Geller Frank, Dempfle Astrid, Görg Tilman
Institute of Medical Biometry and Epidemiology, Philipps-University of Marburg, Bunsenstrasse 3, Marburg, 35037 Germany.
BMC Genet. 2003 Dec 31;4 Suppl 1(Suppl 1):S91. doi: 10.1186/1471-2156-4-S1-S91.
Body mass index (BMI) and adult height are moderately and highly heritable traits, respectively. To investigate the genetic background of these quantitative phenotypes, we performed a linkage genome scan in the extended pedigrees of the Framingham Heart Study. Two variance-components approaches (SOLAR and MERLIN-VC) and one regression method (MERLIN-REGRESS) were applied to the data.
Evidence for linkage to BMI was found on chromosomes 16 and 6 with maximum LOD scores of 3.2 and 2.7, respectively. For height, all markers showing a LOD score greater than 1 in our analysis correspond to previously reported linkage regions, including chromosome 6q with a maximum LOD score of 2.45 and chromosomes 9, 12, 14, 18, and 22. Regarding the analysis, the three applied methods gave very similar results in this unselected sample with approximately normally distributed traits.
Our analysis resulted in the successful identification of linked regions. In particular, we consider the regions on chromosomes 6 and 16 for BMI and the regions on chromosomes 6, 9, and 12 for stature interesting for fine mapping and candidate gene studies.
体重指数（BMI）和成人身高分别是具有中等和高度遗传力的性状。为了研究这些数量性状的遗传背景，我们在弗雷明汉心脏研究的扩展家系中进行了连锁基因组扫描。两种方差成分法（SOLAR和MERLIN-VC）和一种回归方法（MERLIN-REGRESS）被应用于这些数据。
在16号和6号染色体上发现了与BMI连锁的证据，最大对数优势分数（LOD）分别为3.2和2.7。对于身高，在我们的分析中所有显示LOD分数大于1的标记都对应于先前报道的连锁区域，包括最大LOD分数为2.45的6号染色体长臂以及9号、12号、14号、18号和22号染色体。关于分析，在这个具有近似正态分布性状的未选择样本中，三种应用方法给出了非常相似的结果。
我们的分析成功地鉴定出了连锁区域。特别是，我们认为6号和16号染色体上与BMI相关的区域以及6号、9号和12号染色体上与身高相关的区域对于精细定位和候选基因研究很有意义。
