>1998-362X</eissn><abstract>Background: Mannose-binding lectin gene 2 (MBL2) plays a very important
role in the first line of host immune response in Down syndrome (DS).
The importance of MBL2 gene polymorphisms in children with DS is
unclear, and no research has addressed MBL2 gene polymorphisms in
patients with DS. This is the first report describing an important
association between MBL2 gene polymorphisms and infections in children
with DS. Materials and Methods: We compared the frequency of
single-nucleotide polymorphisms (SNPs) at two codons of the MBL2 gene
in a cross sectional cohort of 166 children with DS and 229 controls.
Polymorphisms at codons 54 (GGC→GAC) and 57 (GGA→GAA) in
exon 1 of the MBL2 gene were typed by polymerase chain reaction
(PCR)-restriction fragment length polymorphism (RFLP) technique using
the restriction enzymes BshN1 (derivated from Bacillus sphaericus )
and MboII (derivated from Moraxella bovis ), respectively. Results:
MBL2 codon 54 GA genotype frequency was found to be lower in patients
with DS (22.9%) than those of healthy controls (35.8%), differences
were statistically significant (OR = 0.532, 95% CI = 0.339-0.836, P =
0.008). On the other hand, codon 57 polymorphism in the MBL2 gene was
detected in none of the DS patients, but only one person in the control
group showed codon 57 GA genotype (OR = 1.004, 95% CI = 0.996-1.013, P
= 1.000). Conclusion : Our data provides an evidence for the first time
that a homozygote or heterozygote for the variant, MBL2 alleles, is not
associated with infections in patients with DS, and do not influence
the incidence of infections.</abstract><cop>India</cop><pub>Medknow Publications on behalf of Indian Society of Human Genetics</pub><pmid>22090714</pmid><doi>10.4103/0971-6866.86176</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Indian journal of human genetics, 2011-05, Vol.17 (2), p.59-64 |
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| language | eng |
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| source | CLOCKSS; Bioline International; Portico (Triggered Content) Open Access; EZB-FREE-00999 freely available EZB journals; PubMed Central; PubMed Central Open Access |
| subjects | Autoimmune diseases Bacillus sphaericus Care and treatment Diagnosis Down syndrome Down syndrome, Mannose-binding lectin gene 2 gene polymorphisms, single-nucleotide polymorphisms Genetic polymorphisms Genetics Genotype & phenotype Haplotypes Hypothyroidism Identification and classification Mannan-binding lectin Molecular weight Moraxella bovis Mutation Original Properties Risk factors |
| title | The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome |
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