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rs387907168
|
HSD11B1;HSD11B1-AS1
|
CORTISONE REDUCTASE DEFICIENCY 2
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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rs846910
|
HSD11B1;HSD11B1-AS1
|
Hypertensive disease
|
|
0.010 |
GeneticVariation |
BEFREE |
In multivariate mixed models assuming an additive effect of genotype, a 5' upstream variant (rs846910) was associated with blood pressure (diastolic blood pressure beta=1.58 mm Hg per copy of the A allele, P=0.0008; systolic blood pressure beta=2.28 mm Hg per copy of the A allele, P=0.004; mean arterial blood pressure beta=1.83 mm Hg per copy of the A allele, P=0.0006) and hypertension (odds ratio=1.27 per copy of the A allele, P=0.02).
|
15452033 |
2004 |
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rs12086634
|
HSD11B1;HSD11B1-AS1
|
Cognitive changes
|
|
0.010 |
GeneticVariation |
BEFREE |
We tested the hypothesis that this and 2 other HSD11B1 polymorphisms (rs12086634-G/T and rs846910-A/G) were associated with lifetime cognitive change in humans.
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16236446 |
2006 |
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rs846910
|
HSD11B1;HSD11B1-AS1
|
Cognitive changes
|
|
0.010 |
GeneticVariation |
BEFREE |
We tested the hypothesis that this and 2 other HSD11B1 polymorphisms (rs12086634-G/T and rs846910-A/G) were associated with lifetime cognitive change in humans.
|
16236446 |
2006 |
|
rs846911
|
HSD11B1;HSD11B1-AS1
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
A rare polymorphism in the gene encoding 11B-hydroxysteroid dehydrogenase type 1 (HSD11B1: rs846911-C/A) has been associated with an increased risk of Alzheimer's disease.
|
16236446 |
2006 |
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rs12086634
|
HSD11B1;HSD11B1-AS1
|
Polycystic Ovary Syndrome
|
|
0.030 |
GeneticVariation |
BEFREE |
Our objective was to investigate a functional polymorphism in HSD11B1 (T-->G in the third intron rs12086634, which associates with lower 11beta-HSD1 activity) in PCOS with and without obesity.
|
16551740 |
2006 |
|
rs12086634
|
HSD11B1;HSD11B1-AS1
|
Obesity
|
|
0.010 |
GeneticVariation |
BEFREE |
Our objective was to investigate a functional polymorphism in HSD11B1 (T-->G in the third intron rs12086634, which associates with lower 11beta-HSD1 activity) in PCOS with and without obesity.
|
16551740 |
2006 |
|
rs12086634
|
HSD11B1;HSD11B1-AS1
|
Polycystic Ovary Syndrome
|
|
0.030 |
GeneticVariation |
BEFREE |
Case-control analyses revealed no differences in genotype distribution between PCOS and controls for rs12086634 or rs6688832 (both P = 0.84).
|
16817821 |
2006 |
|
rs12086634
|
HSD11B1;HSD11B1-AS1
|
Cone-Rod Dystrophy 2
|
|
0.010 |
GeneticVariation |
BEFREE |
All subjects were genotyped for CRD-related variants in HSD11B1 (rs12086634) and H6PD (rs6688832).
|
16817821 |
2006 |
|
rs11807619
|
HSD11B1;HSD11B1-AS1
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Two out of five tagging SNPs in HSD11B1 were associated with breast cancer (rs11807619, P = 0.006; rs932335, P = 0.0001). rs11807619 and rs932335 were highly correlated (r2 = 0.74) and, when modeled as a haplotype, only haplotypes containing the rs932335 C allele were associated with breast cancer.
|
18611262 |
2008 |
|
rs11807619
|
HSD11B1;HSD11B1-AS1
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation |
BEFREE |
Two out of five tagging SNPs in HSD11B1 were associated with breast cancer (rs11807619, P = 0.006; rs932335, P = 0.0001). rs11807619 and rs932335 were highly correlated (r2 = 0.74) and, when modeled as a haplotype, only haplotypes containing the rs932335 C allele were associated with breast cancer.
|
18611262 |
2008 |
|
rs932335
|
HSD11B1;HSD11B1-AS1
|
Breast Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Two out of five tagging SNPs in HSD11B1 were associated with breast cancer (rs11807619, P = 0.006; rs932335, P = 0.0001). rs11807619 and rs932335 were highly correlated (r2 = 0.74) and, when modeled as a haplotype, only haplotypes containing the rs932335 C allele were associated with breast cancer.
|
18611262 |
2008 |
|
rs932335
|
HSD11B1;HSD11B1-AS1
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation |
BEFREE |
Two out of five tagging SNPs in HSD11B1 were associated with breast cancer (rs11807619, P = 0.006; rs932335, P = 0.0001). rs11807619 and rs932335 were highly correlated (r2 = 0.74) and, when modeled as a haplotype, only haplotypes containing the rs932335 C allele were associated with breast cancer.
