Variation near complement factor I is associated with risk of advanced AMD.
A case-control association study for advanced age-related macular degeneration was conducted to explore several regions of interest identified by linkage. This analysis identified a single nucleotide polymorphism just 3' of complement factor I on chromosome 4 showing significant association (P<10(-7)). Sequencing was performed on coding exons in linkage disequilibrium with the detected association. No obvious functional variation was discovered that could be the proximate cause of the association, suggesting a noncoding regulatory mechanism.
Fagerness
Jesen A
JA
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.
Maller
Julian B
JB
Neale
Benjamin M
BM
Reynolds
Robyn C
RC
Daly
Mark J
MJ
Seddon
Johanna M
JM
D000368:Aged; D016022:Case-Control Studies; D002894:Chromosomes, Human, Pair 4; D017244:Complement Factor I / Q000235:genetics*; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D012307:Risk Factors; D017422:Sequence Analysis, DNA
C493611:CFI protein, human; D017244:Complement Factor I