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Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations

Increased susceptibility to cleft lip, with or without cleft palate (CL±P) has been observed in South America, as related to Amerindian ancestry, using epidemiological data, uniparental markers, and blood groups. In this study, it was evaluated whether this increased risk remains when Amerindian anc...

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Published in:	European journal of oral sciences 2016-08, Vol.124 (4), p.406-411
Main Authors:	Vieira-Machado, Camilla D., de Carvalho, Flavia M., Santana da Silva, Luiz C., dos Santos, Sidney E., Martins, Claudia, Poletta, Fernando A., Mereb, Juan C., Vieira, Alexandre R., Castilla, Eduardo E., Orioli, Iêda M.
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Language:	English
Subjects:	Brazil Cleft Lip - genetics cleft lip and palate cleft palate Cleft Palate - genetics Dentistry European Continental Ancestry Group - genetics genetic ancestry Genotype Humans INDEL South American populations
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creator	Vieira-Machado, Camilla D. de Carvalho, Flavia M. Santana da Silva, Luiz C. dos Santos, Sidney E. Martins, Claudia Poletta, Fernando A. Mereb, Juan C. Vieira, Alexandre R. Castilla, Eduardo E. Orioli, Iêda M.
description	Increased susceptibility to cleft lip, with or without cleft palate (CL±P) has been observed in South America, as related to Amerindian ancestry, using epidemiological data, uniparental markers, and blood groups. In this study, it was evaluated whether this increased risk remains when Amerindian ancestry is estimated using autosomal markers and considered in the predictive model. Ancestry was estimated through genotyping 62 insertion and deletion (INDEL) markers in sample sets of patients with CL±P, patients with cleft palate (CP), and controls, from Patagonia in southern Argentina and Belém in northern Brazil. The Amerindian ancestry in patients from Patagonia with CL±P was greater than in controls although it did not reach statistical significance. The European ancestry in patients with CL±P from Belém and in patients with CP from Belém and Patagonia was higher than in controls and statistically significant for patients with CP who were from Belém. This high contribution of European genetic ancestry among patients with CP who were from Belém has not been previously observed in American populations. Our results do not corroborate the currently accepted risks for CL±P and CP estimated by epidemiological studies in the North American populations and probably reflect the higher admixture found in South American ethnic groups when compared with the same ethnic groups from the North American populations.
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In this study, it was evaluated whether this increased risk remains when Amerindian ancestry is estimated using autosomal markers and considered in the predictive model. Ancestry was estimated through genotyping 62 insertion and deletion (INDEL) markers in sample sets of patients with CL±P, patients with cleft palate (CP), and controls, from Patagonia in southern Argentina and Belém in northern Brazil. The Amerindian ancestry in patients from Patagonia with CL±P was greater than in controls although it did not reach statistical significance. The European ancestry in patients with CL±P from Belém and in patients with CP from Belém and Patagonia was higher than in controls and statistically significant for patients with CP who were from Belém. This high contribution of European genetic ancestry among patients with CP who were from Belém has not been previously observed in American populations. Our results do not corroborate the currently accepted risks for CL±P and CP estimated by epidemiological studies in the North American populations and probably reflect the higher admixture found in South American ethnic groups when compared with the same ethnic groups from the North American populations.</description><identifier>ISSN: 0909-8836</identifier><identifier>EISSN: 1600-0722</identifier><identifier>DOI: 10.1111/eos.12275</identifier><identifier>PMID: 27105611</identifier><language>eng</language><publisher>England: Blackwell Publishing Ltd</publisher><subject>Brazil ; Cleft Lip - genetics ; cleft lip and palate ; cleft palate ; Cleft Palate - genetics ; Dentistry ; European Continental Ancestry Group - genetics ; genetic ancestry ; Genotype ; Humans ; INDEL ; South American populations</subject><ispartof>European journal of oral sciences, 2016-08, Vol.124 (4), p.406-411</ispartof><rights>2016 Eur J Oral Sci</rights><rights>2016 Eur J Oral Sci.