|
rs10489177
|
C1orf112;METTL18
|
Ischemic stroke
|
|
0.010 |
GeneticVariation |
BEFREE |
Collectively, our study identified two novel loci (rs17118 and rs10489177) which were associated with an increased risk for IS in Chinese Han populations.
|
24122314 |
2014 |
|
rs10489177
|
C1orf112;METTL18
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs10489177 GG genotype was associated with significantly increased risk for IS in individuals without hypertension (OR = 2.78, 95 % CI = 1.59-4.86) and in individuals without diabetes (OR = 1.93, 95 % CI = 1.27-2.94).
|
24122314 |
2014 |
|
rs10489177
|
C1orf112;METTL18
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs10489177 GG genotype was associated with significantly increased risk for IS in individuals without hypertension (OR = 2.78, 95 % CI = 1.59-4.86) and in individuals without diabetes (OR = 1.93, 95 % CI = 1.27-2.94).
|
24122314 |
2014 |
|
rs10489177
|
C1orf112;METTL18
|
Hypertensive disease
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs10489177 GG genotype was associated with significantly increased risk for IS in individuals without hypertension (OR = 2.78, 95 % CI = 1.59-4.86) and in individuals without diabetes (OR = 1.93, 95 % CI = 1.27-2.94).
|
24122314 |
2014 |
|
rs1131498
|
SELL;C1orf112
|
Diabetes Mellitus
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of our study was to evaluate the frequency of the L-selectin gene T668C mutation (from thymine to cytosine at position 668) resulted in F206L an amino acid substitution in patients with overt diabetes and their unaffected first degree relatives in comparison to the unselected control population.
|
11064106 |
2000 |
|
rs1131498
|
SELL;C1orf112
|
Diabetes
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of our study was to evaluate the frequency of the L-selectin gene T668C mutation (from thymine to cytosine at position 668) resulted in F206L an amino acid substitution in patients with overt diabetes and their unaffected first degree relatives in comparison to the unselected control population.
|
11064106 |
2000 |
|
rs1131498
|
SELL;C1orf112
|
Celiac Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
No significant differences were observed in the F206L polymorphism of L-selectin, or the G241R and E469K polymorphisms in the ICAM-1 gene in CD.
|
16916660 |
2006 |
|
rs1131498
|
SELL;C1orf112
|
Brucellosis
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant difference in F206L polymorphism was found between patients with brucellosis and controls.
|
16585636 |
2006 |
|
rs1131498
|
SELL;C1orf112
|
Periodontitis
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to investigate the genetic association between the E-selectin Ser128Arg and L-selectin Phe206Leu polymorphisms and periodontitis.
|
18973547 |
2009 |
|
rs1131498
|
SELL;C1orf112
|
Coronary heart disease
|
|
0.010 |
GeneticVariation |
BEFREE |
No association was found between the severity of coronary artery disease and the L-selectin Phe206Leu polymorphism.
|
16357481 |
2006 |
|
rs1131498
|
SELL;C1orf112
|
Ulcerative Colitis
|
|
0.010 |
GeneticVariation |
BEFREE |
Subgroup analysis showed that the L206 allele and F/L206 genotype frequencies were significantly increased in UC patients with left-sided type; whereas, the F/L206 genotype was significant in CD patients with ileocolonic location and stricturing behavior compared with controls.
|
19212205 |
2009 |
|
rs1131498
|
SELL;C1orf112
|
Tuberculosis
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on the findings, the incidence of TB and L-selectin polymorphism in the Phe206Leu gene had no significant association.
|
29430726 |
2018 |
|
rs1131498
|
SELL;C1orf112
|
Asthma
|
|
0.010 |
GeneticVariation |
BEFREE |
No association was found between F206L polymorphism of L-selectin with asthma.
|
24798295 |
2015 |
|
rs1131498
|
SELL;C1orf112
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
It was also shown that there is an association between T668C mutation and low HLA related risk of IDDM development, the highest frequency of F206L mutation in the EGF domain of L-selectin was observed in relatives with 'protective' HLA DQB1*0602 allele and nonDRB1*03-nonDRB1*04 haplotype, while in subjects with highest risk of IDDM haplotype the frequency of T668C mutation was similar to the controls.
|
11064106 |
2000 |
|
rs1131498
|
SELL;C1orf112
|
Coronary Artery Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
No association was found between the severity of coronary artery disease and the L-selectin Phe206Leu polymorphism.
|
16357481 |
2006 |
|
rs1131498
|
SELL;C1orf112
|
Coronary Arteriosclerosis
|
|
0.010 |
GeneticVariation |
BEFREE |
No association was found between the severity of coronary artery disease and the L-selectin Phe206Leu polymorphism.
