Evidence of linkage and association with body fatness and abdominal fat on chromosome 15q26
Evidence of linkage and association with body fatness and abdominal fat on chromosome 15q26
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DOI：
10.1038/oby.2007.245
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发表时间：
2007-08-01
期刊：
影响因子：
6.9
通讯作者：
Perusse, Louis
中科院分区：
文献类型：
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作者：
Bouchard, Luigi;Bouchard, Claude;Perusse, Louis
目的：在本研究中，我们对先前在染色体15q26上报告的腹部皮下脂肪(ASF)数量性状基因座周围的20兆碱基区域进行了两步精细定位。研究方法和程序：首先，对19个微卫星(除了最初在15q24q26上获得的7个标记；总数=26)进行了基因分型和测试，以确定与腹部总脂肪、腹部内脏脂肪和腹部CT评估的连锁，并使用基于年龄和性别调整表型的方差成分方法，对腹部皮下脂肪(FST)进行评估。结果：精细定位后，ASF的优势比(LOD)得分的峰值对数(标记D 15S1004)从2.79增加到3.26，FM从3.52增加到4.48，而腹部总脂肪的峰值连锁(标记D15S996)从2.22下降到1.53。没有发现腹部内脏脂肪存在关联的证据。总体而言，在分型的SNPs中，位于MCTP2基因的三个变异与FM和三种腹脂表型显著相关(p
Objective: In the present study, we undertook a two-step fine mapping of a 20-megabase region around a quantitative trait locus previously reported on chromosome 15q26 for abdominal subcutaneous fat (ASF) in an extended sample of 707 subjects from 202 families from the Quebec Family Study.Research Methods and Procedure: First, 19 microsatellites (in addition to the 7 markers initially available on 15q24q26; total = 26) were genotyped and tested for linkage with abdominal total fat, abdominal visceral fat, and ASF assessed by computed tomography and with fat mass (FM) using variance component-based approach on age- and sex-adjusted phenotypes. Second, 16 single nucleotide polymorphisms (SNPs) were genotyped and tested for association using family-based association tests.Results: After the fine mapping, the peak logarithm of odds ratio (LOD) score (marker D 15S1004) increased from 2.79 to 3.26 for ASF and from 3.52 to 4.48 for FM, whereas for abdominal total fat, the peak linkage (marker D15S996) decreased from 2.22 to 1.53. No evidence of linkage was found for abdominal visceral fat. Overall, for genotyped SNPs, three variants located in the putative MCTP2 gene were significantly associated with FM and the three abdominal fat phenotypes (p