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3965-a8046186c48fdbab099755f99d7aeb3056b0ae393d2a9f2f29dd0a221822692b3</citedby><cites>FETCH-LOGICAL-c3965-a8046186c48fdbab099755f99d7aeb3056b0ae393d2a9f2f29dd0a221822692b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Feos.12275$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Feos.12275$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,786,790,27957,27958,50923,51032</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27105611$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Vieira-Machado, Camilla D.</creatorcontrib><creatorcontrib>de Carvalho, Flavia M.</creatorcontrib><creatorcontrib>Santana da Silva, Luiz C.</creatorcontrib><creatorcontrib>dos Santos, Sidney E.</creatorcontrib><creatorcontrib>Martins, Claudia</creatorcontrib><creatorcontrib>Poletta, Fernando A.</creatorcontrib><creatorcontrib>Mereb, Juan C.</creatorcontrib><creatorcontrib>Vieira, Alexandre R.</creatorcontrib><creatorcontrib>Castilla, Eduardo E.</creatorcontrib><creatorcontrib>Orioli, Iêda M.</creatorcontrib><title>Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations</title><title>European journal of oral sciences</title><addtitle>Eur J Oral Sci</addtitle><description>Increased susceptibility to cleft lip, with or without cleft palate (CL±P) has been observed in South America, as related to Amerindian ancestry, using epidemiological data, uniparental markers, and blood groups. In this study, it was evaluated whether this increased risk remains when Amerindian ancestry is estimated using autosomal markers and considered in the predictive model. Ancestry was estimated through genotyping 62 insertion and deletion (INDEL) markers in sample sets of patients with CL±P, patients with cleft palate (CP), and controls, from Patagonia in southern Argentina and Belém in northern Brazil. The Amerindian ancestry in patients from Patagonia with CL±P was greater than in controls although it did not reach statistical significance. The European ancestry in patients with CL±P from Belém and in patients with CP from Belém and Patagonia was higher than in controls and statistically significant for patients with CP who were from Belém. This high contribution of European genetic ancestry among patients with CP who were from Belém has not been previously observed in American populations. Our results do not corroborate the currently accepted risks for CL±P and CP estimated by epidemiological studies in the North American populations and probably reflect the higher admixture found in South American ethnic groups when compared with the same ethnic groups from the North American populations.</description><subject>Brazil</subject><subject>Cleft Lip - genetics</subject><subject>cleft lip and palate</subject><subject>cleft palate</subject><subject>Cleft Palate - genetics</subject><subject>Dentistry</subject><subject>European Continental Ancestry Group - genetics</subject><subject>genetic ancestry</subject><subject>Genotype</subject><subject>Humans</subject><subject>INDEL</subject><subject>South American populations</subject><issn>0909-8836</issn><issn>1600-0722</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><recordid>eNqNkc9P2zAcxa0JNArbYf_A5CM7BPyjcexjqToYqkCigx0tJ_l6eEviYCcq_e8xa-ltEr5Yevq8p6fvQ-gLJWc0vXPw8YwyVuQf0IQKQjJSMHaAJkQRlUnJxRE6jvEPIZRTVXxER6ygJBeUThDMOtNsoovYWzw8Av4NHQyuwqarIA5h86r3ZnDQDRGv3fCIfTANrhqwSbDBt3jlxyTPWgiuMh02deueoca978cmOX0XP6FDa5oIn3f_Cbr_vvg5v8qWt5c_5rNlVnEl8sxIMhVUimoqbV2akihV5LlVqi4MlDxVLokBrnjNjLLMMlXXxDBGJWNCsZKfoNNtbh_805j669bFCprGdODHqKkkUgghKXkPygpesHya0G9btAo-xgBW98G1Jmw0Jfp1AJ0G0P8GSOzXXexYtlDvybeLJ-B8C6xdA5v_J-nF7eotMts6XBzgee8w4a8WqWGuf91canV3cb28yB_0ir8Ak5Sewg</recordid><startdate>201608</startdate><enddate>201608</enddate><creator>Vieira-Machado, Camilla D.</creator><creator>de Carvalho, Flavia M.</creator><creator>Santana da Silva, Luiz C.</creator><creator>dos Santos, Sidney E.</creator><creator>Martins, Claudia</creator><creator>Poletta, Fernando A.</creator><creator>Mereb, Juan C.</creator><creator>Vieira, Alexandre R.</creator><creator>Castilla, Eduardo E.</creator><creator>Orioli, Iêda M.