scholarly journals Vasopressin receptor 1A promoter region repeat is associated with childhood onset aggression.

Author(s):  
O. Vollebregt ◽  
E. Koyama ◽  
C.C. Zai ◽  
S.A. Shaikh ◽  
A.J. Lisoway ◽  
...  
1995 ◽  
Vol 270 (34) ◽  
pp. 20042-20050 ◽  
Author(s):  
Satoshi Murasawa ◽  
Hiroaki Matsubara ◽  
Kazuhisa Kijima ◽  
Katsuya Maruyama ◽  
Yasukiyo Mori ◽  
...  

2008 ◽  
Vol 4 (4) ◽  
pp. 375-378 ◽  
Author(s):  
Lia Rosso ◽  
Laurent Keller ◽  
Henrik Kaessmann ◽  
Robert L Hammond

It has been suggested that primate mating and social behaviours may be influenced by variation in promoter region repetitive DNA of the vasopressin receptor 1a gene ( avpr1a ). We show that male mating behaviour does not covary in a simple way with promoter repetitive DNA in 12 Old World primates. We found that one microsatellite (−553 bp upstream) was present in all species, irrespective of their behaviour. By contrast, two microsatellites (−3956 and −3625 bp upstream) were present only in some species, yet this variation did not correlate with behaviour. These findings agree with a recent comparative analysis of voles and show that the variation in repetitive DNA in the avpr1a promoter region does not generally explain variation in male mating behaviour. Phylogenetic analysis revealed a GAGTA motif that has been independently deleted three times and involved in another larger deletion. Importantly, the presence/absence of this GAGTA motif leads to changes in predicted transcription factor-binding sites. Given the repeated loss of this motif, we speculate that it might be of functional relevance. We suggest that such non-repetitive variation, either in indels or in sequence variation, are likely to be important in explaining interspecific variation in avpr1a expression.


2005 ◽  
Vol 26 (1) ◽  
pp. 2-10 ◽  
Author(s):  
Rachel Bachner-Melman ◽  
Ada H. Zohar ◽  
Naomi Bacon-Shnoor ◽  
Yoel Elizur ◽  
Lubov Nemanov ◽  
...  

Abstract. Two markers near the vasopressin receptor (AVPR1A) gene located on chromosome 12q14-15 were tested for linkage to two complex social behaviors in humans: Sibling relationships and self-presentation style. Self-report questionnaires were administered to 552 same-sex siblings from 248 families. Suggestive linkage was observed between both microsatellites (RS1 and RS3) and the Sibling Relationship Questionnaire Conflict scale (RS1: χ2 = 13.65, LOD = 2.96, p = .0001; RS3: χ2 = 14.54, LOD = 3.16, p = .00007) and the Concern for Appropriateness Scale Self-presentational style (RS1: χ2 = 8.25, LOD = 1.79 p = .002; RS3: χ2 = 8.81, LOD = 1.91, p = .002. The current results provide the first provisional evidence that the vasopressin receptor mediates social behavior in humans and links a specific genetic element to perceived sibling interactions.


2004 ◽  
Vol 171 (4S) ◽  
pp. 256-257
Author(s):  
Kazunori Haga ◽  
Ataru Sazawa ◽  
Toru Harabayashi ◽  
Nobuo Shinohara ◽  
Minoru Nomoto ◽  
...  

1991 ◽  
Vol 65 (05) ◽  
pp. 487-490 ◽  
Author(s):  
A E Thomas ◽  
F R Green ◽  
C H Kelleher ◽  
H C Wilkes ◽  
P J Brennan ◽  
...  

SummaryWe investigated the association between fibrinogen levels and a HaeIII restriction fragment length polymorphism located at −453 bp from the start of transcription of the β fibrinogen gene. 292 healthy men aged 45 to 69 years, recruited from general practices throughout Britain, were studied. None had a history of ischaemic heart disease. 41.1% (120) were smokers and fibrinogen levels were higher in this group. The frequency of the noncutting allele (designated H2) was 0.19 and was the same in smokers and non-smokers. The H2 allele was associated with elevated levels of fibrinogen in both smokers and non-smokers and the effect of genotype was similar in both groups. After smoking, HaeIII genotype was the strongest predictor of fibrinogen levels and explained 3.1% of the variance in fibrinogen levels. These results confirm earlier studies that variation at the fibrinogen locus contributes to the between-individual differences in plasma fibrinogen level.


Author(s):  
Deirdre O'Sullivan ◽  
Michael Moore ◽  
Susan Byrne ◽  
Andreas O. Reiff ◽  
Susanna Felsenstein

AbstractAcute disseminated encephalomyelitis in association with extensive longitudinal transverse myelitis is reported in a young child with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibody with heterozygous NLRP3 missense mutations; p.(Arg488Lys) and p.(Ser159Ile). This case may well present an exceptional coincidence, but may describe a yet unrecognized feature of the spectrum of childhood onset cryopyrinopathies that contribute to the understanding of the genetic basis for anti-MOG antibody positive encephalomyelitis. Based on this observation, a larger scale study investigating the role of NLRP3 and other inflammasomes in this entity would provide important pathophysiological insights and potentially novel avenues for treatment.


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