TY  - JOUR
A1  - Marenholz, Ingo
A1  - Esparza-Gordillo, Jorge
A1  - Rüschendorf, Franz
A1  - Bauerfeind, Anja
A1  - Strachan, David P.
A1  - Spycher, Ben D.
A1  - Baurecht, Hansjörg
A1  - Magaritte-Jeannin, Patricia
A1  - Sääf, Annika
A1  - Kerkhof, Marjan
A1  - Ege, Markus
A1  - Baltic, Svetlana
A1  - Matheson, Melanie C.
A1  - Li, Jin
A1  - Michel, Sven
A1  - Ang, Wei Q.
A1  - McArdle, Wendy
A1  - Arnold, Andreas
A1  - Homuth, Georg
A1  - Demenais, Florence
A1  - Bouzigon, Emmanuelle
A1  - Söderhäll, Cilla
A1  - Pershagen, Göran
A1  - de Jongste, Johan C.
A1  - Postma, Dirkje S.
A1  - Braun-Fahrländer, Charlotte
A1  - Horak, Elisabeth
A1  - Ogorodova, Ludmila M.
A1  - Puzyrev, Valery P.
A1  - Bragina, Elena Yu
A1  - Hudson, Thomas J.
A1  - Morin, Charles
A1  - Duffy, David L.
A1  - Marks, Guy B.
A1  - Robertson, Colin F.
A1  - Montgomery, Grant W.
A1  - Musk, Bill
A1  - Thompson, Philip J.
A1  - Martin, Nicholas G.
A1  - James, Alan
A1  - Sleiman, Patrick
A1  - Toskala, Elina
A1  - Rodriguez, Elke
A1  - Fölster-Holst, Regina
A1  - Franke, Andre
A1  - Lieb, Wolfgang
A1  - Gieger, Christian
A1  - Heinzmann, Andrea
A1  - Rietschel, Ernst
A1  - Keil, Thomas
A1  - Cichon, Sven
A1  - Nöthen, Markus M.
A1  - Pennel, Craig E.
A1  - Sly, Peter D.
A1  - Schmidt, Carsten O.
A1  - Matanovic, Anja
A1  - Schneider, Valentin
A1  - Heinig, Matthias
A1  - Hübner, Norbert
A1  - Holt, Patrick G.
A1  - Lau, Susanne
A1  - Kabesch, Michael
A1  - Weidinger, Stefan
A1  - Hakonarson, Hakon
A1  - Ferreira, Manuel A. R.
A1  - Laprise, Catherine
A1  - Freidin, Maxim B.
A1  - Genuneit, Jon
A1  - Koppelman, Gerard H.
A1  - Melén, Erik
A1  - Dizier, Marie-Hélène
A1  - Henderson, A. John
A1  - Lee, Young Ae
T1  - Meta-analysis identifies seven susceptibility loci involved in the atopic march
JF  - Nature Communications
N2  - Eczema often precedes the development of asthma in a disease course called the 'atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P = 2.1 x 10(-8)) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P = 5.3 x 10(-9)). Additional susceptibility loci identified at genome-wide significance are FLG (1q21.3), IL4/KIF3A (5q31.1), AP5B1/OVOL1 (11q13.1), C11orf30/LRRC32 (11q13.5) and IKZF3 (17q21). We show that predominantly eczema loci increase the risk for the atopic march. Our findings suggest that eczema may play an important role in the development of asthma after eczema.
KW  - chromosome 11Q13
KW  - risk
KW  - genomewide association
KW  - hay fever
KW  - birth cohort
KW  - filaggrin mutations
KW  - food allergy
KW  - juvenile myoclonic epilepsy
KW  - childhood asthma
KW  - dermatitis
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-139835
VL  - 6
IS  - 8804
ER  - 
TY  - JOUR
A1  - Franz, David J.
T1  - Moral responsibility for self-deluding beings
JF  - Philosophia
N2  - In this article, I argue for four theses. First, libertarian and compatibilist accounts of moral responsibility agree that the capability of practical reason is the central feature of moral responsibility. Second, this viewpoint leads to a reasons-focused account of human behavior. Examples of human action discussed in debates about moral responsibility suggest that typical human actions are driven primarily by the agent’s subjective reasons and are sufficiently transparent for the agent. Third, this conception of self-transparent action is a questionable idealization. As shown by psychological research on self-assessment, motivated reasoning, and terror management theory, humans oftentimes have only a limited understanding of their conduct. Self-deception is rather the rule than the exception. Fourth, taking the limited self-transparency of practical reason seriously leads to a socially contextualized conception of moral responsibility.
