{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T03:51:01Z","timestamp":1770695461647,"version":"3.49.0"},"reference-count":20,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Fetal haemoglobin (HbF) level modifies the clinical severity of <jats:italic>HBB<\/jats:italic> disorders. Intergenic variants of <jats:italic>HBS1L-MYB<\/jats:italic> on chromosome 6q23 have recently been shown to be a major quantitative trait locus (QTL) influencing HbF levels in normal Caucasian adults.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>A unique and well-characterised cohort of 238 Chinese subjects with \u03b2-thalassaemia trait was used to conduct a single-nucleotide polymorphism (SNP) association study for HbF level.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Within this locus, 29 trait-associated SNPs in a non-coding 56 kb segment were identified. They were divided into five linkage disequilibrium (LD) blocks in the Chinese participants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>The data independently validate for the first time the significance of the <jats:italic>HBS1L-MYB<\/jats:italic> intergenic region in regulating HbF expression in a separate ethnic group that has a high prevalence of \u03b2-thalassaemia. Functional studies to unravel the biological significance of this region in regulating HbF production is clearly indicated, which may lead to new strategies to modify the disease course of severe <jats:italic>HBB<\/jats:italic> disorders.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.060335","type":"journal-article","created":{"date-parts":[[2008,8,12]],"date-time":"2008-08-12T22:54:07Z","timestamp":1218581647000},"page":"745-751","source":"Crossref","is-referenced-by-count":37,"title":["The <i>HBS1L-MYB<\/i> intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of \u03b2-thalassaemia"],"prefix":"10.1136","volume":"45","author":[{"given":"C-C","family":"So","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y-Q","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S 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