| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common/normal
|
| (A;T)
|
6.4
|
Greatly reduced risk (~25 fold) for exfoliation syndrome
|
| (T;T)
|
6.4
|
Greatly reduced risk (~25 fold) for exfoliation syndrome
|
rs201011613, also known as Y407F, p.Phe407 and p.Tyr407Phe, is a very rare variant in the LOXL1 gene on chromosome 15. The minor allele is reported to have been seen (at least so far) exclusively in the Japanese population.
A large study published in 2017 involving deep resequencing of the entire LOXL1 and CACNA1A genes in 5,570 patients with exfoliation syndrome (XFS) plus 6,279 controls concluded that the rare rs201011613(T) allele provided strong protection against the development of XFS (OR ~25, p = 2.9 × 10e-14).[PMID 28553957
]
]
