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Investigated Polymorphisms (investigated + polymorphism)

Distribution by Scientific Domains

Medical Sciences	75%

Selected Abstracts

Dopamine receptor gene polymorphisms in Parkinson's disease patients reporting "sleep attacks"

MOVEMENT DISORDERS, Issue 11 2004
Ida Rissling MD
Abstract Genes encoding proteins involved in dopaminergic transmission are potential candidate genes for the induction of somnolence in Parkinson's disease (PD) because dopaminergic agents have been shown to be associated with sudden onset of sleep (SOS) in PD. We conducted an association study on dopamine D2, D3, and D4 receptor gene polymorphisms comparing 137 PD patients with SOS and 137 PD patients without SOS matched according to drug therapy, disease duration, sex, and age. Our results show a significant association between the dopamine D2 receptor gene polymorphism Taq IA and SOS in PD. No significant association between two other investigated polymorphisms and the phenomenon of "sleep attacks" in PD was observed. © 2004 Movement Disorder Society [source]

Norepinephrine transporter and ,2c adrenoceptor allelic variants and personality factors,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 6 2002
Shih-Jen Tsai
Abstract It has been suggested that reward dependence, as measured by the Tridimensional Personality Questionnaire (TPQ), is related to central noradrenergic activity, a proposition supported by two studies of urinary norepinephrine metabolite. In the current investigation, 190 normal young Han Chinese were examined, with genetic polymorphisms determined for the norepinephrine transporter (1287G/A) and the ,2c -adrenoceptor (Del322,325) to test the association with TPQ personality traits. No significant association was demonstrated for these two polymorphisms and any of the TPQ personality-factor scores, including reward dependence and its subscales. Our negative findings suggest that the investigated polymorphisms of the norepinephrine transporter and the ,2c adrenoceptor do not play a major role in the reward-dependence personality trait as assessed by TPQ. © 2002 Wiley-Liss, Inc. [source]

Role of inflammation-related gene polymorphisms in branch retinal vein occlusion

ACTA OPHTHALMOLOGICA, Issue 2009
M WEGER
Purpose Branch retinal vein occlusion (BRVO) is a common vision-threatening disease. Some cytokines have previously been shown to exert proatherogenic as well as prothrombotic effects. Gene polymorphisms affecting the expression of these cytokines are thus plausible candidates as risk factors for BRVO. The purpose of the present study was to investigate hypothesized associations between cytokine gene polymorphisms and the presence of BRVO. Methods The present case-control study comprised 398 patients with BRVO and 355 control subjects. Using 5`exonuclease assays (TaqMan), genotypes of the following single nucleotide polymorphisms were determined: interleukin 1 beta (IL1B) -511C>T, interleukin 1 receptor antagonist (IL1RN) 1018T>C, interleukin 4 (IL4) -584C>T, interleukin 6 (IL6) -174G>C, interleukin 10 (IL10) -592C>A, interleukin 18 (IL18) 183A>G, tumor necrosis factor (TNF) -308G>A, monocyte chemoattractant protein 1 (CCL2) -2518A>G, interleukin 8 (IL8) -251A>T and RANTES (CCL5) -403G>A. Results Neither genotype distributions nor allele frequencies of any of the investigated polymorphisms differed significantly between BRVO patients and control subjects (IL1B -511TT: 7.8% vs. 9.6%, p=0.68; IL1RN 1018CC: 12.1% vs. 13.5%, p=0.15, IL4 -584TT: 1.3% vs. 2.3%, p=0.58; IL6 -174CC: 17.8% vs.18.6%, p=0.97; IL10 -592AA: 5.3% vs. 9.0, p=0.14; IL18 183GG: 3.0 vs. 6.2%, p=0.11; TNF -308AA: 1.5% vs. 1.4%, p=0.95; CCL2 -2518GG: 6.5% vs. 4.5%, p=0.48; IL8 -251TT: 26.9% vs. 28.7%, p=0.23; CCL5 -403AA: 3.3% vs. 4.5%, p=0.63). Conclusion Our data suggest that none of the investigated cytokine gene polymorphisms is likely a major risk factor for BRVO. [source]

RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series

CLINICAL ENDOCRINOLOGY, Issue 3 2008
Laura Fugazzola
Summary Background, Highly discrepant data about the different distribution of RET germline single nucleotide polymorphisms (SNPs) among patients with sporadic medullary thyroid cancer (sMTC) and controls are available. Design and patients, In the present case-control study, a wide panel of seven RET SNPs has been tested in the largest sMTC series and in a matched control group. Results, None of the investigated polymorphisms show a significantly different distribution in patients with sMTC when compared to controls. Twenty haplotypes and 57 genotypes were generated, and their association with the disease and with the clinical features were statistically evaluated. Interestingly, 14 genotypes were found to be unique to sMTC patients and 25 to controls. Two haplotypes and three genotypes, all including the intronic variants IVS1-126 and IVS14-24, were significantly associated with sMTC patients and with a higher tumour aggression. The functional activity of the only nonsynonymous RET variant (c.2071C > A, G691S) was tested for the first time. Interestingly, Western blot analyses showed that the fraction of Ret9-G691S protein located at the plasma membrane level was overrepresented when compared to Ret9-WT, suggesting facilitated targeting at the cell membrane for this variant. However, no transforming activity was shown in a focus formation assay on cells carrying the Ret9-G691S, against a possible oncogenic role of G691S variant. Conclusions,RET genotypes including two intronic RET variants were associated with the risk of developing sMTC and to more aggressive behaviour. Further studies are warranted to elucidate whether these RET genotypes are in linkage disequilibrium with another susceptibility gene or whether these variants could play a role in the genesis of sMTC per se. [source]