KW  - moral responsibility
KW  - self-deception
KW  - reasoning biases
KW  - practical reasoning
KW  - rationalization
KW  - motivated reasoning
Y1  - 2022
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-324871
SN  - 0048-3893
VL  - 50
IS  - 4
ER  - 
TY  - JOUR
A1  - Vona, Barbara
A1  - Mazaheri, Neda
A1  - Lin, Sheng-Jia
A1  - Dunbar, Lucy A.
A1  - Maroofian, Reza
A1  - Azaiez, Hela
A1  - Booth, Kevin T.
A1  - Vitry, Sandrine
A1  - Rad, Aboulfazl
A1  - Rüschendorf, Franz
A1  - Varshney, Pratishtha
A1  - Fowler, Ben
A1  - Beetz, Christian
A1  - Alagramam, Kumar N.
A1  - Murphy, David
A1  - Shariati, Gholamreza
A1  - Sedaghat, Alireza
A1  - Houlden, Henry
A1  - Petree, Cassidy
A1  - VijayKumar, Shruthi
A1  - Smith, Richard J. H.
A1  - Haaf, Thomas
A1  - El-Amraoui, Aziz
A1  - Bowl, Michael R.
A1  - Varshney, Gaurav K.
A1  - Galehdari, Hamid
T1  - A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
JF  - Human Genetics
N2  - Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorineural hearing loss, allowed us to identify CLRN2, encoding a tetraspan protein, as a new deafness gene. Homozygosity mapping followed by exome sequencing identified a 14.96 Mb locus on chromosome 4p15.32p15.1 containing a likely pathogenic missense variant in CLRN2 (c.494C > A, NM_001079827.2) segregating with the disease. Using in vitro RNA splicing analysis, we show that the CLRN2 c.494C > A variant leads to two events: (1) the substitution of a highly conserved threonine (uncharged amino acid) to lysine (charged amino acid) at position 165, p.(Thr165Lys), and (2) aberrant splicing, with the retention of intron 2 resulting in a stop codon after 26 additional amino acids, p.(Gly146Lysfs*26). Expression studies and phenotyping of newly produced zebrafish and mouse models deficient for clarin 2 further confirm that clarin 2, expressed in the inner ear hair cells, is essential for normal organization and maintenance of the auditory hair bundles, and for hearing function. Together, our findings identify CLRN2 as a new deafness gene, which will impact future diagnosis and treatment for deaf patients.
KW  - deafness
KW  - CLRN2
KW  - gene
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-267740
SN  - 1432-1203
VL  - 140
IS  - 6
ER  - 
TY  - JOUR
A1  - Franz, David J.
T1  - Is Applied Ethics Morally Problematic?
JF  - Journal of Academic Ethics
N2  - This paper argues that applied ethics can itself be morally problematic. As illustrated by the case of Peter Singer’s criticism of social practice, morally loaded communication by applied ethicists can lead to protests, backlashes, and aggression. By reviewing the psychological literature on self-image, collective identity, and motivated reasoning three categories of morally problematic consequences of ethical criticism by applied ethicists are identified: serious psychological discomfort, moral backfiring, and hostile conflict. The most worrisome is moral backfiring: psychological research suggests that ethical criticism of people’s central moral convictions can reinforce exactly those attitudes. Therefore, applied ethicists unintentionally can contribute to a consolidation of precisely those social circumstances that they condemn to be unethical. Furthermore, I argue that the normative concerns raised in this paper are not dependent on the commitment to one specific paradigm in moral philosophy. Utilitarianism, Aristotelian virtue ethics, and Rawlsian contractarianism all provide sound reasons to take morally problematic consequences of ethical criticism seriously. Only the case of deontological ethics is less clear-cut. Finally, I point out that the issues raised in this paper provide an excellent opportunity for further interdisciplinary collaboration between applied ethics and social sciences. I also propose strategies for communicating ethics effectively.
KW  - consequences of ethical criticism
KW  - applied ethics
KW  - motivated reasoning
KW  - Peter Singer
KW  - interdisciplinary moral philosophy
KW  - moral reasoning
Y1  - 2022
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-269095
SN  - 1572-8544
VL  - 20
ER  -