{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T03:56:10Z","timestamp":1769745370258,"version":"3.49.0"},"reference-count":48,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>\n              Autosomal dominant hypercholesterolemia (ADH), characterized by elevated plasma levels of low-density lipoprotein (LDL)-cholesterol, is caused by variants in at least 3 different genes: LDL receptor (\n              <jats:italic>LDLR<\/jats:italic>\n              ), apolipoprotein B-100, and proprotein convertase subtilisin-like kexin type 9. There is paucity of data about the molecular basis of ADH among ethnic groups other than those of European or Japanese descent. Here, we examined the molecular basis of ADH in a multiethnic patient cohort from lipid clinics in a large, urban US city.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              A total of 38 men and 53 women, aged 22 to 76 years, met modified Simon-Broome criteria for ADH and were screened for mutations in the exons and consensus splice sites of\n              <jats:italic>LDLR<\/jats:italic>\n              , and in selected exons of apolipoprotein B-100 and proprotein convertase subtilisin-like kexin type 9. Deletions and duplications of\n              <jats:italic>LDLR<\/jats:italic>\n              exons were detected with multiplex ligation-dependent probe amplification. Heterozygous variants in\n              <jats:italic>LDLR<\/jats:italic>\n              were identified in 30 patients and in apolipoprotein B-100 in 1 patient. The remaining 60 patients (65%) had unexplained ADH. A higher proportion of blacks (77%) than either non-Hispanic whites (57%) or Hispanics (53%) had unexplained ADH. Compared with patients with\n              <jats:italic>LDLR<\/jats:italic>\n              variants, those with unexplained ADH had lower levels of LDL-cholesterol (292\u00b147 mg\/dL versus 239\u00b142 mg\/dL, respectively;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.0001) and higher levels of high-density lipoprotein cholesterol (45\u00b112 mg\/dL versus 54\u00b113 mg\/dL, respectively;\n              <jats:italic>P<\/jats:italic>\n              =0.003).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>Our findings suggest that additional loci may contribute to ADH, especially in understudied populations such as blacks.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.112.963587","type":"journal-article","created":{"date-parts":[[2012,10,13]],"date-time":"2012-10-13T01:30:53Z","timestamp":1350091853000},"page":"666-675","source":"Crossref","is-referenced-by-count":49,"title":["Low Prevalence of Mutations in Known Loci for Autosomal Dominant Hypercholesterolemia in a Multiethnic Patient Cohort"],"prefix":"10.1161","volume":"5","author":[{"given":"Zahid","family":"Ahmad","sequence":"first","affiliation":[{"name":"From the Division of Nutrition and Metabolic Diseases, Center for Human Nutrition (Z.A., A.G.), Department of Clinical Sciences (B.A.-H.), Department of Molecular Genetics (C.C.), and Department of Internal Medicine (Z.A., B.A.-H., C.C., A.G.), UT Southwestern Medical Center, Dallas, TX."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverley","family":"Adams-Huet","sequence":"additional","affiliation":[{"name":"From the Division of Nutrition and Metabolic Diseases, Center for Human Nutrition (Z.A., A.G.), Department of Clinical Sciences (B.A.-H.), Department of Molecular Genetics (C.C.), and Department of Internal Medicine (Z.A., B.A.-H., C.C., A.G.), UT Southwestern Medical Center, Dallas, TX."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiyuan","family":"Chen","sequence":"additional","affiliation":[{"name":"From the Division of Nutrition and Metabolic Diseases, Center for Human Nutrition (Z.A., A.G.), Department of Clinical Sciences (B.A.-H.), Department of Molecular Genetics (C.C.), and Department of Internal Medicine (Z.A., B.A.-H., C.C., A.G.), UT Southwestern Medical Center, Dallas, TX."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abhimanyu","family":"Garg","sequence":"additional","affiliation":[{"name":"From the Division of Nutrition and Metabolic Diseases, Center for Human Nutrition (Z.A., A.G.), Department of Clinical Sciences (B.A.-H.), Department of Molecular Genetics (C.C.), and Department of Internal Medicine (Z.A., B.A.-H., C.C., A.G.), UT Southwestern Medical Center, Dallas, TX."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.192666"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199304223281603"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200318925"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature09270"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0275"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2006.12.008"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01356.x"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.atherosclerosis.2010.07.012"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF03195716"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2006.10.77"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01351.x"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21348"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2008.06.056"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.110.979450"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.atherosclerosis.2008.07.005"},{"key":"e_1_3_4_17_2","first-page":"943","article-title":"Familial hypercholesterolaemia: a common genetic disorder in the Afrikaans population.","volume":"57","author":"Jenkins T","year":"1980","unstructured":"Jenkins T, Nicholls E, Gordon E, Mendelsohn D, Seftel HC, Andrew MJ. 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