{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T20:57:01Z","timestamp":1697662621451},"reference-count":25,"publisher":"American Diabetes Association","issue":"4","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2005,4,1]]},"abstract":"<jats:p>In vitro and in vivo studies suggest a role for betacellulin in islet neogenesis and regeneration. Since abnormalities in \u03b2-cell function play a role in the development of type 2 diabetes, a mutation in the betacellulin gene could potentially contribute to the development of type 2 diabetes. Using RT-PCR, we initially determined that betacellulin was expressed in 9- to 24-week-old human fetal pancreas. We then screened the betacellulin gene for mutations in subjects with type 2 diabetes and identified seven polymorphisms in segments encompassing the 5\u2032 untranslated region (G-233C, A-226G), exon 1 (T\u0305GC19G\u0305GC, Cys7Gly), exon 2 (C\u0305TC130T\u0305TC, Leu44Phe), exon 4 (T\u0305TG370A\u0305TG, Leu124Met), intron 2 (T-31C), and intron 4 (C-4T). These polymorphisms were genotyped in an expanded set of diabetic case and control subjects. Among African Americans (n = 334), the frequency of the Gly7 allele in exon 1 was 31.9% in diabetic case subjects compared with 45.1% in nondiabetic control subjects (P = 0.0004). Allele frequencies for the other polymorphisms did not differ significantly between African-American case and control subjects. Additionally, there were no significant differences in allele frequencies between case and control subjects among the Caucasian sample (n = 426) for any of the seven polymorphisms, including the Gly7 variant. Further studies will be needed to understand the different roles that betacellulin polymorphisms play in susceptibility to type 2 diabetes in Caucasians and African Americans.<\/jats:p>","DOI":"10.2337\/diabetes.54.4.1179","type":"journal-article","created":{"date-parts":[[2007,3,6]],"date-time":"2007-03-06T19:04:22Z","timestamp":1173207862000},"page":"1179-1184","update-policy":"http:\/\/dx.doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":12,"title":["The Exon 1 Cys7Gly Polymorphism Within the Betacellulin Gene Is Associated With Type 2 Diabetes in African Americans"],"prefix":"10.2337","volume":"54","author":[{"given":"Kristi","family":"Silver","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Tolea","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toni I.","family":"Pollin","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flora","family":"Yao","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Braxton D.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Nutrition, University of Maryland School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1167","reference":[{"key":"2022031209465735300_R1","doi-asserted-by":"crossref","unstructured":"Pinkas-Kramarski R, Lenferink AE, Bacus SS, Lyass L, van de Poll ML, Klapper LN, Tzahar E, Sela M, van Zoelen EJ, Yarden Y: The oncogenic ErbB-2\/ErbB-3 heterodimer is a surrogate receptor of the epidermal growth factor and betacellulin. 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