新浪登录
腾讯登录Nature：FTO基因SNP位点显著影响体重
| 导读 | <img class="aligncenter" src="http://a1.att.hudong.com/72/24/01300000263715123073248347418_s.jpg" alt="FTO基因（图）肥胖基因" />
在一项最新的研究中，澳大利亚昆士兰大学数量遗传学教授Peter Visscher和... |
<img class="aligncenter" src="http://a1.att.hudong.com/72/24/01300000263715123073248347418_s.jpg" alt="FTO基因（图）肥胖基因" />
在一项最新的研究中，澳大利亚昆士兰大学数量遗传学教授Peter Visscher和他的同事们发现FTO基因序列上的单个核苷酸变化对身体质量指数(body mass index, BMI)的变化产生显著性的影响。<!--more-->
<div></div>
BMI是一种常用的测量肥胖的标准。它测量一个人的体重，并根据他或她的身高进行校正。Visscher教授说，被称作单核苷酸多态性(single nucleotide polymorphism, SNP)的基因变化是一个核苷酸被另一个核苷酸替换。它是人基因组中最为常见性的变异。
在分析了来自将近17万人的数据之后，Visscher教授和他的同事们证实FTO基因序列发生单个核苷酸变化的的人们平均而言体重更重，而且测量出的体重变异性也要比携带正常FTO基因的人们更大。
事实上，就携带这种基因FTO变异体两个拷贝的人们而言，他们的BMI变异性要比不携带这种变异体的人们高出7%。
Visscher教授的研究是第一次大规模地和系统性地研究基因效应对人类的一种复杂性状变异性的影响。这项研究是非常重要的，这是因为它证实基因能够影响性状变异性。它也是第一次让研究人员基于环境相互作用来间接地测量基因型，同时不用测量特异性的环境因子。
<div id="ztload">
<div></div>
<div>
<div>
<img src="http://www.bioon.com/biology/UploadFiles/201209/2012091723233352.jpg" alt="" width="113" height="149" border="0" />
<a title="" href="http://dx.doi.org/10.1038/nature11401" target="_blank">doi: 10.1038/nature11401</a>
PMC:
PMID:
</div>
<div>
<br/><strong>FTO genotype is associated with phenotypic variability of body mass index</strong><br/>
Jian Yang, Ruth J. F. Loos, Joseph E. Powell et al.
BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries are independent of each other, is unknown. In a prospective comparative cohort study, we, therefore, investigated the distribution of constitutional FMR1 genotypes, normal (norm), heterozygous (het) and homozygous (hom), and of their respective sub-genotypes (high/low), in 99 BRCA1/2 mutation-positive women and 410 female controls to determine whether distribution patterns differed between study and control patients. In contrast to controls, BRCA1/2 carriers demonstrated almost complete absence of all constitutional FMR1 genotypes except for sub-genotypes with low (CGG n<26) alleles. Cross tabulation between BRCA1/2-positive patients and controls confirmed significant group membership, related to FMR1 distribution (P<0.0001). These results offer as most likely explanation the conclusion that BRCA1/2 mutations are embryo-lethal, unless rescued by low (CGG n<26) FMR1 sub-genotypes, present in approximately one quarter of all women. Women with low FMR1 sub-genotypes, therefore, should reflect increased BRCA1/2-associated cancer risks, while the remaining approximately 75 percent should face almost no such risks. If confirmed, this observation offers opportunities for more efficient and less costly BRCA1/2 cancer screening. The study also suggests that previously reported risk towards prematurely diminished ovarian reserve in association with BRCA mutations is FMR1-mediated, and offers a possible explanation for the so-called “BRCA paradox” by raising the possibility that the widely perceived BRCA1/2-associated tumor risk is actually FMR1-mediated.
<br/>来源：生物谷
</div>
</div>
</div>
在一项最新的研究中，澳大利亚昆士兰大学数量遗传学教授Peter Visscher和他的同事们发现FTO基因序列上的单个核苷酸变化对身体质量指数(body mass index, BMI)的变化产生显著性的影响。<!--more-->
<div></div>
BMI是一种常用的测量肥胖的标准。它测量一个人的体重，并根据他或她的身高进行校正。Visscher教授说，被称作单核苷酸多态性(single nucleotide polymorphism, SNP)的基因变化是一个核苷酸被另一个核苷酸替换。它是人基因组中最为常见性的变异。
在分析了来自将近17万人的数据之后，Visscher教授和他的同事们证实FTO基因序列发生单个核苷酸变化的的人们平均而言体重更重，而且测量出的体重变异性也要比携带正常FTO基因的人们更大。
事实上，就携带这种基因FTO变异体两个拷贝的人们而言，他们的BMI变异性要比不携带这种变异体的人们高出7%。
Visscher教授的研究是第一次大规模地和系统性地研究基因效应对人类的一种复杂性状变异性的影响。这项研究是非常重要的，这是因为它证实基因能够影响性状变异性。它也是第一次让研究人员基于环境相互作用来间接地测量基因型，同时不用测量特异性的环境因子。
<div id="ztload">
<div></div>
<div>
<div>
<img src="http://www.bioon.com/biology/UploadFiles/201209/2012091723233352.jpg" alt="" width="113" height="149" border="0" />
<a title="" href="http://dx.doi.org/10.1038/nature11401" target="_blank">doi: 10.1038/nature11401</a>
PMC:
PMID:
</div>
<div>
<br/><strong>FTO genotype is associated with phenotypic variability of body mass index</strong><br/>
Jian Yang, Ruth J. F. Loos, Joseph E. Powell et al.
BRCA1/2 mutations and recently described constitutional FMR1 genotypes have, independently, been associated with prematurely diminished ovarian reserve. Whether they interrelate in distribution, and whether observed effects of BRCA1/2 and FMR1 on ovaries are independent of each other, is unknown. In a prospective comparative cohort study, we, therefore, investigated the distribution of constitutional FMR1 genotypes, normal (norm), heterozygous (het) and homozygous (hom), and of their respective sub-genotypes (high/low), in 99 BRCA1/2 mutation-positive women and 410 female controls to determine whether distribution patterns differed between study and control patients. In contrast to controls, BRCA1/2 carriers demonstrated almost complete absence of all constitutional FMR1 genotypes except for sub-genotypes with low (CGG n<26) alleles. Cross tabulation between BRCA1/2-positive patients and controls confirmed significant group membership, related to FMR1 distribution (P<0.0001). These results offer as most likely explanation the conclusion that BRCA1/2 mutations are embryo-lethal, unless rescued by low (CGG n<26) FMR1 sub-genotypes, present in approximately one quarter of all women. Women with low FMR1 sub-genotypes, therefore, should reflect increased BRCA1/2-associated cancer risks, while the remaining approximately 75 percent should face almost no such risks. If confirmed, this observation offers opportunities for more efficient and less costly BRCA1/2 cancer screening. The study also suggests that previously reported risk towards prematurely diminished ovarian reserve in association with BRCA mutations is FMR1-mediated, and offers a possible explanation for the so-called “BRCA paradox” by raising the possibility that the widely perceived BRCA1/2-associated tumor risk is actually FMR1-mediated.
<br/>来源：生物谷
</div>
</div>
</div>
还没有人评论，赶快抢个沙发