Genome-wide scan of exfoliation syndrome.
OBJECTIVE
Exfoliation syndrome (XFS) is an age-related ocular condition that is characterized by the accumulation of fibrillogranular extracellular material in intra- and extraocular tissues. The purpose of the present study was to identify the genetic basis of XFS in a large Finnish family.


METHODS
A genome-wide scan with 1000 microsatellite markers was performed in an extended family from an island in the southwestern Finnish archipelago where XFS demonstrates an autosomal dominant mode of inheritance with incomplete penetrance. Two-point linkage analyses were performed with MLINK and multipoint linkage, using the Vitesse program.


RESULTS
Five chromosomal regions with markers showing two-point LOD scores more than 1.5 was identified by using a dominant mode of inheritance for the XFS trait. The most promising locus was assigned to 18q12.1-21.33 with a maximum two-point LOD score of 3.45 and a multipoint LOD score of 4.2. Some evidence of linkage was obtained at chromosomes 2q, 17p, and 19q, which were suggested in earlier reports to be possible regions of linkage to primary open-angle glaucoma (POAG).


CONCLUSIONS
The study presented herein offers a starting point to unravel the molecular background of XFS.
Lemmelä
Susanna
S
Department of Medical Genetics, University of Helsinki, Helsinki, Finland. susanna.lemmela@helsinki.fi
Forsman
Eva
E
Sistonen
Pertti
P
Eriksson
Aldur
A
Forsius
Henrik
H
Järvelä
Irma
I
D000368:Aged; D000369:Aged, 80 and over; D018797:Cell Cycle Proteins; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D017889:Exfoliation Syndrome / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005387:Finland; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D005902:Glaucoma, Open-Angle / Q000235:genetics; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D026901:Membrane Transport Proteins; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D035582:Transcription Factor TFIIIA / Q000235:genetics; D000099179:Myocilin
D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human