Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians
Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians
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DOI：
10.1086/301758
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发表时间：
1998-03-01
影响因子：
9.8
通讯作者：
Ravussin, E
中科院分区：
文献类型：
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作者：
Norman, RA;Tataranni, PA;Ravussin, E
在易患肥胖的皮马印第安人中完成了常染色体基因组扫描，以寻找肥胖和能量代谢的联系。肥胖通过体脂百分比（通过水密度测量）和脂肪分布（腰围与大腿围的比值）来评估。能量代谢以；24小时代谢率、睡眠代谢率和24小时呼吸商（24RQ）， 24小时呼吸商是碳水化合物氧化与脂肪氧化比率的指标。分析了516个微卫星标记，中位间距为6.4 cM，其中362个有身体成分测量值的兄弟姐妹和220个有能量代谢测量值的兄弟姐妹。这些研究包括127个核心家庭的451对同胞对，用于肥胖的连锁分析，以及82个核心家庭的236对同胞对，用于能量代谢的连锁分析。点和多点相遇：通过血统回归兄弟姐妹对身份差异的方法，以及基于兄弟姐妹的方差成分方法，用于检测联系。在11q21-q22，体脂百分比（LOD = 2.1; P = .001）， 11q23-q24, 24小时能量消耗（LOD = 2.0; P = .001），以及1p31-p21 （LOD = 2.0）和20q11.2 (LOD = 3.0; P = .0001)，通过点和多点分析发现LOD评分大于或等于2。方差成分法发现，体脂百分比在18q21和24RQ在1p31-p21 （LOD = 2.8, P = 0.0003）的LOD评分最高（LOD = 2.3 P = 0.0006）。可能的候选基因包括位于1p31的LEPR （leptin receptor）和位于20q11.2的ASIP （agouti-signaling protein）。
An autosomal genomic scan to search for linkage to obesity and energy metabolism was completed in Pima Indians, a population prone to obesity. Obesity was assessed by percent body fat (by hydrodensitometry) and fat distribution (the ratio of waist circumference to thigh circumference). Energy metabolism was measured in;a respiratory chamber as 24-h metabolic rate, sleeping metabolic rate, and 24-h respiratory quotient (24RQ), an indicator of the ratio of carbohydrate oxidation to fat oxidation. Five hundred sixteen microsatellite markers with a median spacing of 6.4 cM were analyzed, in 362 siblings who had measurements of body composition and in 220 siblings who had measurements of energy metabolism. These comprised 451 sib pairs in 127 nuclear families, for linkage analysis to obesity, and 236 sib pairs in 82 nuclear families, for linkage analysis to energy metabolism. Pointwise and multipoint met:hods for regression of sib-pair differences in identity by descent, as well as a sibling-based variance-components method, were used to detect linkage. LOD scores greater than or equal to 2 were found at 11q21-q22, for percent body fat (LOD = 2.1; P = .001), at 11q23-q24, for 24-h energy expenditure (LOD = 2.0; P = .001), and at 1p31-p21 (LOD = 2.0) and 20q11.2 (LOD = 3.0; P = .0001), for 24RQ, by pointwise and multipoint analysts. With the variance-components method, the highest LOD score (LOD = 2.3 P = .0006) was found at 18q21, for percent body fat, and at 1p31-p21 (LOD = 2.8; P = .0003), for 24RQ. Possible candidate genes include LEPR (leptin receptor), at 1p31, and ASIP (agouti-signaling protein), at 20q11.2.