Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy : A Meta-Analysis

Medientyp: E-Artikel
Titel: Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy : A Meta-Analysis : A Meta-Analysis
Beteiligte: Cornelis, Stéphanie S.; IntHout, Joanna; Runhart, Esmee H.; Grunewald, Olivier; Lin, Siying; Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah J.; Whelan, Laura; Farrar, G. Jane; Sharon, Dror; van den Born, L. Ingeborgh; Arno, Gavin; Simcoe, Mark; Michaelides, Michel; Webster, Andrew R.; Roosing, Susanne; Mahroo, Omar A.; Dhaenens, Claire-Marie; Cremers, Frans P. M.; AlTalbishi, Ala'a; Ayuso, Carmen; Banfi, Sandro; Banin, Eyal; [...]
Erschienen: American Medical Association (AMA), 2024
Erschienen in: JAMA Ophthalmology
Sprache: Englisch
DOI: 10.1001/jamaophthalmol.2024.0660
ISSN: 2168-6165
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Beschreibung: <jats:sec id="ab-eoi240016-4"><jats:title>Importance</jats:title><jats:p>Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an <jats:italic>ABCA4</jats:italic>-associated retinopathy.</jats:p></jats:sec><jats:sec id="ab-eoi240016-5"><jats:title>Objective</jats:title><jats:p>To investigate whether women are overrepresented among individuals with <jats:italic>ABCA4</jats:italic>-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.</jats:p></jats:sec><jats:sec id="ab-eoi240016-6"><jats:title>Data Sources</jats:title><jats:p>Literature data, data from 2 European centers, and a new study. Data from a Radboudumc database and from the Rotterdam Eye Hospital were used for exploratory hypothesis testing.</jats:p></jats:sec><jats:sec id="ab-eoi240016-7"><jats:title>Study Selection</jats:title><jats:p>Studies investigating the sex ratio in individuals with <jats:italic>ABCA4</jats:italic>-AR and data from centers that collected <jats:italic>ABCA4</jats:italic> variant and sex data. The literature search was performed on February 1, 2023; data from the centers were from before 2023.</jats:p></jats:sec><jats:sec id="ab-eoi240016-8"><jats:title>Data Extraction and Synthesis</jats:title><jats:p>Random-effects meta-analyses were conducted to test whether the proportions of women among individuals with <jats:italic>ABCA4</jats:italic>-associated retinopathy with mild and nonmild variants differed from 0.5, including subgroup analyses for mild alleles. Sensitivity analyses were performed excluding data with possibly incomplete variant identification. χ<jats:sup>2</jats:sup> Tests were conducted to compare the proportions of women in adult-onset autosomal non–<jats:italic>ABCA4</jats:italic>-associated retinopathy and adult-onset <jats:italic>ABCA4</jats:italic>-associated retinopathy and to investigate if women with suspected <jats:italic>ABCA4</jats:italic>-associated retinopathy are more likely to obtain a genetic diagnosis. Data analyses were performed from March to October 2023.</jats:p></jats:sec><jats:sec id="ab-eoi240016-9"><jats:title>Main Outcomes and Measures</jats:title><jats:p>Proportion of women per <jats:italic>ABCA4</jats:italic>-associated retinopathy group. The exploratory testing included sex ratio comparisons for individuals with <jats:italic>ABCA4-</jats:italic>associated retinopathy vs those with other autosomal retinopathies and for individuals with <jats:italic>ABCA4</jats:italic>-associated retinopathy who underwent genetic testing vs those who did not.</jats:p></jats:sec><jats:sec id="ab-eoi240016-10"><jats:title>Results</jats:title><jats:p>Women were significantly overrepresented in the mild variant group (proportion, 0.59; 95% CI, 0.56-0.62; <jats:italic>P</jats:italic> &amp;lt; .001) but not in the nonmild variant group (proportion, 0.50; 95% CI, 0.46-0.54; <jats:italic>P</jats:italic> = .89). Sensitivity analyses confirmed these results. Subgroup analyses on mild variants showed differences in the proportions of women. Furthermore, in the Radboudumc database, the proportion of adult women among individuals with <jats:italic>ABCA4</jats:italic>-associated retinopathy (652/1154 = 0.56) was 0.10 (95% CI, 0.05-0.15) higher than among individuals with other retinopathies (280/602 = 0.47).</jats:p></jats:sec><jats:sec id="ab-eoi240016-11"><jats:title>Conclusions and Relevance</jats:title><jats:p>This meta-analysis supports the likelihood that sex is a modifier in developing <jats:italic>ABCA4</jats:italic>-associated retinopathy for individuals with a mild <jats:italic>ABCA4</jats:italic> allele. This finding may be relevant for prognosis predictions and recurrence risks for individuals with <jats:italic>ABCA4</jats:italic>-associated retinopathy. Future studies should further investigate whether the overrepresentation of women is caused by differences in the disease mechanism, by differences in health care–seeking behavior, or by health care discrimination between women and men with <jats:italic>ABCA4</jats:italic>-AR.</jats:p></jats:sec>

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