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Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease

Published online by Cambridge University Press:  01 May 1999

M. GIORDANO ,
E. BOLOGNESI ,
S. D'ALFONSO ,
M. LESSI ,
P. ZAVATTARI ,
G. ODERDA ,
F. CLOT ,
S. PERCOPO ,
G. CASARI  and
L. GRECO
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M. GIORDANO
Affiliation:
Dipartimento di Scienze Mediche, Cattedra di Genetica Umana, Università del Piemonte Orientale ‘Amedeo Avogadro’, Novara, Italy
E. BOLOGNESI
Affiliation:
Dipartimento di Scienze Mediche, Cattedra di Genetica Umana, Università del Piemonte Orientale ‘Amedeo Avogadro’, Novara, Italy
S. D'ALFONSO
Affiliation:
Dipartimento di Scienze Mediche, Cattedra di Genetica Umana, Università del Piemonte Orientale ‘Amedeo Avogadro’, Novara, Italy
M. LESSI
Affiliation:
Dipartimento di Scienze Mediche, Cattedra di Genetica Umana, Università del Piemonte Orientale ‘Amedeo Avogadro’, Novara, Italy
P. ZAVATTARI
Affiliation:
Dipartimento di Scienze Mediche, Cattedra di Genetica Umana, Università del Piemonte Orientale ‘Amedeo Avogadro’, Novara, Italy
G. ODERDA
Affiliation:
Dipartimento di Scienze Mediche, Cattedra di Pediatria, Università del Piemonte Orientale ‘Amedeo Avogadro’ Novara, Italy
F. CLOT
Affiliation:
Laboratoire de Cytogénétique et Génétique Moléculaire Humaine, Université de Versailles, Versailles, France
S. PERCOPO
Affiliation:
Dipartimento di Pediatria, Università Federico II, Napoli, Italy
G. CASARI
Affiliation:
Tigem, Milano, Italy
L. GRECO
Affiliation:
Dipartimento di Pediatria, Università Federico II, Napoli, Italy
R. TOSI
Affiliation:
Istituto di Biologia Cellulare, CNR, Roma, Italy
P. MOMIGLIANO-RICHIARDI
Affiliation:
Dipartimento di Scienze Mediche, Cattedra di Genetica Umana, Università del Piemonte Orientale ‘Amedeo Avogadro’, Novara, Italy
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Abstract

Coeliac disease (CD) is a multigenic and multifactorial enteropathy triggered by gluten-composing proteins. A possible involvement of the intestinal Aminopeptidase N (APN) was investigated by an association analysis. SSCP analysis detected four variants at position 281, 378, 956 and 2957 (referred to no. g178535, GenBank) that were studied in 193 Italian CD families. The haplotypic combinations were determined from family segregation and pairwise linkage disequilibria (D′ = D/Dmax) between the polymorphic sites were calculated. Significant D′ values ranged between 0.78 and 0.31. Association with CD was tested by TDT (Transmission Disequilibrium Test) utilizing as markers the nucleotide substitutions and their haplotypic combinations. No statistically significant transmission distortion to the probands or to their clinically silent sibs was observed. Our data exclude an involvement in CD of the tested markers and of further undetected variation in strong linkage disequilibrium (D′ ≅ 1) with them. The power of the test was not adequate to detect an association with an unknown polymorphism which is not in complete linkage disequilibrium with those analysed.

Type
Research Article
Information
Annals of Human Genetics , Volume 63 , Issue 3 , May 1999 , pp. 207 - 215
Copyright
© University College London 1999

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