BACKGROUND:A recent study reported strong evidence for the involvement of a region on human chromosome 1 and genetic susceptibility to anorexia nervosa (AN). A more detailed analysis of this region has suggested 2 genes that may account for this susceptibility. These data suggest that polymorphisms in both the serotonin 1D (HTR1D) and opioid delta 1 (OPRD1) receptor genes show a significant association with restricting AN (RAN). METHODS:In the current study, we have conducted an independent association study on 226 females meeting DSM-IV criteria for AN and 678 matched volunteers. RESULTS:We genotyped 4 SNPs in HTR1D and 6 SNPs in OPRD1. 3 SNPs were found to be associated with both RAN and binge-purge AN (BPAN) within the gene for OPRD1. We also found evidence of association between 2 polymorphisms within HTR1D and RAN. CONCLUSIONS:These data support the hypothesis that polymorphisms within this region form a component of the genetic basis to susceptibility to RAN. However, further work is required to understand the processes that may be mediated by these genes.

译文

摘要背景:最近的一项研究报道了有力的证据表明,人类第1号染色体上的一个区域参与了遗传性神经性厌食症(AN)的遗传易感性。对该区域进行的更详细分析表明,有2个基因可能解释了这种敏感性。这些数据表明,血清素1D(HTR1D)和阿片类药物δ1(OPRD1)受体基因的多态性均与限制性AN(RAN)密切相关。
方法:在本研究中,我们对226名符合DSM-IV标准的AN和678名匹配志愿者进行了独立的关联研究。
结果:我们对HTR1D中的4个SNP和OPRD1中的6个SNP进行了基因分型。发现3个SNP与OPRD1基因内的RAN和狂暴清除AN(BPAN)相关。我们还发现HTR1D和RAN中2个多态性之间存在关联的证据。
结论:这些数据支持以下假设:该区域内的多态性构成了对RAN易感性的遗传基础的组成部分。但是,需要进一步的工作来理解这些基因可能介导的过程。

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