Susceptibility to leprosy is associated with PARK2 and PACRG
Identifieur interne : 000267 ( France/Analysis ); précédent : 000266; suivant : 000268Susceptibility to leprosy is associated with PARK2 and PACRG
Auteurs : Marcelo T. Mira [Canada, Brésil, France, Viêt Nam, Pays-Bas] ; Alexandre Alcaïs ; NGUYEN VAN THUC ; Milton O. Moraes ; Celestino Di Flumeri ; VU HONG THAI ; MAL CHI PHUONG ; NGUYEN THU HUONG ; NGUYEN NGOC BA ; PHAM XUAN KHOA ; Euzenir N. Sarno ; Andrea Alter ; Alexandre Montpetit ; Marla E. Moraes ; José R. Moraes ; Carole Dore ; Caroline J. Dallant ; Pierre Lepage ; Andrel Verner ; Esther Van De Vosse ; Thomas J. Hudson ; Laurent Abel ; Erwin SchurrSource :
- Nature : (London) [ 0028-0836 ] ; 2004.
Descripteurs français
- Pascal (Inist)
- Lèpre, Prédisposition, Homme, Gène.
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
Abstract
Leprosy is caused by Mycobacterium leprae and affects about 700,000 individuals each year'. It has long been thought that leprosy has a strong genetic component2, and recently we mapped a leprosy susceptibility locus to chromosome 6 region q25-q26 (ref. 3). Here we investigate this region further by using a systematic association scan of the chromosomal interval most likely to harbour this leprosy susceptibility locus. In 197 Vietnamese families we found a significant association between leprosy I and 17 markers located in a block of approx. 80 kilobases overlapping the 5' regulatory region shared by the Parkinson's disease gene PARK2 and the co-regulated gene PACRG. Possession of as few as two of the 17 risk alleles was highly predictive of leprosy. This was confirmed in a sample of 975 unrelated leprosy cases and controls from Brazil in whom the same alleles were strongly associated with leprosy. Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy.
Affiliations:
- Brésil, Canada, France, Pays-Bas, Viêt Nam
- Québec, État de Rio de Janeiro, Île-de-France
- Montréal, Paris
- Université McGill
Links toward previous steps (curation, corpus...)
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- to stream PascalFrancis, to step Curation: 000327
- to stream PascalFrancis, to step Checkpoint: 000840
- to stream Main, to step Merge: 003062
- to stream Main, to step Curation: 002C99
- to stream Main, to step Exploration: 002C99
- to stream France, to step Extraction: 000267
Links to Exploration step
Pascal:04-0337837Le document en format XML
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Mira</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>McGill Centre for the Study of Host Résistance and Departments of Human Genetics, Medicine and Biochemistry, McGill University, 1650 Cedar Avenue</s1><s2>Montreal, PQ H3G 1A4</s2><s3>CAN</s3></inist:fA14><country>Canada</country><wicri:noRegion>Montreal, PQ H3G 1A4</wicri:noRegion><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Centro de Ciências Biológicas e da Saúde, Pontificia Universidade Católica do Paraná. Rua Imaculada Conceição, 1155</s1><s2>CEP 80215-901, Curitiba, Paraná</s2><s3>BRA</s3></inist:fA14><country>Brésil</country><wicri:noRegion>CEP 80215-901, Curitiba, Paraná</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Laboratoire de Génétique Humaine des Maladies Infectieuses, INSERM U.550, Faculté de Médecine Necker, Université de Paris René Descartes, 156 rue de Vaugirard</s1><s2>75015 Paris</s2><s3>FRA</s3></inist:fA14><country>France</country><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Hospital for Dermato-Venereology, Nguyen Thong Street, District 3, Ho Chi Minh