Manuel Mattheisen

Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci

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Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci. / Pinto, Dalila; Kasteleijn-Nolst Trenité, Dorothée G A; Cordell, Heather J; Mattheisen, Manuel; Strauch, Konstantin; Lindhout, Dick; Koeleman, Bobby P C.

In: Genetic Epidemiology, Vol. 31, No. 1, 01.2007, p. 42-50.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Pinto, D, Kasteleijn-Nolst Trenité, DGA, Cordell, HJ, Mattheisen, M, Strauch, K, Lindhout, D & Koeleman, BPC 2007, 'Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci', Genetic Epidemiology, vol. 31, no. 1, pp. 42-50. https://doi.org/10.1002/gepi.20190

APA

Pinto, D., Kasteleijn-Nolst Trenité, D. G. A., Cordell, H. J., Mattheisen, M., Strauch, K., Lindhout, D., & Koeleman, B. P. C. (2007). Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci. Genetic Epidemiology, 31(1), 42-50. https://doi.org/10.1002/gepi.20190

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MLA

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Author

Pinto, Dalila ; Kasteleijn-Nolst Trenité, Dorothée G A ; Cordell, Heather J ; Mattheisen, Manuel ; Strauch, Konstantin ; Lindhout, Dick ; Koeleman, Bobby P C. / Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci. In: Genetic Epidemiology. 2007 ; Vol. 31, No. 1. pp. 42-50.

Bibtex

@article{a192d3e0928a48e09d38f4b98cb84329,
title = "Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci",
abstract = "In traits suspected to be governed by at least two loci, linkage analysis incorporating the joint action of both loci may improve the power to detect linkage, increase the precision of estimating locus positions and provide insight into the underlying etiological mechanism. Recently, we mapped two susceptibility loci for epilepsy-related photosensitivity (or photoparoxysmal response, PPR) at regions 7q32 (PPR1) and 16p13 (PPR2) in PPR families with prominent myoclonic seizures background (MS-related PPR). To follow-up these results and evaluate interaction effects between these regions, we conducted two-locus (2L) linkage analyses using parametric and non-parametric methods. The 2L linkage was calculated under a multiplicative (MULT) epistasis model, encompassing models where each locus is necessary but not sufficient for MS-related PPR and a heterogeneity (HET) model, encompassing models in which each locus is by itself sufficient but not necessary for MS-related PPR expression. We found maximal 2L linkage under the (MULT) model, which was significantly better than the 2L linkage under the (HET) model (P = 0.001). The 2L analyses gave no increase in power to detect linkage over the single-locus analyses nor did they improve location estimates at PPR1 and PPR2, as expected under a best-fit 2L (MULT) model in an affecteds-only analysis. Our findings suggest that the genes underlying the PPR1 and PPR2 susceptibility loci may have similar functions or act in the same biochemical pathway.",
keywords = "Chromosome Mapping, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 7, Epilepsies, Myoclonic, Epilepsy, Reflex, Female, Genetic Linkage, Genetic Predisposition to Disease, Humans, Male, Penetrance, Quantitative Trait Loci",
author = "Dalila Pinto and {Kasteleijn-Nolst Trenit{\'e}}, {Doroth{\'e}e G A} and Cordell, {Heather J} and Manuel Mattheisen and Konstantin Strauch and Dick Lindhout and Koeleman, {Bobby P C}",
year = "2007",
month = jan,
doi = "10.1002/gepi.20190",
language = "English",
volume = "31",
pages = "42--50",
journal = "Genetic Epidemiology",
issn = "0741-0395",
publisher = "JohnWiley & Sons, Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci

AU - Pinto, Dalila

AU - Kasteleijn-Nolst Trenité, Dorothée G A

AU - Cordell, Heather J

AU - Mattheisen, Manuel

AU - Strauch, Konstantin

AU - Lindhout, Dick

AU - Koeleman, Bobby P C

PY - 2007/1

Y1 - 2007/1

N2 - In traits suspected to be governed by at least two loci, linkage analysis incorporating the joint action of both loci may improve the power to detect linkage, increase the precision of estimating locus positions and provide insight into the underlying etiological mechanism. Recently, we mapped two susceptibility loci for epilepsy-related photosensitivity (or photoparoxysmal response, PPR) at regions 7q32 (PPR1) and 16p13 (PPR2) in PPR families with prominent myoclonic seizures background (MS-related PPR). To follow-up these results and evaluate interaction effects between these regions, we conducted two-locus (2L) linkage analyses using parametric and non-parametric methods. The 2L linkage was calculated under a multiplicative (MULT) epistasis model, encompassing models where each locus is necessary but not sufficient for MS-related PPR and a heterogeneity (HET) model, encompassing models in which each locus is by itself sufficient but not necessary for MS-related PPR expression. We found maximal 2L linkage under the (MULT) model, which was significantly better than the 2L linkage under the (HET) model (P = 0.001). The 2L analyses gave no increase in power to detect linkage over the single-locus analyses nor did they improve location estimates at PPR1 and PPR2, as expected under a best-fit 2L (MULT) model in an affecteds-only analysis. Our findings suggest that the genes underlying the PPR1 and PPR2 susceptibility loci may have similar functions or act in the same biochemical pathway.

AB - In traits suspected to be governed by at least two loci, linkage analysis incorporating the joint action of both loci may improve the power to detect linkage, increase the precision of estimating locus positions and provide insight into the underlying etiological mechanism. Recently, we mapped two susceptibility loci for epilepsy-related photosensitivity (or photoparoxysmal response, PPR) at regions 7q32 (PPR1) and 16p13 (PPR2) in PPR families with prominent myoclonic seizures background (MS-related PPR). To follow-up these results and evaluate interaction effects between these regions, we conducted two-locus (2L) linkage analyses using parametric and non-parametric methods. The 2L linkage was calculated under a multiplicative (MULT) epistasis model, encompassing models where each locus is necessary but not sufficient for MS-related PPR and a heterogeneity (HET) model, encompassing models in which each locus is by itself sufficient but not necessary for MS-related PPR expression. We found maximal 2L linkage under the (MULT) model, which was significantly better than the 2L linkage under the (HET) model (P = 0.001). The 2L analyses gave no increase in power to detect linkage over the single-locus analyses nor did they improve location estimates at PPR1 and PPR2, as expected under a best-fit 2L (MULT) model in an affecteds-only analysis. Our findings suggest that the genes underlying the PPR1 and PPR2 susceptibility loci may have similar functions or act in the same biochemical pathway.

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 16

KW - Chromosomes, Human, Pair 7

KW - Epilepsies, Myoclonic

KW - Epilepsy, Reflex

KW - Female

KW - Genetic Linkage

KW - Genetic Predisposition to Disease

KW - Humans

KW - Male

KW - Penetrance

KW - Quantitative Trait Loci

U2 - 10.1002/gepi.20190

DO - 10.1002/gepi.20190

M3 - Journal article

C2 - 17123300

VL - 31

SP - 42

EP - 50

JO - Genetic Epidemiology

JF - Genetic Epidemiology

SN - 0741-0395

IS - 1

ER -