Slouching Toward Policy: Lazy Bioethics and the Perils of Science Fiction

Too much contemporary bioethical discourse is weak on science, lazily citing and adopting science fiction scenarios rather than science facts in the framing of analyses and policies. We challenge bioethicists to take more seriously the role of providing informed insight into and oversight over contemporary science and its implications and applications. Bioethicists must work harder to understand the fast-changing truths and limits of basic science, and they must incorporate only appropriate and authentic science into their discourse, just as they did in the past when addressing the quandaries of clinical medicine. The field of bioethics is not so old and entrenched that its future is assured. Bioethicists must make themselves useful to society in order to deserve and retain the public's trust. They can best do this by ensuring that decision making and public policy are grounded in facts, not fictions and fantasies.     

The Dopamine D4 Receptor (DRD4) Exon 3 VNTR Contributes to Adaptive Personality Differences in an Italian Small Island Population

The search for evolutionary forces shaping the diversity of human personality traits encouraged studies that have found that islanders are relatively closed and introverted, with little interest in the external world. The ‘personality gene flow’ hypothesis was proposed to explain the mechanism underlying this difference, suggesting that the frequency of alleles that influence islander personality traits might progressively increase in the gene pools on islands because of selective emigration of individuals not displaying these alleles. We genotyped 96 individuals from the Italian mainland and 117 from Giglio Island, whose residents were previously assessed regarding their personality traits. We genotyped three polymorphisms: the dopamine D4 receptor (DRD4) exon 3 repeat region, the serotonin‐transporter SLC6A4 5‐HTTLPR indel and the dopamine transporter SLC6A3 DAT1 3′UTR repeat region. Only the DRD4 exon 3 repeat was hypothesised to show varying allele frequencies because this polymorphism could be associated with human migration and personality traits such as extraversion, openness and novelty seeking. As predicted, no differences in allele frequencies were found for the SLC6A4 and SLC6A3 polymorphisms, whereas significant differences were observed in the frequency of the DRD4 exon 3 alleles. The DRD4.2 repeat was more common in mainlanders, as expected, whereas the DRD4.7 allele was over‐represented among islanders who never emigrated. This last result contradicts the suggested association of this allele with long‐distance migrations. We suggest that emigration might have caused gene flow out the island that resulted in somewhat unpredictable changes in the frequencies of specific alleles, thus influencing islander personality traits. Copyright © 2013 European Association of Personality Psychology     

假性甲状旁腺功能减退症的研究进展

假性甲状旁腺功能减退症是一种罕见的遗传性疾病,由甲状旁腺激素(PTH)抵抗所致。临床特点有低钙高磷血症、血清PTH升高,部分可表现为Albright遗传性骨营养不良症,并伴有多发激素抵抗。分子遗传学研究表明本症与编码Gs蛋白α亚基(Gsα)的GNAS1基因缺陷相关。Gsα的失活性突变导致AHO畸形,而多发激素抵抗可能是由于组织特异性的GNAS1印记缺陷所致。补充钙剂和活性维生素D是有效的治疗方法,基因治疗是未来的研究方向。     

A genetic variant (COMT) coding dopaminergic activity predicts personality traits in healthy elderly

Association studies between the NEO five factor personality inventory and COMT rs4680 have focused on young adults and the results have been inconsistent. However, personality and cortical changes with age may put older adults in a more sensitive range for detecting a relationship. The present study examined associations of COMT rs4680 and personality in older adults.Genetic association analyses were carried out between the NEO and the targeted COMT rs4680 in a large, well-characterized sample of healthy, cognitively normal older adults (N = 616, mean age = 69.26 years).Three significant associations were found: participants with GG genotype showed lower mean scores on Neuroticism (p = 0.039) and higher scores on Agreeableness (p = 0.020) and Conscientiousness (p = 0.006) than participants with AA or AG genotypes.These results suggest that older adults with higher COMT enzymatic activity (GG), therefore lower dopamine level, have lower Neuroticism scores, and higher Agreeableness and Conscientiousness scores. This is consistent with a recent model of phasic and tonic dopamine release suggesting that even though GG genotype is associated with lower tonic dopamine release, the phasic release of dopamine might be optimal for a more adaptive personality profile.     