|
16357481 |
2006 |
|
rs1131498
|
SELL;C1orf112
|
Myocardial Infarction
|
|
0.010 |
GeneticVariation |
BEFREE |
In order to find new informative predictors of myocardial infarction, we performed an analysis of genotype frequencies of polymorphic markers of SELE (rs2076059, 3832T > C), SELP (rs6131, S290 N), SELL (rs1131498, F206L), ICAM1 (rs5498, K469E), VCAM1 (rs3917010, c.928 + 420A > C), PECAM1 (rs668, V125L), VEGFA (rs35569394, -2549(18)I/D), CCL2 (rs1024611, -2518A > G), NOS3 (rs1799983, E298D), and DDAH1 (rs669173, c.303 + 30998A > G) genes in the group of Russian men with myocardial infarction (N = 315) and the control group of corresponding ethnicity, gender, and age (N = 286).
|
26662939 |
2016 |
|
rs12122803
|
C1orf112
|
Venous Thromboembolism
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.
|
31420334 |
2019 |
|
rs12132692
|
SELE;C1orf112;LOC101928628
|
Age at menopause
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs12938
|
SELL;C1orf112
|
Vascular Diseases
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified increased levels of soluble L-selectin (sL-selectin), but not soluble E-selectin (sE-selectin) in 278 European-Caucasian lupus patients compared to 230 healthy siblings (P=0.002). sL-selectin levels were markedly elevated in patients with IgG antiphospholipid autoantibodies (P=0.002), suggesting that perhaps sL-selectin defines a subgroup of lupus with vasculopathy. sL-selectin level was also influenced by two L-selectin polymorphisms: 665C>T, F206L in the epidermal growth factor-like domain (P=0.015) and rs12938 in the 3'-untranslated region (P=0.06).
|
15902275 |
2005 |
|
rs12938
|
SELL;C1orf112
|
Lupus Erythematosus
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified increased levels of soluble L-selectin (sL-selectin), but not soluble E-selectin (sE-selectin) in 278 European-Caucasian lupus patients compared to 230 healthy siblings (P=0.002). sL-selectin levels were markedly elevated in patients with IgG antiphospholipid autoantibodies (P=0.002), suggesting that perhaps sL-selectin defines a subgroup of lupus with vasculopathy. sL-selectin level was also influenced by two L-selectin polymorphisms: 665C>T, F206L in the epidermal growth factor-like domain (P=0.015) and rs12938 in the 3'-untranslated region (P=0.06).
|
15902275 |
2005 |
|
rs12938
|
SELL;C1orf112
|
Lupus Erythematosus, Systemic
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified increased levels of soluble L-selectin (sL-selectin), but not soluble E-selectin (sE-selectin) in 278 European-Caucasian lupus patients compared to 230 healthy siblings (P=0.002). sL-selectin levels were markedly elevated in patients with IgG antiphospholipid autoantibodies (P=0.002), suggesting that perhaps sL-selectin defines a subgroup of lupus with vasculopathy. sL-selectin level was also influenced by two L-selectin polymorphisms: 665C>T, F206L in the epidermal growth factor-like domain (P=0.015) and rs12938 in the 3'-untranslated region (P=0.06).
|
15902275 |
2005 |
|
rs12938
|
SELL;C1orf112
|
Lupus Vulgaris
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified increased levels of soluble L-selectin (sL-selectin), but not soluble E-selectin (sE-selectin) in 278 European-Caucasian lupus patients compared to 230 healthy siblings (P=0.002). sL-selectin levels were markedly elevated in patients with IgG antiphospholipid autoantibodies (P=0.002), suggesting that perhaps sL-selectin defines a subgroup of lupus with vasculopathy. sL-selectin level was also influenced by two L-selectin polymorphisms: 665C>T, F206L in the epidermal growth factor-like domain (P=0.015) and rs12938 in the 3'-untranslated region (P=0.06).
|
15902275 |
2005 |
|
rs12938
|
SELL;C1orf112
|
Lupus Erythematosus, Discoid
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified increased levels of soluble L-selectin (sL-selectin), but not soluble E-selectin (sE-selectin) in 278 European-Caucasian lupus patients compared to 230 healthy siblings (P=0.002). sL-selectin levels were markedly elevated in patients with IgG antiphospholipid autoantibodies (P=0.002), suggesting that perhaps sL-selectin defines a subgroup of lupus with vasculopathy. sL-selectin level was also influenced by two L-selectin polymorphisms: 665C>T, F206L in the epidermal growth factor-like domain (P=0.015) and rs12938 in the 3'-untranslated region (P=0.06).
|
15902275 |
2005 |
|
rs1458766475
|
SELE;C1orf112
|
Coronary heart disease
|
|
0.090 |
GeneticVariation |
BEFREE |
The interaction of classical risk factors for CAD with S128R polymorphism in our study population showed that the significant determinants of coronary artery disease were presence of diabetes, hypertension, smoking habit, elevated serum triglycerides and low HDL.
|
19942746 |
2009 |