ABCA1 p.Arg587Lys
| Predicted by SNAP2: | A: D (66%), C: D (71%), D: D (85%), E: D (80%), F: D (75%), G: D (75%), H: D (66%), I: D (71%), K: D (59%), L: D (71%), M: D (63%), N: D (75%), P: D (85%), Q: D (71%), S: D (75%), T: D (71%), V: D (71%), W: D (80%), Y: D (71%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, S: D, T: D, V: D, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Is dyslipidemia sustained during remission of neph... Pol Arch Med Wewn. 2009 Jan-Feb;119(1-2):11-6. Ksiazek J, Ciechanowicz A, Wierzbicka A, Syczewska M, Grenda R
Is dyslipidemia sustained during remission of nephrotic syndrome genetically determined? Evaluation of genetic polymorphisms of proteins involved in lipoprotein metabolism in children and adolescents with nephrotic syndrome.
Pol Arch Med Wewn. 2009 Jan-Feb;119(1-2):11-6., [PMID:19341173]
Abstract [show]
INTRODUCTION: In same patients lipid profile disturbances persist during nephrotic syndrome remission. OBJECTIVES: The aim of the study was to evaluate the impact of the genetic polymorphisms of proteins involved in lipoprotein metabolism on persistent abnormal lipid profile in patients with nephrotic syndrome during remission. PATIENTS AND METHODS: 50 patients aged between 5.8 and 16.6 years (mean age 10.45 +/- 3.04) with nephrotic syndrome in remission of at least 8 weeks' duration, including 12 steroid-resistant and 38 steroid-dependent cases, participated in the study. We evalauated associations between lipid profile and genetic polymorphisms, V771M, V8251, and R1587K of the gene encoding the cassette ABCA1 (adenosine triphosphate binding cassette transporter A1) protein synthesis, a E3 polymorphism of the gene encoding the type upsilon of apolipoprotein E (apoE) synthesis and that of the gene encoding the cholesterol ester transfer protein (CETP) synthesis. RESULTS: Dyslipidemia was observed in 10/13 (76.9%) patients with V8251 polymorphism vs. 27/37 (73%) of non-carriers, and in 16/21 (76.2%) patients with R1587K polymorphism vs. 21/29 (72.4%) in the remaining subjects. V771M polymorphism was found only in 2 (4%) patients and one subject had abnormal lipid profile. In the presence of CETP gene polymorphism, hiperlipoproteinemia was detected in 22/31 (71%) vs. 15/19 (78.9%) in the remaining cases. The epsilon3epsilon3 apoE genotype (observed most commonly in the healthy population) was found in the majority (n=35; 70%) of patients. This genotype was also seen in most patients with abnormal serum lipid profile (in 26/37; 70.3%). Analysis of the whole population (ANOVA) did not show significant correlations between parameters of lipid profile and any of the polymorphisms studied. CONCLUSIONS: The study did not confirm associations between genetic polymorphisms of ABCA1 transporter, CETP and apoE and abnormal serum lipid profile during remission of nephrotic syndrome.
Comments [show]
None has been submitted yet.
No. Sentence Comment
81 The number and distribution of specific gene polymorphisms of ABCA1 are presented Table 4ߓ Distribution of significant (compared to reference data) lipid abnormalities in subgroups of patients divided with regard to ABCA1 genetic polymorphisms Polymorphism Disturbances V771M nߙ=ߙ2 (4%) V825I nߙ=ߙ13 (26%) R1587K nߙ=ߙ21 (42%) V8251ߙ+ߙR1587K nߙ=ߙ9 (18%) GA nߙ=ߙ2 AA GA nߙ=ߙ12 AA nߙ=ߙ1 GA nߙ=ߙ17 AA nߙ=ߙ4 GAߛGA nߙ=ߙ7 GAߛAA nߙ=ߙ2 TC - - 1 - 2 - 1 - TCߙ+ߙ TG 1 - 2 - 3 1 2 2 TCߙ+ߙ TGߙ+ߙ HDLߛC - - 2 - 4 1 1 - TCߙ+ߙ HDLߛC - - 1 - - 1 - - TGߙ+ߙ HDLߛC - - 1 - 1 1 - ߙ+ߙ HDLߛC - - 2 1 2 1 1 - Overall 1 50% - 10 76.9% 16 76.2% 7 77.8% No disturbances 1 50% - 3 23.1% 5 33.8% 2 22.2% Abbreviations: AA, GA, GG - variants of polymorphism of ABCA1 gene, HDLߛC - fraction HDL of cholesterol, TC - total cholesterol, ߓ TG - triglycerides, V771M, V825I, R587K - nonߛsynonymous single nucleotide polymorphisms of ABCA1 cassette gene Table 5ߓ Distribution of significant (compared to reference data) lipid abnormalities in subgroups of patients divided with regard to CETP gene polymorphisms Polymorphism Disturbances GA variant nߙ=ߙ25 (50%) AA variant nߙ=ߙ6 (12%) TCߙ+ߙTG 3 2 TCߙ+ߙTGߙ+ߙ HDLߛC 3 2 TGߙ+ߙ HDLߛC 1 - TCߙ+ߙ HDLߛC 1 - TC 4 1 - HDLߛC 4 1 Overall 22/31 71% No lipid disturbances 9/31 29% Abbreviations: AA, GA, GG - variants of polymorphism of the gene, HDLߛC - fraction HDL of cholesterol, TC - total cholesterol, TG - triglycerides was a nonߛsignificant trend (pߙ=ߙ0.067) in terms of association between the triglyceride level and R1587K genotype.
X
ABCA1 p.Arg587Lys 19341173:81:1192
status: NEW