{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T05:00:11Z","timestamp":1787029211690,"version":"build-2736575974"},"reference-count":43,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2026,8,16]],"date-time":"2026-08-16T00:00:00Z","timestamp":1786838400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>Background: Interindividual variability in intestinal cholesterol absorption contributes to differences in serum lipid concentrations and cardiovascular risk. Total cholesterol (TC)-standardized campesterol and sitosterol levels are established markers of cholesterol absorption. However, genetic variants in Europeans associated with these markers remain incompletely characterized. Methods: A genome-wide association study (GWAS) was performed in 398 healthy individuals of European ancestry. Samples were genotyped using the Precision Medicine Research Array (PMRA). After quality control, 166,037 common genetic variants with a minor allele frequency (MAF) &gt; 20% were analyzed. Associations between genetic variants and intestinal cholesterol absorption markers (campesterol\/TC and sitosterol\/TC) were evaluated using additive and recessive genetic models. Results: A total of 16 SNPs were identified. Eight SNPs overlapped with both campesterol\/TC and sitosterol\/TC, of which 2 reached genome-wide significance. Six overlapping SNPs were associated with higher concentrations of both markers: 3 SNPs in ABCG8 (rs4299376, rs6544713, and rs4245791), 1 SNP in ADAM12 (rs4962526), and 2 SNPs in non-coding regions (rs260769 and rs5011112). Additionally, two SNPs (rs2033254 and rs12708980) in CETP were associated with lower concentrations of these markers. Five of the identified SNPs have not previously been linked to markers of intestinal cholesterol absorption. Conclusions: This GWAS confirmed previously reported associations within ABCG8 and identified candidate loci in CETP and ADAM12 that may be involved in intestinal cholesterol absorption. These findings contribute to our understanding of genetic factors underlying intestinal cholesterol absorption and highlight candidate loci for future replication and functional studies.<\/jats:p>","DOI":"10.3390\/nu18162679","type":"journal-article","created":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T10:04:36Z","timestamp":1786961076000},"page":"2679","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genome-Wide Association of Genetic Variants with Intestinal Cholesterol Absorption Markers in a European Population"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1860-6057","authenticated-orcid":false,"given":"Fatma B. A.","family":"Mokhtar","sequence":"first","affiliation":[{"name":"Department of Nutrition and Movement Sciences, NUTRIM Institute of Nutrition and Translational Research in Metabolism, Maastricht University, 6200 MD Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2547-4248","authenticated-orcid":false,"given":"Dena A.","family":"Nuwaylati","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Movement Sciences, NUTRIM Institute of Nutrition and Translational Research in Metabolism, Maastricht University, 6200 MD Maastricht, The Netherlands"},{"name":"Division of Clinical Biochemistry, Department of Basic Medical Sciences, College of Medicine, University of Jeddah, Jeddah 23890, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1570-9608","authenticated-orcid":false,"given":"Jogchum","family":"Plat","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Movement Sciences, NUTRIM Institute of Nutrition and Translational Research in Metabolism, Maastricht University, 6200 MD Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1224-9690","authenticated-orcid":false,"given":"Susan L. M.","family":"Coort","sequence":"additional","affiliation":[{"name":"Department of Translational Genomics, NUTRIM Institute of Nutrition and Translational Research in Metabolism, Maastricht University, 6200 MD Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0286-1966","authenticated-orcid":false,"given":"Herman E.","family":"Popeijus","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Movement Sciences, NUTRIM Institute of Nutrition and Translational Research in Metabolism, Maastricht University, 6200 MD Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0663-7275","authenticated-orcid":false,"given":"Marcus E.","family":"Kleber","sequence":"additional","affiliation":[{"name":"Department of Medicine I (Cardiology, Hemostaseology, Medical Intensive Care), Medical Faculty Mannheim, Heidelberg University, 68167 Mannheim, Germany"},{"name":"SYNLAB MVZ Humangenetik Mannheim, 68163 Mannheim, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7941-8308","authenticated-orcid":false,"given":"Dieter","family":"L\u00fctjohann","sequence":"additional","affiliation":[{"name":"Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Venusberg-Campus 1, 53127 Bonn, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8908-3580","authenticated-orcid":false,"given":"Ronald P.","family":"Mensink","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Movement Sciences, NUTRIM Institute of Nutrition and Translational Research in Metabolism, Maastricht University, 6200 MD Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.1016\/S0022-2275(20)31508-X","article-title":"Genetic factors at the enterocyte level account for variations inintestinal cholesterol absorption efficiency among inbred strains of mice1","volume":"42","author":"Wang","year":"2001","journal-title":"J. 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