City</s1><s3>VNM</s3></inist:fA14><country>Viêt Nam</country><wicri:noRegion>Hospital for Dermato-Venereology, Nguyen Thong Street, District 3, Ho Chi Minh City</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Leprosy Laboratory, Tropical Medicine Department Oswaldo Cruz Institute, FIOCRUZ 20221-903 Rio de Janeiro</s1><s3>BRA</s3></inist:fA14><country>Brésil</country><wicri:noRegion>Leprosy Laboratory, Tropical Medicine Department Oswaldo Cruz Institute, FIOCRUZ 20221-903 Rio de Janeiro</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>McGill University and Genome Québec Innovation Centre, 740 Docteur Penfield</s1><s2>Montreal, PQ H3A 1A4</s2><s3>CAN</s3></inist:fA14><country>Canada</country><wicri:noRegion>Montreal, PQ H3A 1A4</wicri:noRegion></affiliation><affiliation wicri:level="2"><inist:fA14 i1="07"><s1>Laboratório de Imunogénetica, Instituto Nacional do Cancer, Ministério da</s1><s2>Saúde, 20230-130 Rio de Janeiro, RJ</s2><s3>BRA</s3></inist:fA14><country>Brésil</country><placeName><region type="state">État de Rio de Janeiro</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Infections Diseases & Department of Immunohematology and Blood Transfusion, Leiden University Médical Center, Building 1, Albinusdreef 2</s1><s2>2333 ZA Leiden</s2><s3>NLD</s3></inist:fA14><country>Pays-Bas</country><wicri:noRegion>2333 ZA Leiden</wicri:noRegion></affiliation></author><author><name sortKey="Alcais, Alexandre" sort="Alcais, Alexandre" uniqKey="Alcais A" first="Alexandre" last="Alcaïs">Alexandre Alcaïs</name></author><author><name sortKey="Nguyen Van Thuc" sort="Nguyen Van Thuc" uniqKey="Nguyen Van Thuc" last="Nguyen Van Thuc">NGUYEN VAN THUC</name></author><author><name sortKey="Moraes, Milton O" sort="Moraes, Milton O" uniqKey="Moraes M" first="Milton O." last="Moraes">Milton O. Moraes</name></author><author><name sortKey="Di Flumeri, Celestino" sort="Di Flumeri, Celestino" uniqKey="Di Flumeri C" first="Celestino" last="Di Flumeri">Celestino Di Flumeri</name></author><author><name sortKey="Vu Hong Thai" sort="Vu Hong Thai" uniqKey="Vu Hong Thai" last="Vu Hong Thai">VU HONG THAI</name></author><author><name sortKey="Mal Chi Phuong" sort="Mal Chi Phuong" uniqKey="Mal Chi Phuong" last="Mal Chi Phuong">MAL CHI PHUONG</name></author><author><name sortKey="Nguyen Thu Huong" sort="Nguyen Thu Huong" uniqKey="Nguyen Thu Huong" last="Nguyen Thu Huong">NGUYEN THU HUONG</name></author><author><name sortKey="Nguyen Ngoc Ba" sort="Nguyen Ngoc Ba" uniqKey="Nguyen Ngoc Ba" last="Nguyen Ngoc Ba">NGUYEN NGOC BA</name></author><author><name sortKey="Pham Xuan Khoa" sort="Pham Xuan Khoa" uniqKey="Pham Xuan Khoa" last="Pham Xuan Khoa">PHAM XUAN KHOA</name></author><author><name sortKey="Sarno, Euzenir N" sort="Sarno, Euzenir N" uniqKey="Sarno E" first="Euzenir N." last="Sarno">Euzenir N. Sarno</name></author><author><name sortKey="Alter, Andrea" sort="Alter, Andrea" uniqKey="Alter A" first="Andrea" last="Alter">Andrea Alter</name></author><author><name sortKey="Montpetit, Alexandre" sort="Montpetit, Alexandre" uniqKey="Montpetit A" first="Alexandre" last="Montpetit">Alexandre Montpetit</name></author><author><name sortKey="Moraes, Marla E" sort="Moraes, Marla E" uniqKey="Moraes M" first="Marla E." last="Moraes">Marla E. Moraes</name></author><author><name sortKey="Moraes, Jose R" sort="Moraes, Jose R" uniqKey="Moraes J" first="José R." last="Moraes">José R. Moraes</name></author><author><name sortKey="Dore, Carole" sort="Dore, Carole" uniqKey="Dore C" first="Carole" last="Dore">Carole Dore</name></author><author><name sortKey="Dallant, Caroline