{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T08:53:06Z","timestamp":1793782386869,"version":"4.6.1"},"reference-count":45,"publisher":"American Medical Association (AMA)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Psychiatry"],"published-print":{"date-parts":[[2024,7,1]]},"abstract":"<jats:sec id=\"ab-yoi240013-4\">\n                    <jats:title>Importance<\/jats:title>\n                    <jats:p>Autism spectrum disorder (ASD) is a neurodevelopmental disorder more prevalent in males than in females. The cause of ASD is largely genetic, but the association of genetics with the skewed sex ratio is not yet understood. To our knowledge, no large population-based study has provided estimates of heritability by sex.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240013-5\">\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To estimate the sex-specific heritability of ASD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240013-6\">\n                    <jats:title>Design, Setting, and Participants<\/jats:title>\n                    <jats:p>This was a population-based, retrospective analysis using national health registers of nontwin siblings and cousins from Sweden born between January 1, 1985, and December 31, 1998, with follow-up to 19 years of age. Data analysis occurred from August 2022 to November 2023.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240013-7\">\n                    <jats:title>Main Outcomes and Measures<\/jats:title>\n                    <jats:p>Models were fitted to estimate the relative variance in risk for ASD occurrence owing to sex-specific additive genetics, shared environmental effects, and a common residual term. The residual term conceptually captured other factors that promote individual behavioral variation (eg, maternal effects, de novo variants, rare genetic variants not additively inherited, or gene-environment interactions). Estimates were adjusted for differences in prevalence due to birth year and maternal and paternal age by sex.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240013-8\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The sample included 1\u202f047\u202f649 individuals in 456\u202f832 families (538\u202f283 males [51.38%]; 509\u202f366 females [48.62%]). Within the entire sample, 12\u202f226 (1.17%) received a diagnosis of ASD, comprising 8128 (1.51%) males and 4098 (0.80%) females. ASD heritability was estimated at 87.0% (95% CI, 81.4%-92.6%) for males and 75.7% (95% CI, 68.4%-83.1%) for females with a difference in heritability estimated at 11.3% (95% CI, 1.0%-21.6%). There was no support for shared environmental contributions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"ab-yoi240013-9\">\n                    <jats:title>Conclusions and Relevance<\/jats:title>\n                    <jats:p>These findings suggest that the degree of phenotypic variation attributable to genetic differences (heritability) differs between males and females, indicating that some of the underlying causes of the condition may differ between the 2 sexes. The skewed sex ratio in ASD may be partly explained by differences in genetic variance between the sexes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1001\/jamapsychiatry.2024.0525","type":"journal-article","created":{"date-parts":[[2024,4,17]],"date-time":"2024-04-17T11:09:10Z","timestamp":1713352150000},"page":"673","source":"Crossref","is-referenced-by-count":48,"title":["Examining Sex Differences in Autism Heritability"],"prefix":"10.1001","volume":"81","author":[{"given":"Sven","family":"Sandin","sequence":"first","affiliation":[{"name":"Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden"},{"name":"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York"},{"name":"Seaver Autism Center for Research and Treatment at Mount Sinai, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin H. 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