Mitchell B D, Kammerer C M, O'Connell P, Harrison C R, Manire M, Shipman P, Moyer M P, Stern M P, Frazier M L
Department of Genetics, Southwest Foundation for Biomedical Research, University of Texas Health Science Center, San Antonio, USA.
Diabetes. 1995 Sep;44(9):1046-53. doi: 10.2337/diab.44.9.1046.
Single genes with large effects may contribute to insulin resistance or influence susceptibility to non-insulin-dependent diabetes mellitus (NIDDM). In the Pima Indians, results from sib-pair analysis have suggested that a gene on chromosome 4q influences both fasting insulin levels and maximal insulin action. We conducted sib-pair and logarithm of odds (LOD)-score linkage analysis to seek evidence for linkage between genes influencing insulin levels and chromosome 4q loci. Analyses were conducted on nondiabetic individuals from 28 different families participating in the San Antonio Family Diabetes Study. All subjects received a 2-h oral glucose tolerance test. Fasting insulin levels were measured in 382 nondiabetic individuals, and 2-h insulin levels were measured in 366 individuals. Initial sib-pair linkage analysis revealed a possible association between 2-h post-glucose challenge insulin levels and the intestinal fatty acid-binding protein (FABP2) locus located in the region of chromosome 4q28-31 (P = 0.006). Subsequent sib-pair linkage analysis of 11 additional chromosome 4q markers supported this hypothesis. We next conducted segregation analyses to estimate allele frequencies and other model parameters for the putative locus influencing 2-h insulin levels. Results of LOD-score linkage analysis indicated possible linkage between the major gene described by the segregation model and FABP2. Using combined segregation and linkage analysis, we obtained a LOD-score of 2.80 at recombination frequency of 0.0 between FABP2 and the putative locus influencing 2-h insulin levels. The maximum likelihood estimate of the allele associated with low insulin levels was 0.21.(ABSTRACT TRUNCATED AT 250 WORDS)
具有显著效应的单个基因可能导致胰岛素抵抗或影响非胰岛素依赖型糖尿病(NIDDM)的易感性。在皮马印第安人中,同胞对分析结果表明,4号染色体q臂上的一个基因影响空腹胰岛素水平和最大胰岛素作用。我们进行了同胞对和对数优势(LOD)分数连锁分析,以寻找影响胰岛素水平的基因与4号染色体q位点之间连锁的证据。对参与圣安东尼奥家族糖尿病研究的28个不同家族的非糖尿病个体进行了分析。所有受试者都接受了2小时口服葡萄糖耐量试验。在382名非糖尿病个体中测量了空腹胰岛素水平,在366名个体中测量了2小时胰岛素水平。最初的同胞对连锁分析显示,葡萄糖激发后2小时的胰岛素水平与位于4号染色体q28 - 31区域的肠脂肪酸结合蛋白(FABP2)位点之间可能存在关联(P = 0.006)。随后对另外11个4号染色体q标记进行的同胞对连锁分析支持了这一假设。接下来我们进行了分离分析,以估计影响2小时胰岛素水平的假定位点的等位基因频率和其他模型参数。LOD分数连锁分析结果表明,分离模型描述的主要基因与FABP2之间可能存在连锁。使用联合分离和连锁分析,我们在FABP2与影响2小时胰岛素水平的假定位点之间的重组频率为0.0时获得了2.80的LOD分数。与低胰岛素水平相关的等位基因的最大似然估计值为0.21。(摘要截短于250字)