J" sort="Dallant, Caroline J" uniqKey="Dallant C" first="Caroline J." last="Dallant">Caroline J. Dallant</name></author><author><name sortKey="Lepage, Pierre" sort="Lepage, Pierre" uniqKey="Lepage P" first="Pierre" last="Lepage">Pierre Lepage</name></author><author><name sortKey="Verner, Andrel" sort="Verner, Andrel" uniqKey="Verner A" first="Andrel" last="Verner">Andrel Verner</name></author><author><name sortKey="Van De Vosse, Esther" sort="Van De Vosse, Esther" uniqKey="Van De Vosse E" first="Esther" last="Van De Vosse">Esther Van De Vosse</name></author><author><name sortKey="Hudson, Thomas J" sort="Hudson, Thomas J" uniqKey="Hudson T" first="Thomas J." last="Hudson">Thomas J. Hudson</name></author><author><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name></author><author><name sortKey="Schurr, Erwin" sort="Schurr, Erwin" uniqKey="Schurr E" first="Erwin" last="Schurr">Erwin Schurr</name></author></analytic><series><title level="j" type="main">Nature : (London)</title><title level="j" type="abbreviated">Nature : (Lond.)</title><idno type="ISSN">0028-0836</idno><imprint><date when="2004">2004</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Nature : (London)</title><title level="j" type="abbreviated">Nature : (Lond.)</title><idno type="ISSN">0028-0836</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene</term><term>Human</term><term>Leprosy</term><term>Predisposition</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Lèpre</term><term>Prédisposition</term><term>Homme</term><term>Gène</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Leprosy is caused by Mycobacterium leprae and affects about 700,000 individuals each year'. It has long been thought that leprosy has a strong genetic component<sup>2</sup>, and recently we mapped a leprosy susceptibility locus to chromosome 6 region q25-q26 (ref. 3). Here we investigate this region further by using a systematic association scan of the chromosomal interval most likely to harbour this leprosy susceptibility locus. In 197 Vietnamese families we found a significant association between leprosy I and 17 markers located in a block of approx. 80 kilobases overlapping the 5' regulatory region shared by the Parkinson's disease gene PARK2 and the co-regulated gene PACRG. Possession of as few as two of the 17 risk alleles was highly predictive of leprosy. This was confirmed in a sample of 975 unrelated leprosy cases and controls from Brazil in whom the same alleles were strongly associated with leprosy. Variants in the regulatory region shared by PARK2 and PACRG therefore act as common risk factors for leprosy.</div></front></TEI><affiliations><list><country><li>Brésil</li><li>Canada</li><li>France</li><li>Pays-Bas</li><li>Viêt Nam</li></country><region><li>Québec</li><li>État de Rio de Janeiro</li><li>Île-de-France</li></region><settlement><li>Montréal</li><li>Paris</li></settlement><orgName><li>Université McGill</li></orgName></list><tree><noCountry><name sortKey="Abel, Laurent" sort="Abel, Laurent" uniqKey="Abel L" first="Laurent" last="Abel">Laurent Abel</name><name sortKey="Alcais, Alexandre" sort="Alcais, Alexandre" uniqKey="Alcais A" first="Alexandre" last="Alcaïs">Alexandre Alcaïs</name><name sortKey="Alter, Andrea" sort="Alter, Andrea" uniqKey="Alter A" first="Andrea" last="Alter">Andrea Alter</name><name sortKey="Dallant, Caroline J" sort="Dallant, Caroline J" uniqKey="Dallant C" first="Caroline J." last="Dallant">Caroline J. Dallant</name><name sortKey="Di Flumeri, Celestino" sort="Di Flumeri, Celestino" uniqKey="Di Flumeri C" first="Celestino" last="Di