Major gene influence on the propensity to store fat in trunk versus extremity depots: evidence from the Quebec Family Study.
Major gene influence on the propensity to store fat in trunk versus extremity depots: evidence from the Quebec Family Study.
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主要基因对躯干和四肢储存脂肪倾向的影响：来自魁北克家庭研究的证据。
DOI：
10.1002/j.1550-8528.1995.tb00115.x
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
Rao,DC
中科院分区：
文献类型：
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作者：
Borecki,IB;Rice,T;Perusse,L;Bouchard,C;Rao,DC
区域脂肪分布与较高的心血管发病率和死亡率风险相关，与一般肥胖无关。特别是，脂肪沉积的集中模式（其特征是腹部储存量相对于四肢储存量更大）与代谢并发症的更高倾向相关。出于这些考虑，我们启动了对区域脂肪分布的几种测量方法的系统研究，旨在识别可能的主要基因效应。皮下脂肪储存大小有两个近似值：六个皮褶厚度之和（SF6 = 腹部 + 上肌 + 肩胛下 + 小腿 + 三头肌 + 二头肌），以及三个躯干皮褶厚度之和（TSF3 = 腹部 + 上肌 + 肩胛下）。这两种表型都与总脂肪量高度相关，SF6 和 TSF3 分别为 0. 83 和 0.78。躯干与四肢的比例 [TER = TSF3 / (小腿 + 三头肌 + 二头肌)] 可能是这些表型中最重要的，因为它是集中性肥胖的指标；它与脂肪量有一定的相关性（r = 0.18）。在分析之前，通过回归对这些表型中的每一个进行了总脂肪量的调整，以便我们可以检查遗传对这些区域脂肪分布测量的影响，而不会受到脂肪量本身决定因素的混杂影响。控制总脂肪量的 SF6 和 TSF3 分离分析表明，观察到的表型分布存在重大影响；然而，对传播概率的测试并没有证实孟德尔基因的分离。尽管 TER 表达存在性别二态性，但与男性和女性相比，年龄、代际、性别和脂肪量调整的 TER 分布并不存在显着异质性。获得了隐性主基因决定子的一致证据，占表型方差的 37%，该基因的频率导致 TER 值高达 0.35。这一发现表明有必要进一步研究特定候选基因的作用。
Regional fat distribution is related to higher risks of cardiovascular morbidity and mortality, independent of general obesity. In particular, a centralized pattern of fat deposition, characterized by greater abdominal stores relative to extremity stores, is associated with a higher propensity to metabolic complications. Motivated by these considerations, we have initiated a systematic investigation of several measures of regional fat distribution aimed at the identification of possible major gene effects. Two measures approximate the size of subcutaneous fat stores: the sum of six skinfold thicknesses (SF6 = abdominal + suprailiac + subscapular + calf + triceps‐+ biceps), and the sum of three trunk skinfold thicknesses (TSF3 = abdominal + suprailiac + subscapular). Both of these phenotypes are highly correlated with total fat mass, 0. 83 and 0.78 for SF6 and TSF3, respectively. The trunk to extremity ratio [TER = TSF3 / (calf + triceps + biceps)] is perhaps the most important of these phenotypes insofar as it is an index of centralized obesity; it is modestly correlated with fat mass (r = 0.18). Each of these phenotypes was adjusted for total fat mass by regression prior to analysis so that we could examine genetic effects on these measures of regional fat distribution without the confounding influence of the determinants of fat mass itself. Segregation analysis of SF6 and TSF3 controlled for total fat mass suggests the presence of a major effect underlying the observed phenotypic distribution; however, tests on the transmission probabilities did not substantiate the segregation of a Mendelian gene. Despite the sexual dimorphism in the expression of the TER, the distribution of age‐, generation‐, sex‐, and fat mass‐adjusted TER was not significantly heterogeneous comparing males to females. Consistent evidence of a recessive major gene determinant was obtained, accounting for 37% of the phenotypic variance with the frequency of the gene leading to high values of the TER being 0.35. This finding suggests that further studies to investigate the role of specific candidate genes are warranted.