</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</scope><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>7X8</scope><scope>7T5</scope><scope>H94</scope></search><sort><creationdate>201608</creationdate><title>Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations</title><author>Vieira-Machado, Camilla D. ; de Carvalho, Flavia M. ; Santana da Silva, Luiz C. ; dos Santos, Sidney E. ; Martins, Claudia ; Poletta, Fernando A. ; Mereb, Juan C. ; Vieira, Alexandre R. ; Castilla, Eduardo E. ; Orioli, Iêda M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3965-a8046186c48fdbab099755f99d7aeb3056b0ae393d2a9f2f29dd0a221822692b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Brazil</topic><topic>Cleft Lip - genetics</topic><topic>cleft lip and palate</topic><topic>cleft palate</topic><topic>Cleft Palate - genetics</topic><topic>Dentistry</topic><topic>European Continental Ancestry Group - genetics</topic><topic>genetic ancestry</topic><topic>Genotype</topic><topic>Humans</topic><topic>INDEL</topic><topic>South American populations</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Vieira-Machado, Camilla D.</creatorcontrib><creatorcontrib>de Carvalho, Flavia M.</creatorcontrib><creatorcontrib>Santana da Silva, Luiz C.</creatorcontrib><creatorcontrib>dos Santos, Sidney E.</creatorcontrib><creatorcontrib>Martins, Claudia</creatorcontrib><creatorcontrib>Poletta, Fernando A.</creatorcontrib><creatorcontrib>Mereb, Juan C.</creatorcontrib><creatorcontrib>Vieira, Alexandre R.</creatorcontrib><creatorcontrib>Castilla, Eduardo E.</creatorcontrib><creatorcontrib>Orioli, Iêda M.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><jtitle>European journal of oral sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Vieira-Machado, Camilla D.</au><au>de Carvalho, Flavia M.</au><au>Santana da Silva, Luiz C.</au><au>dos Santos, Sidney E.</au><au>Martins, Claudia</au><au>Poletta, Fernando A.</au><au>Mereb, Juan C.</au><au>Vieira, Alexandre R.</au><au>Castilla, Eduardo E.</au><au>Orioli, Iêda M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations</atitle><jtitle>European journal of oral sciences</jtitle><addtitle>Eur J Oral Sci</addtitle><date>2016-08</date><risdate>2016</risdate><volume>124</volume><issue>4</issue><spage>406</spage><epage>411</epage><pages>406-411</pages><issn>0909-8836</issn><eissn>1600-0722</eissn><notes>CNPq - No. 481069/2012-7; No. 306396/2013-0; No. 400427/2013-3</notes><notes>ark:/67375/WNG-9RBJLB5V-S</notes><notes>ArticleID:EOS12275</notes><notes>Table S1. Articles found in the literature search reporting birth prevalence of oral clefts (per 1,000 births).Table S2. Frequencies of INDEL markers in cleft cases and controls and parental populations; paired FST and δ (absolute difference) frequencies among the three parental populations.</notes><notes>istex:0D68A0ED7533C0A1673F53527B23EE36B0033577</notes><notes>FAPERJ - No. E-26/102.797/2012; No. E-26/110.140/2013</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Increased susceptibility to cleft lip, with or without cleft palate (CL±P) has been observed in South America, as related to Amerindian ancestry, using epidemiological data, uniparental markers, and blood groups. In this study, it was evaluated whether this increased risk remains when Amerindian ancestry is estimated using autosomal markers and considered in the predictive model. Ancestry was estimated through genotyping 62 insertion and deletion (INDEL) markers in sample sets of patients with CL±P, patients with cleft palate (CP), and controls, from Patagonia in southern Argentina and Belém in northern Brazil. The Amerindian ancestry in patients from Patagonia with CL±P was greater than in controls although it did not reach statistical significance. The European ancestry in patients with CL±P from Belém and in patients with CP from Belém and Patagonia was higher than in controls and statistically significant for patients with CP who were from Belém. This high contribution of European genetic ancestry among patients with CP who were from Belém has not been previously observed in American populations. Our results do not corroborate the currently accepted risks for CL±P and CP estimated by epidemiological studies in the North American populations and probably reflect the higher admixture found in South American ethnic groups when compared with the same ethnic groups from the North American populations.</abstract><cop>England</cop><pub>Blackwell Publishing Ltd</pub><pmid>27105611</pmid><doi>10.1111/eos.12275</doi><tpages>6</tpages></addata></record>
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subjects	Brazil Cleft Lip - genetics cleft lip and palate cleft palate Cleft Palate - genetics Dentistry European Continental Ancestry Group - genetics genetic ancestry Genotype Humans INDEL South American populations
title	Analysis of the genetic ancestry of patients with oral clefts from South American admixed populations
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