European journal of human genetics : EJHG
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Eur. J. Hum. Genet. · Mar 2006
Meta AnalysisMeta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility.
Alleles of tumor necrosis factor-alpha (TNF-alpha) gene have been inconsistently associated with systemic lupus erythematosus (SLE), particularly the 308-A/G functional promoter polymorphism. To generate large-scale evidence on whether 308-A/G promoter polymorphism is associated with SLE susceptibility we have conducted a meta-analysis. We have identified 21 studies of this polymorphism and SLE using MEDLINE search. ⋯ The overall OR for the risk genotypes (A/A and A/G) was 2.0 (CI=1.3-3.1, P<0.001). Similar results were found between the risk allele A and SLE where a significant association was found in European population (OR=2.1, CI=1.6-2.7, P<0.001), but not in Asian (OR=1.4, CI=0.8-2.3, P=0.2) or African (OR=1.2, CI=0.6-2.5, P=0.59) populations. In summary, this meta-analysis demonstrates that the TNF-alpha promoter -308 A/G polymorphism may confer susceptibility to SLE, especially in European-derived population.
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Eur. J. Hum. Genet. · Apr 2005
Comparative StudyGenetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients.
In Caucasians, maturity-onset diabetes of the young (MODY) is mostly caused by mutations in the hepatocyte nuclear factor (HNF)-1alpha (MODY3) and glucokinase (MODY2) genes. Most Japanese MODY patients, however, are not linked to known MODY genes. In this study, we examined the genetic and clinical characteristics of Chinese subjects with MODY. ⋯ Compared to MODY3 patients, MODYX patients had higher body mass index (P<0.02), higher insulin resistance index (P=0.001) and triglyceride level (P<0.02), lower HDL level (P=0.001) and more hypertension (P<0.05), but no significant difference in the prevalence of diabetic complications. In conclusion, MODY3 and MODY2 account for only 9 and 1%, respectively, of Chinese MODY. A majority of Chinese MODY patients are due to defects in unknown genes and appear to be characterized by insulin resistance.
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Eur. J. Hum. Genet. · Apr 2005
Case ReportsIdentification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) is an autosomal recessively inherited autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene on chromosome 12q24, which lead to a depressed enzymatic activity of mevalonate kinase (MK). TNF-receptor associated periodic syndrome (TRAPS), on the other hand, is the most frequent autosomal dominantly inherited periodic fever syndrome due to mutations in exons 2-4 and 6 of the TNFRSF1A gene on chromosome 12p13.2. ⋯ The girl was also heterozygous for the TNFRSF1A R92Q low-penetrance mutation, which may have significant proinflammatory effects. However, at the time of presentation, the patient had no TRAPS-associated symptoms.
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Eur. J. Hum. Genet. · Jan 2005
Comparative StudyFcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis.
It has been suggested that genes other than CFTR could modulate the severity of lung disease in cystic fibrosis (CF). Neutrophil Fcgamma receptor II (FcgammaRII) is involved in host defense against microorganisms and in inflammatory response. We evaluated the association between genetic variability of this gene and both airway infection with Pseudomonas aeruginosa and severity of lung disease in patients with CF. ⋯ R.: 4.38; 95% CI: 1.17/22.4). Moreover, the frequency of R/R genotype in patients with chronic P. aeruginosa infection seems to be higher than that of control subjects and patients without chronic infection. The observation that CF patients carrying the R allele of FcgammaRIIA are at higher risk of acquiring chronic P. aeruginosa infection suggests that the FcgammaRII loci genetic variation is contributing to this infection susceptibility.
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Eur. J. Hum. Genet. · Dec 2003
ReviewData storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective.
The purpose of this paper is to formulate a professional and scientific view on the social, ethical, and legal issues that impact on data storage and DNA banking practices for biomedical research in Europe. Many aspects have been considered, such as the requirements for data storage and DNA banking in the public and private sectors in Europe and the issues relating to DNA banking, that is to say the consent requirements for the banking and further uses of DNA samples, their control and ownership, and the return of benefit derived from DNA exploitation to the community. The methods comprise primarily the review of the existing professional guidelines, legal frameworks and other documents related to the data storage and DNA banking practices in public and private sectors in Europe. ⋯ However, banking organization is complex, requires multiple actors, and concerns are expressed in various countries. International standardization of ethical requirements and policies with regard to DNA banking has been recommended. Such standardization would facilitate a greater protection of individuals as well as future international cooperation in biomedical research.