|
rs397507444
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Our findings suggest a strong association between maternal MTHFR A1298C and risk of TS in Egypt.
|
26217949 |
2015 |
|
rs397507444
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS.
|
25858821 |
2015 |
|
rs397507444
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The results suggest that the C677T and A1298C polymorphisms of the MTHFR gene are not related to homocysteine levels in Brazilian patients with TS, despite the differential distribution of the mutated allele C (A1298C) in these patients.
|
22283972 |
2012 |
|
rs397507444
|
|
|
0.040 |
GeneticVariation |
BEFREE |
As for polymorphism A1298C, the patients with Turner Syndrome and chromosome mosaicism presented genotypes 1298AA, 1298AC and 1298CC at the following frequencies: 58.3%, 27.8% and 13.9%, respectively.
|
19169497 |
2008 |
|
rs2476601
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS.
|
30508004 |
2020 |
|
rs2476601
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our data showed that PTPN22 C1858T (considered a risk variant) is not associated with TS (X<sup>2</sup> = 3.50, p = .61, and OR = 0.33 [95% CI = 0.10-1.10]).
|
28627089 |
2017 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
There were no significant differences in C677T genotype distribution between the TS mothers and controls (p=1).
|
26217949 |
2015 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The results suggest that the C677T and A1298C polymorphisms of the MTHFR gene are not related to homocysteine levels in Brazilian patients with TS, despite the differential distribution of the mutated allele C (A1298C) in these patients.
|
22283972 |
2012 |
|
rs2476601
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Genotypes CC, CT and TT of the PTPN22 C1858T polymorphism presented frequencies of, respectively, 67.6%, 28.2% and 4.2% in the TS, and 82.8%, 16.1% and 1.1% in the control group (P = 0.0043).
|
20696024 |
2010 |
|
rs1217691063
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients.
|
19169497 |
2008 |
|
rs7055196
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Previous studies of X-monosomic women with Turner syndrome suggest a genetic association with facial fear recognition abilities at Xp11.3, specifically at a single nucleotide polymorphism (SNP rs7055196) within the EFHC2 gene.
|
26107779 |
2015 |
|
rs7055196
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A recent study by these same workers found evidence for association of a SNP in the EFHC2 gene, rs7055196, within this interval with fear recognition in 45,X TS.
|
17948898 |
2008 |
|
rs11003125
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS.
|
30508004 |
2020 |
|
rs231775
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS.
|
30508004 |
2020 |
|
rs7096206
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS.
|
30508004 |
2020 |
|
rs2234693
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome.
|
31671406 |
2019 |
|
rs2305767
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, for the first time, rs2305767 MYO9B was revealed to have a strong association with TS (X<sup>2 </sup> = 58.6, p = .0001, and OR = 10.44 [95% C = 5.51-19.80]), supporting a high level of predisposition to CD among TS patients.
|
28627089 |
2017 |
|
rs201340156
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This revealed a novel and likely pathogenic missense variant (p.Arg130Pro, c.389G>C) in SRY, one of the major genes implicated in complete gonadal dysgenesis, hence securing this condition over androgen insensitivity syndrome as the cause of the patient's disorder of sexual development.
|
27821113 |
2016 |
|
rs1039659576
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS.
|
25858821 |
2015 |
|
rs1389990700
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS.
|
25858821 |
2015 |
|
rs1448674651
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS.
|
25858821 |
2015 |
|
rs1805087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The polymorphisms MTHFR 677C>T and 1298A>C, MTR 2756A>G, RFC1 80G>A, and TYMS 2R/3R-alone or in combinations-were not associated with the risk of chromosomal aneuploidy in TS.
|
25858821 |
2015 |
|
rs3782415
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SOCS2 polymorphism (rs3782415) has an influence on the adult height of children with TS and GHD after long-term rhGH therapy.
|
24905066 |
2014 |
|
rs2854744
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GHR-exon 3 and -202 A/C IGFBP3 genotyping (rs2854744) was correlated with height data of 112 patients with TS who remained prepubertal during the first year of rhGH therapy and 65 patients who reached adult height after 5 ± 2.5 yr of rhGH treatment.
|
22278433 |
2012 |
|
rs121918655
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.
|
20453312 |
2010 |