ABCMdb

PMID: 11346403

Gorin MB
The ABCA4 gene and age-related macular degeneration: innocence or guilt by association.
Arch Ophthalmol. 2001 May;119(5):752-3., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCA4 p.Gly1961Glu The family studies conducted with grandparents of patients with Stargardt disease have been criticized for ascertainment bias and/or inadequate statistical power.7,11 However, studies that claim that the presence of a particular ABCA4 variant in a family member who lacks any evidence of ARMD dis- proves a disease association are also limited by a lack of statistical power and an inability to estimate the extent that incomplete penetrance may play a role in ARMD.6 Guymer and coauthors illustrate this issue clearly in their reporting of the G1961E allele in unaffected family members with ARMD, and they accurately present their findings within the correct genetic context that considers incomplete penetrance. Login to comment 16 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu The high prevalence of the G1961E allele in the healthy individuals of Somali ancestry and the range of G1961E allele frequencies observed between the US and Swiss patients illustrate the need to constantly consider this problem. Login to comment 18 ABCA4 p.Gly1961Glu The high prevalence of the G1961E allele in the healthy Somali population tends to minimize the argument that this allele is disease causing because there is no reported high incidence of either ARMD or Stargardt See also page 745 EDITORIAL (REPRINTED) ARCH OPHTHALMOL/VOL 119, MAY 2001 WWW.ARCHOPHTHALMOL.COM (c)2001 American Medical Association. All rights reserved. Login to comment 22 ABCA4 p.Gly1961Glu Yet other investigators have found no particular association of the G1961E allele with either exudative or atrophic ARMD.8 In the study by Allikmets, the classification of the patients was based on photographs in accordance with the International Classification System,16 which is designed to grade types and severity of ARMD-related disease but does not distinguish ARMD from other conditions. Login to comment 23 ABCA4 p.Gly1961Glu Yet other investigators have found no particular association of the G1961E allele with either exudative or atrophic ARMD.8 In the study by Allikmets, the classification of the patients was based on photographs in accordance with the International Classification System,16 which is designed to grade types and severity of ARMD-related disease but does not distinguish ARMD from other conditions. Login to comment