{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T13:03:31Z","timestamp":1784811811415,"version":"3.55.0"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T00:00:00Z","timestamp":1630540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T00:00:00Z","timestamp":1630540800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["bpspubs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pharmacology Res &amp;amp; Perspec"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Lysosomal acid lipase deficiency (LAL\u2010D) is an autosomal recessive disease characterized by hypoalphalipoproteinemia, mixed hyperlipemia, and fatty liver (FL) due to mutations in\n                    <jats:italic>LIPA<\/jats:italic>\n                    se A, lysosomal acid type (\n                    <jats:italic>LIPA<\/jats:italic>\n                    ) gene. The rs1051338\u00a0single\u2010nucleotide polymorphism (SNP) in\n                    <jats:italic>LIPA<\/jats:italic>\n                    gene, in vitro, could adversely affect the LAL activity (LAL\u2010A). Nonalcoholic fatty liver disease (NAFLD) is often associated with metabolic syndrome, and the diagnosis requires the exclusion of excess of alcohol intake and other causes of hepatic disease. The aim of the study was to evaluate the impact of rs1051338 rare allele on lipid phenotype, severity of FL, and LAL\u2010A in patients suffering from dyslipidemia associated with NAFLD. We selected 74\u00a0subjects with hypoalphalipoproteinemia or mixed hyperlipemia and evaluated transaminases, liver assessment with controlled attenuation parameter (CAP), LAL\u2010A, rs1051338 SNP genotype. The presence of rare allele caused higher levels of triglycerides and hepatic transaminase and lower levels of high\u2010density lipoprotein cholesterol (HDL\u2010C). Multivariate analysis highlighted independent association between rare allele and FL severity in subjects with NAFLD. The rs1051338 SNP may modulate FL severity and atherogenic dyslipidemia in patients suffering from NAFLD.\n                  <\/jats:p>","DOI":"10.1002\/prp2.820","type":"journal-article","created":{"date-parts":[[2021,9,3]],"date-time":"2021-09-03T02:57:36Z","timestamp":1630637856000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single\u2010center observational study"],"prefix":"10.1002","volume":"9","author":[{"given":"Andrea","family":"Pasta","sequence":"first","affiliation":[{"name":"Department of Internal Medicine University of Genoa Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Borro","sequence":"additional","affiliation":[{"name":"Gastroenterology Unit Department of Internal Medicine IRCCS Ospedale Policlinico San Martino University of Genoa 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