Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects.
Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects.
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DOI：
10.1186/1471-2350-7-62
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发表时间：
2006-07-25
影响因子：
--
通讯作者：
Silver KD
中科院分区：
文献类型：
--
作者：
Elbein SC;Wang X;Karim MA;Chu WS;Silver KD
Betacellulin 是表皮生长因子家族的成员，主要在胰腺中表达水平最高，并被认为参与胰岛新生和再生。据报道，非同义编码变异与非裔美国受试者的 2 型糖尿病有关。我们测试了以下假设：这些先前发现的变异与阿肯色州确定的非裔美国人的 2 型糖尿病有关，并且它们改变了耐葡萄糖的非裔美国人受试者的胰岛素分泌。我们在 188 名对照受试者和 364 名 2 型糖尿病受试者中分型了三种变异，即外显子 1 Cys7Gly (C7G)、外显子 2 Leu44Phe (L44F) 和外显子 4 Leu124Met (L124M)。我们测试了 107 名接受静脉葡萄糖耐量测试的受试者的胰岛素分泌变化，以评估胰岛素敏感性和胰岛素分泌。没有变异与 2 型糖尿病相关，也没有变异改变胰岛素分泌或胰岛素敏感性。然而，所有 3 个变体均观察到对血脂的影响，并且变体 L124M 与肥胖指标相关。我们无法确认 betacellulin 的非同义变体在 2 型糖尿病或胰岛素分泌受损倾向中的作用。
Betacellulin is a member of the epidermal growth factor family, expressed at the highest levels predominantly in the pancreas and thought to be involved in islet neogenesis and regeneration. Nonsynonymous coding variants were reported to be associated with type 2 diabetes in African American subjects. We tested the hypotheses that these previously identified variants were associated with type 2 diabetes in African Americans ascertained in Arkansas and that they altered insulin secretion in glucose tolerant African American subjects. We typed three variants, exon1 Cys7Gly (C7G), exon 2 Leu44Phe (L44F), and exon 4 Leu124Met (L124M), in 188 control subjects and 364 subjects with type 2 diabetes. We tested for altered insulin secretion in 107 subjects who had undergone intravenous glucose tolerance tests to assess insulin sensitivity and insulin secretion. No variant was associated with type 2 diabetes, and no variant altered insulin secretion or insulin sensitivity. However, an effect on lipids was observed for all 3 variants, and variant L124M was associated with obesity measures. We were unable to confirm a role for nonsynonymous variants of betacellulin in the propensity to type 2 diabetes or to impaired insulin secretion.
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