PMID- 17123300
OWN - NLM
STAT- MEDLINE
DCOM- 20070316
LR  - 20101118
IS  - 0741-0395 (Print)
IS  - 0741-0395 (Linking)
VI  - 31
IP  - 1
DP  - 2007 Jan
TI  - Explorative two-locus linkage analysis suggests a multiplicative interaction 
      between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci.
PG  - 42-50
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.
FAU - Pinto, Dalila
AU  - Pinto D
AD  - Complex Genetics Section, DBG-Department of Medical Genetics, University Medical 
      Center Utrecht, Utrecht, The Netherlands.
FAU - Kasteleijn-Nolst Trenite, Dorothee G A
AU  - Kasteleijn-Nolst Trenite DG
FAU - Cordell, Heather J
AU  - Cordell HJ
FAU - Mattheisen, Manuel
AU  - Mattheisen M
FAU - Strauch, Konstantin
AU  - Strauch K
FAU - Lindhout, Dick
AU  - Lindhout D
FAU - Koeleman, Bobby P C
AU  - Koeleman BP
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Epidemiol
JT  - Genetic epidemiology
JID - 8411723
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 16/*genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Epilepsies, Myoclonic/*genetics
MH  - Epilepsy, Reflex/*genetics
MH  - Female
MH  - *Genetic Linkage
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Male
MH  - Penetrance
MH  - Quantitative Trait Loci
EDAT- 2006/11/24 09:00
MHDA- 2007/03/17 09:00
CRDT- 2006/11/24 09:00
PHST- 2006/11/24 09:00 [pubmed]
PHST- 2007/03/17 09:00 [medline]
PHST- 2006/11/24 09:00 [entrez]
AID - 10.1002/gepi.20190 [doi]
PST - ppublish
SO  - Genet Epidemiol. 2007 Jan;31(1):42-50. doi: 10.1002/gepi.20190.