肥胖症被称为异质性和多因素疾病。体内脂肪的分布对于代谢并发症的发展至关重要。对不同脂肪组织的综合遗传分析很少见,但需要提供更详细的信息。因此,我们使用高分辨率全基因组SNP阵列对三名肥胖患者进行了遗传分析(血液,内脏脂肪组织)和荧光原位杂交(FISH)分析(内脏和皮下脂肪组织)。总之,我们确定了31个小拷贝数变异(损失:1p31.1,1p22.2,1q21.3,2q34,2q37.1,3q28,6p25.3,7q31.33,7q33,8p23.3,10q22.3,11p15.4,11p15.1,11p14.2,11p12,13q12.3,15q1q1cp21,15q1对于染色体区域15q11.2-q13.1,我们在一名患者中检测到微缺失(Prader-Willi综合征)。有趣的是,我们确定了EDTA血液和内脏脂肪组织之间的染色体SNP差异(缺失和增加).仅在脂肪组织中而在血液中检测到7q31.33、7q33、11p14.2、11p12、13q12.3的小损失以及7q34的小增加。此外,对7q31.33、7q33和11p12的FISH分析显示皮下和内脏脂肪组织之间存在差异。一般来说,在内脏脂肪组织中检测到更频繁的缺失。主要检测到cn-LOH与CNV提示这些cn-LOH在肥胖发病机制中的意义。我们得出的结论是,使用的SNP阵列和FISH分析适用于为困难细胞亚群的基础研究生成更多信息(例如,内脏脂肪组织),并可能在肥胖领域开辟新的诊断方面。总之,这些大多数尚未描述的遗传畸变在不同脂肪组织中的重要性需要在更大的系列中证实。
Obesity is known as a heterogeneous and multifactorial disease. The distribution of body fat is crucial for the development of metabolic complications. Comprehensive genetic analyses on different fat tissues are rare but necessary to provide more detailed information. Therefore, we performed genetic analyses of three patients with obesity using high resolution genome wide SNP array (blood, visceral fat tissue) and fluorescence in situ hybridization (FISH) analyses (visceral and subcutaneous fat tissue). Altogether, we identified 31 small Copy Number Variations (losses: 1p31.1, 1p22.2, 1q21.3, 2q34, 2q37.1, 3q28, 6p25.3, 7q31.33, 7q33, 8p23.3, 10q22.3, 11p15.4, 11p15.1, 11p14.2, 11p12, 13q12.3, 15q11.2-q13.1, 15q13.3, 20q13.2, 22q11.21; gains: 2q22.1-q22.2, 3p14.3, 4p16.3, 4q32.2, 6q27, 7p14.3, 7q34, 11p12, 12p11.21, 16p11.2-p11.1, 17q21.31) and 289 small copy-neutral Loss of Heterozygosity (cn-LOH). For the chromosomal region 15q11.2-q13.1, we detected a microdeletion (Prader-Willi-Syndrome) in one patient. Interestingly, we identified chromosomal SNP differences between EDTA-blood and visceral fat tissue (deletion and gain). Small losses of 7q31.33, 7q33, 11p14.2, 11p12, 13q12.3 as well as small gain of 7q34 were detected only in fat tissue and not in blood. Furthermore, FISH analyses on 7q31.33, 7q33 and 11p12 revealed differences between subcutaneous and visceral fat tissue. Generally, the deletions were detected more frequent in visceral fat tissue. Predominantly detected cn-LOH vs. CNV suggests a meaning of these cn-LOH for the pathogenesis of obesity. We conclude that the SNP array and FISH analyses used is applicable to generate more information for basic research on difficult cell subpopulations (e.g., visceral adipose tissue) and could opens up new diagnostic aspects in the field of obesity. Altogether, the significance of these mostly not yet described genetic aberrations in different fat tissues needs to confirmed in a larger series.