{"id":14870,"date":"2026-04-03T16:00:14","date_gmt":"2026-04-03T16:00:14","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=92fe0fd1f53c64952e416e05997a03f0"},"modified":"2026-04-03T16:00:14","modified_gmt":"2026-04-03T16:00:14","slug":"expanded-carrier-screening-in-a-southwestern-chinese-population-indicates-east-asian-specific-low-frequency-pathogenic-variants-account-for-nearly-half-of-the-at-risk-couple-rate","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/04\/03\/expanded-carrier-screening-in-a-southwestern-chinese-population-indicates-east-asian-specific-low-frequency-pathogenic-variants-account-for-nearly-half-of-the-at-risk-couple-rate\/","title":{"rendered":"Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate"},"content":{"rendered":"<sec><st>Background<\/st><p>The optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese population to guide panel design.<\/p><\/sec><sec><st>Methods<\/st><p>Using a 334-gene expanded CS panel, we screened 3748 individuals from Sichuan, China. Pathogenic\/likely pathogenic (P\/LP) variants were classified by allele frequency and geographic specificity.<\/p><\/sec><sec><st>Results<\/st><p>Overall, 65.55% of participants carried at least one P\/LP variant. We identified 83 at-risk couples (ACR 5.19%), including 55 couples at risk for autosomal recessive (AR) disorders. We catalogued 1372 P\/LP variants for AR conditions. Notably, 46 variants were classified as low frequency (minor allele frequency &ge;0.1%). Among these 46 low-frequency variants, 54% (25\/46) were identified as East Asian-specific. Strikingly, these 25 East Asian-specific variants contributed 41.8% (23\/55) to the AR at-risk couples, whereas 11 globally shared alleles contributed only 9.1%. Three regionally enriched variants in <I>HBB<\/I>, <I>GJB2<\/I> and <I>SLC25A13<\/I> alone contributed 20% to the AR ACR.<\/p><\/sec><sec><st>Conclusion<\/st><p>East Asian-specific low-frequency variants significantly contribute to the carrier burden in this population, accounting for nearly half of the AR risk. These findings provide empirical evidence that CS panels should prioritise population-specific carrier frequencies over global data to maximise clinical utility in regions with specific ethnic compositions.<\/p><\/sec>","protected":false},"excerpt":{"rendered":"<p>BackgroundThe optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese population to guide panel design.MethodsUsing a 334-gen&#8230;<\/p>\n","protected":false},"author":545,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,8,9],"tags":[],"class_list":["post-14870","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg-first","category-open-access"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14870","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/545"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=14870"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14870\/revisions"}],"predecessor-version":[{"id":14871,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/14870\/revisions\/14871"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=14870"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=14870"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=14870"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}