|
rs267607591
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We previously reported the first Japanese case of APS/AWS with a LMNA mutation (p.D300N).
|
27539898 |
2016 |
|
rs267607591
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N).
|
25327215 |
2014 |
|
rs7574865
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The overall odds ratios for rs7574865 T-allele significantly increased in SLE, RA, T1D, SSc, JIA, and APS (OR = 1.56, 1.25, 1.13, 1.34, 1.25, and 2.15, respectively, P < 0.00001) and in IBD-UC and pSS (OR = 1.11 and 1.33, respectively, P < 0.05).
|
22714917 |
2012 |
|
rs7574865
|
|
|
0.020 |
GeneticVariation |
BEFREE |
STAT4 and BLK displayed a strong genetic association with primary APS (for rs7574865, odds ratio [OR] 2.19, P=5.17x10(-7); for rs2736340, OR 2.06, P=1.78x10(-6)), while a weak association with IRF5 and no association with BANK1 were observed.
|
19644876 |
2009 |
|
rs104895461
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation analysis excluded idiopathic infantile hypercalcemia, type 1, and known forms of OPT, and identified a heterozygous germline missense mutation in NOD2 common in PGA (c.1001G>A, p.Arg334Gln).
|
29933504 |
2018 |
|
rs57077886
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with the heterozygous LMNA p.T10I mutation have distinct clinical features and significantly worse metabolic complications compared with other patients with APS as well as patients with Hutchinson-Gilford progeria syndrome.
|
29267953 |
2018 |
|
rs2288493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One SNP (rs2288493) located on the 3'-UTR of TSHR showed an experiment-wide significant APS association (P=7.85E-08, OR=6.18) under a recessive model after Bonferroni correction considering the number of analyzed SNPs.
|
28424481 |
2017 |
|
rs662
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicated that the PON1 L55M polymorphism associated with SLE and associated APS in a population from Cairo of Egypt, while the Q192R polymorphism plays no role in disease susceptibility.
|
28185016 |
2017 |
|
rs79154414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Another SNP (rs79154414) located around the C1D showed a genome-wide significant APS association (P=4.84E-08, OR=6.20) under an allelic model after applying the SNP imputation.
|
28424481 |
2017 |
|
rs854560
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicated that the PON1 L55M polymorphism associated with SLE and associated APS in a population from Cairo of Egypt, while the Q192R polymorphism plays no role in disease susceptibility.
|
28185016 |
2017 |
|
rs1469042326
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N).
|
25327215 |
2014 |
|
rs3765187
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Minor allele carrier of rs3765187 was less frequent in patients with APS (3.8% p=0.032), but not in patients with SLE in the absence of APS (7.9% p=0.32), compared with healthy subjects (10.2%).
|
23817509 |
2013 |
|
rs4581
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Eight previous studies analyzed the association of APS, anti-β(2)-GPI antibodies and/or thrombosis with the Val247Leu polymorphism.
|
22246055 |
2012 |
|
rs763361
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The role of a nonsynonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Ser) in isolated Addison's disease and autoimmune polyendocrinopathy type 2 pathogenesis.
|
21521299 |
2011 |
|
rs1316724604
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The presence of factor V Leiden G506A (FVL) mutation was significantly higher in APS patients with thrombosis compared to healthy controls (11.2% versus 4.9%, P = 0.0043).
|
19504051 |
2010 |
|
rs1801689
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Ser88Asn, Cys306Gly and Trp316Ser SNPs were not risk factors for APS in leprosy.
|
20140737 |
2010 |
|
rs1801690
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Ser88Asn, Cys306Gly and Trp316Ser SNPs were not risk factors for APS in leprosy.
|
20140737 |
2010 |
|
rs1801692
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Ser88Asn, Cys306Gly and Trp316Ser SNPs were not risk factors for APS in leprosy.
|
20140737 |
2010 |
|
rs777417437
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The presence of factor V Leiden G506A (FVL) mutation was significantly higher in APS patients with thrombosis compared to healthy controls (11.2% versus 4.9%, P = 0.0043).
|
19504051 |
2010 |
|
rs104895477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a case of PGA in a 6-year-old girl with the NOD2 E383K gene substitution.
|
19479836 |
2009 |
|
rs2736340
|
|
|
0.010 |
GeneticVariation |
BEFREE |
STAT4 and BLK displayed a strong genetic association with primary APS (for rs7574865, odds ratio [OR] 2.19, P=5.17x10(-7); for rs2736340, OR 2.06, P=1.78x10(-6)), while a weak association with IRF5 and no association with BANK1 were observed.
|
19644876 |
2009 |
|
rs1369837875
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The T/T genotype of 807 C/T polymorphism of GP Ia/IIa may be an additional risk for the development of arterial thrombosis in APS.
|
17728329 |
2008 |
|
rs4986791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Human tlr4 Asp299Gly and Thr399Ile polymorphisms were evaluated by allele-specific PCR in 110 patients with APS with arterial/venous thrombosis and in 220 controls of the same ethnic origin.
|
17261530 |
2007 |