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Independent Case (independent + case)

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Medical Sciences	50%

Selected Abstracts

Association between serotonin transporter gene polymorphism and eating disorders: A meta-analytic study

INTERNATIONAL JOURNAL OF EATING DISORDERS, Issue 6 2010
Yu Lee MD
Abstract Objective Compelling evidence has suggested a role for serotonin system dysfunction in the pathogenesis of eating disorders (EDs), including anorexia nervosa (AN) and bulimia nervosa (BN). Studies have examined the association between EDs and a functional polymorphism of the serotonin transporter gene promoter (5-HTTLPR). These studies have yielded inconsistent results. The present study aimed to determine conclusively whether there is an association by using a meta-analytic method. Method Data of over 2,000 participants from eight independent case,controlassociation studies were pooled by using a random effects model. Results AN was found to be significantly associated with the S allele (p < .001) and S carrier (SS + LS) genotype (p = .007). However, BN was associated neither with the S allele (p = .49) nor with the S carrier genotype (p = .33). Discussion These results suggested that the genetic variance of the serotonin transporter gene promoter contributed to the susceptibility of AN. © 2009 by Wiley Periodicals, Inc. Int J Eat Disord 2010; 43:498,504 [source]

Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis

ARTHRITIS & RHEUMATISM, Issue 5 2010
Elisa Docampo
Objective The risk of rheumatoid arthritis (RA) is increased in the offspring of individuals affected with various autoimmune disorders, including psoriasis. Recently, the deletion of 2 genes from the late cornified envelope (LCE) gene cluster, LCE3C and LCE3B, has been associated with psoriasis in several populations. The purpose of this study was to assess whether this polymorphic gene deletion could also be involved in susceptibility to RA. Methods We tested for association between the LCE3C_LCE3B copy number variant and a single-nucleotide polymorphism in strong linkage disequilibrium with this variant (rs4112788) and RA in 2 independent case,control data sets (197 and 400 samples from patients with RA, respectively, and 411 and 567 samples from control subjects, respectively), collected at 4 Spanish hospitals. All samples were directly typed for presence of the LCE3C_LCE3B deletion (LCE3C_LCE3B- del) by polymerase chain reaction, and association analysis was performed using the SNPassoc R package. Results An association of homozygosity for the LCE3C_LCE3B -del and rs4112788 C allele with the risk of RA was observed in the first data set and was replicated in an independent case,control set. A combined analysis showed an overall P value of 0.0012 (odds ratio [OR] 1.45, 95% confidence interval [95% CI] 1.16,1.81) for association of the LCE3C_LCE3B- del. When the analysis was stratified for serologic data, we observed association in anti,cyclic citrullinated peptide (anti-CCP),positive patients (P = 0.012, OR 1.51 [95% CI 1.09,2.13]) but not in anti-CCP,negative patients. Conclusion We have identified an association between the LCE3C_LCE3B -del and RA, and we have verified a pleiotropic effect of a common genetic risk factor (LCE3C_LCE3B- del) for autoimmune diseases that is involved in both psoriasis and RA. [source]

Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: A possible hot spot?

GENES, CHROMOSOMES AND CANCER, Issue 3 2006
Alberto Cascón
Pheochromocytoma and paraganglioma are rare neuroendocrine tumors that arise in the adrenal medulla and the extra-adrenal paraganglia, respectively. Inheritance of these tumors is mainly a result of mutations affecting the VHL, RET, NF1, and SDH genes. Germ-line mutations of the SDH genes have been found to account for nearly 10% of apparently sporadic cases. Nevertheless, alterations other than point mutations have not yet been well characterized. In this study, we investigated the frequency of gross SDH deletions in 24 patients who tested negative for point mutations and had at least one of the recommended features for genetic testing. For this purpose, we used a technique that is easy to implement in the lab to specifically detect gross deletions affecting SDHB, SDHC, and SDHD. We identified 3 heterozygous SDHB deletions (3/24) in 3 independent cases with paraganglioma: 1 whole SDHB deletion and 2 deletions exclusively affecting exon 1. These latter mutations match the unique gross deletion previously reported, indicating this region could be a hot spot for gross SDHB deletions. It seems likely that these alterations can account for a considerable number of both familial and apparently sporadic paraganglioma cases. Although this is the first report describing the presence of gross deletions in patients with apparently sporadic paragangliomas, the extra-adrenal location of the tumor seems to constitute a determining factor for whether to include these patients in genetic testing for gross deletions in the SDHB gene. © 2005 Wiley-Liss, Inc. [source]

Tropical storm impact in Central America

METEOROLOGICAL APPLICATIONS, Issue 1 2006
Sabino Palmieri
Abstract In this study of tropical storm impacts in Central America, the relationship between physical variables (available in ,real time') and damage is explored, and a simple tool for early approximate evaluation of the impact is developed. Land track and energy dissipation appear as the most interesting parameters that modulate the hurricane impact. Because of the difficulty of attaching a monetary estimate to the damage caused in a large number of cases (as is required in a statistical approach), an ,Impact Index' based on the logarithm of casualties is introduced. Thereafter, within a subset of events in which damage in monetary terms is known, a rough link between damage and the Impact Index is derived. Shortly after a new event, as soon as land track and energy dissipation are known, either by means of an empirical equation or using a contour graph, the Impact Index may be determined. Another empirical equation allows a rough estimate of damage in monetary units, but because this estimate is based on a limited number of cases, it must be treated with caution. The methodology is tested for a small set of independent cases. Vulnerability to tropical cyclones depends not only on natural factors but also on sociopolitical conditions. A coupled sociological and environmental approach is believed to be the best way to improve the early impact estimate methodology. Copyright © 2006 Royal Meteorological Society. [source]