Norris J M, Langefeld C D, Scherzinger A L, Rich S S, Bookman E, Beck S R, Saad M F, Haffner S M, Bergman R N, Bowden D W, Wagenknecht L E
Department of Preventive Medicine and Biometrics, University of Colorado Health Sciences Center, Denver, CO 80262, USA.
Int J Obes (Lond). 2005 Jan;29(1):67-77. doi: 10.1038/sj.ijo.0802793.
To conduct linkage analysis for body mass index (BMI, kg/m2), waist-to-hip ratio (WHR), visceral adipose tissue mass (VAT, cm2) and subcutaneous adipose tissue mass (SAT, cm2) using a whole genome scan.
Cross-sectional family study.
African-American families from Los Angeles (AA, n=21 extended pedigrees) and Hispanic-American families (HA) from San Antonio, TX (HA-SA, n=33 extended pedigrees) and San Luis Valley, CO (HA-SLV, n=12 extended pedigrees), totaling 1049 individuals in the Insulin Resistance and Atherosclerosis (IRAS) Family Study.
VAT and SAT were measured using a computed tomography scan obtained at the fourth and fifth lumbar vertebrae. All phenotypes were adjusted for age, gender, and study center. VAT, SAT, and WHR were analyzed both unadjusted and adjusted for BMI.
Significant linkage to BMI was found at D3S2387 (LOD=3.67) in African-Americans, and at D17S1290 in Hispanic-Americans (LOD=2.76). BMI-adjusted WHR was linked to 12q13-21 (D12S297 (LOD=2.67) and D12S1052 (LOD=2.60)) in Hispanic-Americans. The peak LOD score for BMI-adjusted VAT was found at D11S2006 (2.36) in Hispanic families from San Antonio. BMI-adjusted SAT was linked to D5S820 in Hispanic families (LOD=2.64). Evidence supporting linkage of WHR at D11S2006, VAT at D17S1290, and SAT at D1S1609, D3S2387, and D6S1056 was dependent on BMI, such that the LOD scores became nonsignificant after adjustment of these phenotypes for BMI.
Our findings both replicate previous linkage regions and suggest novel regions in the genome that may harbor quantitative trait locis contributing to variation in measures of adiposity.
通过全基因组扫描对体重指数（BMI，kg/m²）、腰臀比（WHR）、内脏脂肪组织质量（VAT，cm²）和皮下脂肪组织质量（SAT，cm²）进行连锁分析。
横断面家庭研究。
来自洛杉矶的非裔美国家庭（AA，21个扩展家系）以及来自德克萨斯州圣安东尼奥的西班牙裔美国家庭（HA - SA，33个扩展家系）和科罗拉多州圣路易斯谷的西班牙裔美国家庭（HA - SLV，12个扩展家系），胰岛素抵抗与动脉粥样硬化（IRAS）家庭研究中共有1049名个体。
使用在第四和第五腰椎处获得的计算机断层扫描测量VAT和SAT。所有表型均根据年龄、性别和研究中心进行了调整。VAT、SAT和WHR在未调整以及调整BMI后进行了分析。
在非裔美国人中，在D3S2387处发现与BMI存在显著连锁（LOD = 3.67），在西班牙裔美国人中，在D17S1290处发现与BMI存在显著连锁（LOD = 2.76）。在西班牙裔美国人中，调整BMI后的WHR与12q13 - 21（D12S297（LOD = 2.67）和D12S1052（LOD = 2.60））连锁。在来自圣安东尼奥的西班牙裔家庭中，调整BMI后的VAT的最高LOD分数在D11S2006处（2.36）。在西班牙裔家庭中，调整BMI后的SAT与D5S820连锁（LOD = 2.64）。支持WHR在D11S2006、VAT在D17S1290以及SAT在D1S1609、D3S2387和D6S1056处连锁的证据依赖于BMI，以至于在对这些表型进行BMI调整后，LOD分数变得不显著。
我们的研究结果既重复了先前的连锁区域，也提示了基因组中可能存在影响肥胖测量指标变异的数量性状位点的新区域。
