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Multiple DNA variant association analysis: application to the insulin gene region in type 1 diabetes

Multiple DNA variant association analysis: application to the insulin gene region in type 1 diabetes
Multiple DNA variant association analysis: application to the insulin gene region in type 1 diabetes
Association and linkage studies have shown that at least
one of the genetic factors involved in susceptibility to insulin-
dependent diabetes mellitus (IDDM) is contained
within a 4.1-kb region of the insulin gene. Sequence analysis
has led to the identification of 10 DNA variants in this
region that are associated with increased risk for IDDM.
These variants are in strong linkage disequilibrium with
each other, and previous studies have failed to distinguish
between the variant(s) that cause increased susceptibility
to IDDM and others that are associated with the disease
because of linkage disequilibrium. To address this problem,
we have undertaken a large population study of
French diabetics and controls and have analyzed genotype
patterns for several of the variant sites simultaneously.
This has led to the identification of a subset consisting of
four variants (-2733AC, -23HphI, -365VNTR, and
+1140AC), at least one of which appears to be directly
implicated in disease susceptibility. The multiple-DNAvariant
association-analysis approach that is applied here
to the problem of identifying potential susceptibility variants
in IDDM is likely to be important in studies of many
other multifactorial diseases.
0002-9297
1247-1254
Julier, C.
fbaefd22-ad8b-4a5d-889c-5dcbd7d54124
Lucassen, A.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Villedieu, P.
894b39c1-d91f-4289-af3b-650b34faef2b
Delepine, M.
cb653ebd-a060-4227-9ca0-614bec454959
Levy-Marchal, C.
bf48449e-2a29-4677-8540-42dc0824b3fc
Danzé, P.M.
54da50a0-6cc7-4b51-a9a0-36089326b1eb
Bianchi, F.
ab6ec74e-34ec-40be-9f5d-6d377b5eb577
Boitard, C.
984a704c-f7aa-4cb3-83cc-96912eb00efa
Froguel, P.
2ab6afe2-f300-42bc-b2cc-ca12a5d40005
Bell, J.
765e3911-6b16-4e68-93af-e24e36bf032d
Lathrop, G. M.
d7e6fda7-3812-4977-864c-282c3f5bf87d
Julier, C.
fbaefd22-ad8b-4a5d-889c-5dcbd7d54124
Lucassen, A.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Villedieu, P.
894b39c1-d91f-4289-af3b-650b34faef2b
Delepine, M.
cb653ebd-a060-4227-9ca0-614bec454959
Levy-Marchal, C.
bf48449e-2a29-4677-8540-42dc0824b3fc
Danzé, P.M.
54da50a0-6cc7-4b51-a9a0-36089326b1eb
Bianchi, F.
ab6ec74e-34ec-40be-9f5d-6d377b5eb577
Boitard, C.
984a704c-f7aa-4cb3-83cc-96912eb00efa
Froguel, P.
2ab6afe2-f300-42bc-b2cc-ca12a5d40005
Bell, J.
765e3911-6b16-4e68-93af-e24e36bf032d
Lathrop, G. M.
d7e6fda7-3812-4977-864c-282c3f5bf87d

Julier, C., Lucassen, A., Villedieu, P., Delepine, M., Levy-Marchal, C., Danzé, P.M., Bianchi, F., Boitard, C., Froguel, P., Bell, J. and Lathrop, G. M. (1994) Multiple DNA variant association analysis: application to the insulin gene region in type 1 diabetes. The American Journal of Human Genetics, 55 (6), 1247-1254. (PMID:7977386)

Record type: Article

Abstract

Association and linkage studies have shown that at least
one of the genetic factors involved in susceptibility to insulin-
dependent diabetes mellitus (IDDM) is contained
within a 4.1-kb region of the insulin gene. Sequence analysis
has led to the identification of 10 DNA variants in this
region that are associated with increased risk for IDDM.
These variants are in strong linkage disequilibrium with
each other, and previous studies have failed to distinguish
between the variant(s) that cause increased susceptibility
to IDDM and others that are associated with the disease
because of linkage disequilibrium. To address this problem,
we have undertaken a large population study of
French diabetics and controls and have analyzed genotype
patterns for several of the variant sites simultaneously.
This has led to the identification of a subset consisting of
four variants (-2733AC, -23HphI, -365VNTR, and
+1140AC), at least one of which appears to be directly
implicated in disease susceptibility. The multiple-DNAvariant
association-analysis approach that is applied here
to the problem of identifying potential susceptibility variants
in IDDM is likely to be important in studies of many
other multifactorial diseases.

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Published date: December 1994

Identifiers

Local EPrints ID: 182457
URI: http://eprints.soton.ac.uk/id/eprint/182457
ISSN: 0002-9297
PURE UUID: 95100bc5-0221-454a-bbc9-a6bcad21f114
ORCID for A. Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 12 May 2011 14:59
Last modified: 23 Jul 2022 01:49

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Contributors

Author: C. Julier
Author: A. Lucassen ORCID iD
Author: P. Villedieu
Author: M. Delepine
Author: C. Levy-Marchal
Author: P.M. Danzé
Author: F. Bianchi
Author: C. Boitard
Author: P. Froguel
Author: J. Bell
Author: G. M. Lathrop

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