POLYMORPHISMS OF THE HUMAN HEXOKINASE-II GENE - LACK OF ASSOCIATION WITH NIDDM AND INSULIN-RESISTANCE
POLYMORPHISMS OF THE HUMAN HEXOKINASE-II GENE - LACK OF ASSOCIATION WITH NIDDM AND INSULIN-RESISTANCE
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DOI：
10.1007/bf00400733
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发表时间：
1995-05-01
期刊：
影响因子：
8.2
通讯作者：
DEEB, SS
中科院分区：
文献类型：
--
作者：
LAAKSO, M;MALKKI, M;DEEB, SS
骨骼肌和脂肪组织己糖激酶II是非胰岛素依赖型糖尿病（NIDDM）和胰岛素抵抗的一个有希望的候选基因。因此，我们研究了110名芬兰糖尿病NIDDM患者和97名糖耐量正常且糖尿病家族史阴性的芬兰对照受试者中该基因4个多态性位点的等位基因与NIDDM和胰岛素抵抗的关系。己糖激酶II基因编码区的4个多态性核苷酸替换（沉默）分别为：GAC 251 GAT（外显子7），AAC 692 AAT和CCG 734 CCC（外显子15），CTG 766 CTA（外显子16）。这些多态性的等位基因频率在NIDDM患者和对照组之间没有差异。此外，四种多态性中每一种多态性中频率较低的等位基因纯合的受试者具有相似程度的胰岛素抵抗，这是由血糖钳技术确定的，与对照组和NIDDM患者中常见等位基因纯合的受试者相同。总之，在芬兰人群中，己糖激酶II基因多态性与NIDDM或胰岛素抵抗的风险无关。
Skeletal muscle and adipose tissue hexokinase II is a promising candidate gene for non-insulin-dependent diabetes mellitus (NIDDM) and insulin resistance. Therefore, we investigated the association of alleles at four polymorphic loci in this gene with NIDDM and insulin resistance in 110 Finnish diabetic patients with NIDDM and in 97 Finnish control subjects with normal glucose tolerance and a negative family history of diabetes. The four polymorphic nucleotide substitutions (silent) in the coding region of the hexokinase II gene were: GAC 251 GAT (exon 7), AAC 692 AAT and CCG 734 CCC (exon 15), and CTG 766 CTA (exon 16). Allele frequencies of each of these polymorphisms did not differ between patients with NIDDM and control subjects. In addition, subjects who were homozygous for the less frequent allele of each of the four polymorphisms had a similar degree of insulin resistance, as determined by the euglycaemic clamp technique, as did the subjects who were homozygous for the common allele in both control subjects and in patients with NIDDM. In conclusion, polymorphisms in the hexokinase II gene are not associated with the risk of NIDDM or insulin resistance in the Finnish population.