Individual differences in positivity offset and negativity bias: Gender-specific associations with two serotonin receptor genes

Individual differences in the evaluation of affective stimuli, such as the positivity offset and negativity bias may have a biological basis. We tested whether two SNPs (HTR2A; 102T>C and HTR1A; 1019C>G) related to serotonin receptor function, a biological pathway associated with affective regulation, were differentially related to positivity offset and negativity bias for males and females. Participants were 109 cigarette smokers who rated a series of affective stimuli to assess reactions to positive and negative pictures. Gender × genotype interactions were found for both SNPs. Males with the 102T allele showed a greater positivity offset than males with the 102C allele. For females, in contrast, the 1019C allele was associated with a greater positivity offset than the 1019G allele, whereas the 102T allele was associated with a greater negativity bias than the 102C allele. Identifying how gender differences may moderate the effect of serotonin receptor genes on affective information processing may provide insight into their role in guiding behavior and regulating affect.     

NAVIGATING THE FUTURE IN A SEA OF CRISPR UNCERTAINTY

Humanity's toolkit for altering the world we live in now includes CRISPR. Through an evolutionary process, bacteria acquired a way to protect themselves from an invading virus, making their immediate future more secure. In human hands, this powerful genome-editing tool offers the potential to impact, at a breathtaking rate, not only our own evolutionary future, but the future of other life on this planet. Ethical concerns about altering genomes are not new, but the birth of two CRISPR gene-edited babies last year created a renewed urgency around navigating the future and the lack of an agreed-upon map to guide us is distressing. The goal of this article is not to provide that map but to suggest two essential questions, drawn from the context of events surrounding CRISPR to date, that should guide its drafting—“Who do we trust?” and “When is it time to act?”—and to consider what Unitarian Universalism might contribute to answering those questions.     

“三腿一平台”组成的“基因打靶”——评介2007年度诺贝尔医学奖

2007年度诺贝尔医学奖项目——基因打靶,由三腿和一个平台所构成。三条腿分别是转基因学、同源重组和胚胎干细胞,一个平台指的是基因敲除。除了评价这些组成部分以外,还对推迟评奖进行了质疑。     

COMT基因rs6267多态性与母亲教养行为对青少年身体攻击和关系攻击的交互作用

遗传与环境如何交互作用影响儿童青少年的攻击行为是当前攻击研究中的重要前沿课题之一。近年来, 分子遗传学关于人类攻击的研究已拓展到对不同攻击亚类(身体攻击和关系攻击)的遗传基础的探讨。本研究运用问卷法与DNA分型技术, 对1258名儿童进行为时4年(四年级—七年级)的追踪调查, 考察COMT基因rs6267多态性与母亲教养行为对青少年身体攻击和关系攻击的交互作用以及性别在其中的调节作用。结果发现, COMT基因rs6267多态性与母亲教养行为仅交互作用于男青少年的身体攻击, 母亲教养行为显著预测GG 基因型男青少年的身体攻击, 但对T等位基因男青少年身体攻击的预测作用并不显著。COMT基因rs6267多态性与母亲教养行为对青少年关系攻击的交互作用不显著。本研究结果表明, 身体攻击和关系攻击具有不同遗传基础和发生机制。     

从基因疫苗的研究进展谈科学技术"双刃剑"

基因疫苗可以利用宿主细胞的蛋白合成系统合成目的抗原,诱导机体产生针对该抗原的体液和细胞免疫应答,具有安全性高和诱导全面免疫应答的能力,在肿瘤和病毒性疚病中具有良好的应用前景;但基因疫苗的潜在危险不容忽视,提高其疗效、减轻其副作用成为疫苗研制的重要方向.