|
18611262 |
2008 |
|
rs12086634
|
HSD11B1;HSD11B1-AS1
|
Metabolic Syndrome X
|
|
0.040 |
GeneticVariation |
BEFREE |
We conclude that, in a population of Southern European Caucasian women with and without PCOS, alleles of HSD11B1 containing the two SNPs rs846910 A and rs12086634 T confer increased 11β-HSD1 expression and activity, which associates with the metabolic syndrome.
|
21622477 |
2011 |
|
rs12086634
|
HSD11B1;HSD11B1-AS1
|
Polycystic Ovary Syndrome
|
|
0.030 |
GeneticVariation |
BEFREE |
Women who were heterozygous for rs846910 A and homozygous for rs12086634 T (GA, TT genotype) had a higher risk of metabolic syndrome, regardless of the diagnosis of PCOS (odds ratio in the whole cohort=2.77 (95% confidence interval (CI) 1.16-6.67), P=0.023).
|
21622477 |
2011 |
|
rs846910
|
HSD11B1;HSD11B1-AS1
|
Metabolic Syndrome X
|
|
0.020 |
GeneticVariation |
BEFREE |
We conclude that, in a population of Southern European Caucasian women with and without PCOS, alleles of HSD11B1 containing the two SNPs rs846910 A and rs12086634 T confer increased 11β-HSD1 expression and activity, which associates with the metabolic syndrome.
|
21622477 |
2011 |
|
rs846910
|
HSD11B1;HSD11B1-AS1
|
Polycystic Ovary Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
Women who were heterozygous for rs846910 A and homozygous for rs12086634 T (GA, TT genotype) had a higher risk of metabolic syndrome, regardless of the diagnosis of PCOS (odds ratio in the whole cohort=2.77 (95% confidence interval (CI) 1.16-6.67), P=0.023).
|
21622477 |
2011 |
|
rs12086634
|
HSD11B1;HSD11B1-AS1
|
Metabolic Syndrome X
|
|
0.040 |
GeneticVariation |
BEFREE |
HSD11B1 polymorphisms (rs12086634 and rs1000283) were associated with metabolic syndrome among type 2 diabetic subjects and an H6PD polymorphism (rs17368528) was a risk factor for metabolic syndrome in nondiabetic subjects.
|
21869537 |
2011 |
|
rs12086634
|
HSD11B1;HSD11B1-AS1
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.020 |
GeneticVariation |
BEFREE |
The association of common SNPs in HSD11B1 [IVS3-29G/T (rs12086634), IVS4-11120A/G (rs1000283)] and H6PD [R453Q (rs6688832), P554L (rs17368528)], either separately or combined, with type 2 diabetes and metabolic syndrome was examined in 427 Korean subjects with type 2 diabetes and in 358 nondiabetic Korean subjects.
|
21869537 |
2011 |
|
rs1000283
|
HSD11B1;HSD11B1-AS1
|
Metabolic Syndrome X
|
|
0.010 |
GeneticVariation |
BEFREE |
HSD11B1 polymorphisms (rs12086634 and rs1000283) were associated with metabolic syndrome</span> among type 2 diabetic subjects and an H6PD polymorphism (rs17368528) was a risk factor for metabolic syndrome in nondiabetic subjects.
|
21869537 |
2011 |
|
rs1000283
|
HSD11B1;HSD11B1-AS1
|
Diabetes Mellitus, Non-Insulin-Dependent
|
|
0.010 |
GeneticVariation |
BEFREE |
The association of common SNPs in HSD11B1 [IVS3-29G/T (rs12086634), IVS4-11120A/G (rs1000283)] and H6PD [R453Q (rs6688832), P554L (rs17368528)], either separately or combined, with type 2 diabetes and metabolic syndrome was examined in 427 Korean subjects with type 2 diabetes and in 358 nondiabetic Korean subjects.
|
21869537 |
2011 |
|
rs3753519
|
HSD11B1;HSD11B1-AS1
|
Obesity
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel SNP, rs3753519, was strongly associated with obesity and this SNP was the only statistically significant HSD11B1 gene SNP remaining after a Bonferroni correction (odds ratio=1.97 for allelic effect, 95% confidence interval 1.23-3.16; P=0.004 and Bonferroni corrected P=0.046).
|
22310475 |
2012 |
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rs4844880
|
HSD11B1;HSD11B1-AS1
|
Osteoporosis, Postmenopausal
|
|
0.010 |
GeneticVariation |
BEFREE |
Of these SNPs, the rs4844880 was genotyped in 154 women with postmenopausal osteoporosis.
|
22986073 |
2012 |
|
rs2235543
|
HSD11B1;HSD11B1-AS1
|
Pregnancy associated hypertension
|
|
0.010 |
GeneticVariation |
BEFREE |
The T-A haplotype constructed by rs2235543-rs846910 was also a useful susceptibility marker for PIH and PE.
|
23659736 |
2013 |
|
rs846910
|
HSD11B1;HSD11B1-AS1
|
Pregnancy associated hypertension
|
|
0.010 |
GeneticVariation |
BEFREE |
The T-A haplotype constructed by rs2235543-rs846910 was also a useful susceptibility marker for PIH and PE.
|
23659736 |
2013 |