|
rs111033560
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs116928232
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs730880082
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The present study evaluated the plasma Hcy level, MTHFR C677T gene polymorphism, effect of folic acid (FA) supplementation' and hemato-biochemical parameters in SCA and their effect on the vaso-occlusive crisis (VOC) in SCA patients of an Asian-Indian haplotype population.
|
31440871 |
2019 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; c. 677C>T) and cystathionine β-synthase (CBS; 844ins68) polymorphisms on overall oxidative status of sickle cell anemia (SCA) patients and on routine markers, correlating them with hydroxycarbamide (HC) treatment.
|
28188925 |
2017 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The polymorphism MTHFR C677T seemed to be possibly predictive for the development of some vascular complications in SCA patients among this population.
|
22924497 |
2012 |
|
rs8175347
|
|
|
0.020 |
GeneticVariation |
BEFREE |
(TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations.
|
31619193 |
2019 |
|
rs11886868
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Interestingly, the C allele of the rs11886868 and the A allele of the rs46713939 were associated with an ameliorated phenotype in patient's SCA.
|
27077760 |
2016 |
|
rs11886868
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This study confirms that the T/C variant (rs11886868) of the BCL11A gene causing downregulation of BCL11A gene expression in adult erythroid precursors results in the induction of HbF and ameliorates the severity of β-thalassaemia as well as SCA.
|
27377501 |
2016 |
|
rs8175347
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Indeed, this is the first report that interested in the study of polymorphisms in genes encoded for enzymes involved in the bilirubin metabolism: rs 4149056 of SLCO1B1 and rs4149000 of SLCO1A2 in combination with rs8175347 and rs887829 of UGT1A1 in order to find a correlation between the polymorphisms studied and the presence of gallstones in a population of sickle cell anemia (SCA) pediatric Tunisians.
|
26146896 |
2016 |
|
rs11567847
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A mutation in the TEAD1 gene, Tyr421His, has been identified in patients suffering from Sveinsson's chorioretinal atrophy (SCA), an autosomal dominant eye disease.
|
30903741 |
2019 |
|
rs12720459
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PSMi001-A was derived from an asymptomatic KCNQ1-A341V mutation carrier, whereas PSMi008-A was derived from a healthy non-mutation carrier, heterozygous for the minor variant rs16847548 on the NOS1AP gene, associated with QT prolongation in the general population, and with a greater risk for cardiac arrest in the affected members of the SA founder population.
|
31398660 |
2019 |
|
rs16847548
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PSMi001-A was derived from an asymptomatic KCNQ1-A341V mutation carrier, whereas PSMi008-A was derived from a healthy non-mutation carrier, heterozygous for the minor variant rs16847548 on the NOS1AP gene, associated with QT prolongation in the general population, and with a greater risk for cardiac arrest in the affected members of the SA founder population.
|
31398660 |
2019 |
|
rs35829419
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The genotypes C/C (IL18 -137G/C) and C/A (NLRP3, rs35829419) appear to be risk factors for SCA disease (IL18: G/G vs C/C OR=103.500 [95% CI: 8.32-1287.79, p<0.00001]; IL18: G/G vs G/C OR=7.360 [95% CI: 0.85-63.48, p=0.040]; IL18: G/G vs CC+CG OR=14.481 [95% CI: 1.79-117.32, p=0.002; NLRP3: C/C vs C/A: OR=10.967 [95% CI: 2.41-49.89, p=0.0004]).
|
31448710 |
2019 |
|
rs3734960
|
|
|
0.010 |
GeneticVariation |
BEFREE |
L747P) in DPP6 in 4 Chinese families with sudden cardiac arrest induced by ERS.
|
31476289 |
2019 |
|
rs786205753
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We studied a five-generation family, in which a CACNA1C variant c.2573G>A p.Arg858His co-segregates with syncope and cardiac arrest, documenting electrocardiographic data and cardiac symptomatology.
|
30345660 |
2019 |
|
rs120074192
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This suggests that the KCNQ1 S140G mutation increases the risk of death by sudden cardiac arrest.
|
30108508 |
2018 |
|
rs192749597
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The sixth C-terminal variant, Ca<sub>v</sub>α<sub>1c</sub>-T1787M, present mostly in the African population, was identified in two patients with resuscitated cardiac arrest.
|
30279520 |
2018 |
|
rs1427407
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Alpha-thalassemia and the <i>BCL11A</i> rs1427407 T allele are commonly observed in sickle cell anemia (SCA) patients and are associated with reduced hemolysis and higher hemoglobin F levels, respectively.
|
28868518 |
2017 |
|
rs1805123
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the subgroup of carriers with syncope and/or cardiac arrest (n=10, 90% women), K897T-KCNH2 polymorphism (p=0.02), periodic paralysis (p=0.004), muscle weakness (p=0.04), palpitations (p=0.04), arrhythmias (biventricular VT, p=0.003; polymorphic VT, p=0.009) were observed more frequently.
|
28336205 |
2017 |
|
rs755221106
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, Japanese and French families with SCA type 42 (SCA42) were found to have a missense mutation (c.5144G>A; R1715H) in CACNA1G.
|
28490766 |
2017 |
|
rs767910122
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the subgroup of carriers with syncope and/or cardiac arrest (n=10, 90% women), K897T-KCNH2 polymorphism (p=0.02), periodic paralysis (p=0.004), muscle weakness (p=0.04), palpitations (p=0.04), arrhythmias (biventricular VT, p=0.003; polymorphic VT, p=0.009) were observed more frequently.
|
28336205 |
2017 |
|
rs777919630
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; c. 677C>T) and cystathionine β-synthase (CBS; 844ins68) polymorphisms on overall oxidative status of sickle cell anemia (SCA) patients and on routine markers, correlating them with hydroxycarbamide (HC) treatment.
|
28188925 |
2017 |
|
rs794728448
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the subgroup of carriers with syncope and/or cardiac arrest (n=10, 90% women), K897T-KCNH2 polymorphism (p=0.02), periodic paralysis (p=0.004), muscle weakness (p=0.04), palpitations (p=0.04), arrhythmias (biventricular VT, p=0.003; polymorphic VT, p=0.009) were observed more frequently.
|
28336205 |
2017 |
|
rs1805323
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In individual SNP analysis, we found significant associations for rs3512 in FAN1 with HD+SCAs (p = 1.52 × 10(-5) ) and all SCAs (p = 2.22 × 10(-4) ) and rs1805323 in PMS2 with HD+SCAs (p = 3.14 × 10(-5) ), all in the same direction as in the HD GWAS.
|
27044000 |
2016 |