{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T14:34:08Z","timestamp":1771511648255,"version":"3.50.1"},"reference-count":11,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Lifestyle Genomics"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background\/Aims:&lt;\/i&gt;&lt;\/b&gt; Polymorphisms in the enhancer of the lactase gene (&lt;i&gt;LCT&lt;\/i&gt;) are strongly associated with lactase persistence, but not always predictive of the phenotype. We investigated a possible association between the regulatory &lt;i&gt;rs140433552&lt;\/i&gt;*&lt;i&gt;CA&amp;#x3e;del&lt;\/i&gt; variant of &lt;i&gt;LCT&lt;\/i&gt; and lactose intolerance (LI). &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; We genotyped 122 individuals for rs140433552 and rs4988235 (&lt;i&gt;\u201313910&lt;\/i&gt;*&lt;i&gt;C&amp;#x3e;T&lt;\/i&gt;). &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Associations of &lt;i&gt;rs140433552&lt;\/i&gt;*&lt;i&gt;CA&amp;#x3e;del&lt;\/i&gt; with LI depend on &lt;i&gt;\u201313910&lt;\/i&gt;*&lt;i&gt;C&amp;#x3e;T&lt;\/i&gt;. Homozygous individuals for the &lt;i&gt;C-CA&lt;\/i&gt; haplotype, as well as &lt;i&gt;C-CA+\/C&lt;\/i&gt; individuals, seem more likely to manifest LI (OR 3.33 [95% CI 1.32\u20138.35], &lt;i&gt;p&lt;\/i&gt; = 0.011, and OR 3.93 [95% CI 1.61\u20139.61], &lt;i&gt;p&lt;\/i&gt; = 0.003, respectively), while homozygous individuals for the &lt;i&gt;T-CA&lt;\/i&gt; haplotype seem more likely to be lactose tolerant (OR 0.04 [95% CI 0.002\u20130.70], &lt;i&gt;p&lt;\/i&gt; = 8 \u00d7 10&lt;sup&gt;\u20134&lt;\/sup&gt;). &lt;b&gt;&lt;i&gt;Conclusions:&lt;\/i&gt;&lt;\/b&gt; &lt;i&gt;rs140433552&lt;\/i&gt;*&lt;i&gt;CA&amp;#x3e;del&lt;\/i&gt; is not independently associated with LI. <\/jats:p>","DOI":"10.1159\/000508509","type":"journal-article","created":{"date-parts":[[2020,7,13]],"date-time":"2020-07-13T21:00:46Z","timestamp":1594674046000},"page":"129-133","source":"Crossref","is-referenced-by-count":1,"title":["Lack of Association between &lt;b&gt;&lt;i&gt;LCT_rs140433552&lt;\/i&gt;&lt;\/b&gt;*&lt;b&gt;&lt;i&gt;CA&amp;#x3e;del&lt;\/i&gt;&lt;\/b&gt; Indel Polymorphism and Lactose Intolerance in a Southern Brazilian Population"],"prefix":"10.1159","volume":"13","author":[{"given":"Luana\u00a0Caroline","family":"Oliveira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrey\u00a0Lucas","family":"Dias\u00a0Barros","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelica\u00a0Beate\u00a0Winter","family":"Boldt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Adelman\u00a0Cipolla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,7,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0593-6"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genet.37.110801.143820"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2148-10-36"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ng826"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi418"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-23957-4"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.01.002"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0808830105"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.4161\/cc.7.7.5666"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159\/000440807"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/nature15394"}],"container-title":["Lifestyle Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/508509","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/508509","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:11:26Z","timestamp":1745424686000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000508509"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,7,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000508509","archive":["Portico"],"relation":{},"ISSN":["2504-3161","2504-3188"],"issn-type":[{"value":"2504-3161","type":"print"},{"value":"2504-3188","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020]]}}}