Flumeri">Celestino Di Flumeri</name><name sortKey="Dore, Carole" sort="Dore, Carole" uniqKey="Dore C" first="Carole" last="Dore">Carole Dore</name><name sortKey="Hudson, Thomas J" sort="Hudson, Thomas J" uniqKey="Hudson T" first="Thomas J." last="Hudson">Thomas J. Hudson</name><name sortKey="Lepage, Pierre" sort="Lepage, Pierre" uniqKey="Lepage P" first="Pierre" last="Lepage">Pierre Lepage</name><name sortKey="Mal Chi Phuong" sort="Mal Chi Phuong" uniqKey="Mal Chi Phuong" last="Mal Chi Phuong">MAL CHI PHUONG</name><name sortKey="Montpetit, Alexandre" sort="Montpetit, Alexandre" uniqKey="Montpetit A" first="Alexandre" last="Montpetit">Alexandre Montpetit</name><name sortKey="Moraes, Jose R" sort="Moraes, Jose R" uniqKey="Moraes J" first="José R." last="Moraes">José R. Moraes</name><name sortKey="Moraes, Marla E" sort="Moraes, Marla E" uniqKey="Moraes M" first="Marla E." last="Moraes">Marla E. Moraes</name><name sortKey="Moraes, Milton O" sort="Moraes, Milton O" uniqKey="Moraes M" first="Milton O." last="Moraes">Milton O. Moraes</name><name sortKey="Nguyen Ngoc Ba" sort="Nguyen Ngoc Ba" uniqKey="Nguyen Ngoc Ba" last="Nguyen Ngoc Ba">NGUYEN NGOC BA</name><name sortKey="Nguyen Thu Huong" sort="Nguyen Thu Huong" uniqKey="Nguyen Thu Huong" last="Nguyen Thu Huong">NGUYEN THU HUONG</name><name sortKey="Nguyen Van Thuc" sort="Nguyen Van Thuc" uniqKey="Nguyen Van Thuc" last="Nguyen Van Thuc">NGUYEN VAN THUC</name><name sortKey="Pham Xuan Khoa" sort="Pham Xuan Khoa" uniqKey="Pham Xuan Khoa" last="Pham Xuan Khoa">PHAM XUAN KHOA</name><name sortKey="Sarno, Euzenir N" sort="Sarno, Euzenir N" uniqKey="Sarno E" first="Euzenir N." last="Sarno">Euzenir N. Sarno</name><name sortKey="Schurr, Erwin" sort="Schurr, Erwin" uniqKey="Schurr E" first="Erwin" last="Schurr">Erwin Schurr</name><name sortKey="Van De Vosse, Esther" sort="Van De Vosse, Esther" uniqKey="Van De Vosse E" first="Esther" last="Van De Vosse">Esther Van De Vosse</name><name sortKey="Verner, Andrel" sort="Verner, Andrel" uniqKey="Verner A" first="Andrel" last="Verner">Andrel Verner</name><name sortKey="Vu Hong Thai" sort="Vu Hong Thai" uniqKey="Vu Hong Thai" last="Vu Hong Thai">VU HONG THAI</name></noCountry><country name="Canada"><region name="Québec"><name sortKey="Mira, Marcelo T" sort="Mira, Marcelo T" uniqKey="Mira M" first="Marcelo T." last="Mira">Marcelo T. Mira</name></region><name sortKey="Mira, Marcelo T" sort="Mira, Marcelo T" uniqKey="Mira M" first="Marcelo T." last="Mira">Marcelo T. Mira</name></country><country name="Brésil"><noRegion><name sortKey="Mira, Marcelo T" sort="Mira, Marcelo T" uniqKey="Mira M" first="Marcelo T." last="Mira">Marcelo T. Mira</name></noRegion><name sortKey="Mira, Marcelo T" sort="Mira, Marcelo T" uniqKey="Mira M" first="Marcelo T." last="Mira">Marcelo T. Mira</name><name sortKey="Mira, Marcelo T" sort="Mira, Marcelo T" uniqKey="Mira M" first="Marcelo T." last="Mira">Marcelo T. Mira</name></country><country name="France"><region name="Île-de-France"><name sortKey="Mira, Marcelo T" sort="Mira, Marcelo T" uniqKey="Mira M" first="Marcelo T." last="Mira">Marcelo T. Mira</name></region></country><country name="Viêt Nam"><noRegion><name sortKey="Mira, Marcelo T" sort="Mira, Marcelo T" uniqKey="Mira M" first="Marcelo T." last="Mira">Marcelo T. Mira</name></noRegion></country><country name="Pays-Bas"><noRegion><name sortKey="Mira, Marcelo T" sort="Mira, Marcelo T" uniqKey="Mira M" first="Marcelo T." last="Mira">Marcelo T. Mira</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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