KLB, klotho beta, 152831

N. diseases: 53; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.320 GeneticVariation disease BEFREE <i>KLB</i> rs7674434 and rs12152703 had associations with alanine aminotransferase (ALT) (<i>P</i> = 0.03 and <i>P</i> = 0.04, respectively) and gamma-glutamyltransferase (<i>P</i> = 0.03 and <i>P</i> = 0.02, respectively) levels in all subjects, but the associations were especially strong with ALT in the NAFLD group (<i>P</i> = 0.005 and <i>P</i> = 0.008, respectively). 31548436 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.320 GeneticVariation disease BEFREE We evaluated the impact of the rs17618244 G>A β-Klotho (KLB) variant on liver damage in 249 pediatric patients with biopsy-proven NAFLD and the association of this variant with the expression of hepatic and soluble KLB. 31655133 2020
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.310 GeneticVariation disease BEFREE <i>KLB</i>, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.100 GeneticVariation phenotype GWASCAT Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. 28485404 2017
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0028754
Disease: Obesity
Obesity 		0.100 GeneticVariation disease BEFREE The G-allele frequency of <i>KLB</i> rs7674434 and T-allele frequency of rs12152703 were higher in the obese with NAFLD than obese without NAFLD group (<i>P</i> = 0.004 and <i>P</i> = 0.006), but the genotype distribution between two non-obese groups did not differ. 31548436 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.020 GeneticVariation phenotype BEFREE Variants in KLB and FGFR4 genes (that determine the functional re-uptake of BA in the portal circulation by hepatocytes) are also demonstrated to be associated with (75)SeHCAT retention, confirming a second potential mechanism for the development of BA diarrhea. 27018117 2016
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.020 GeneticVariation phenotype BEFREE Thus exome sequencing identified additional variants in KLB and FGFR4 associated with bile acids or colonic transit in IBS-D. 24200957 2014
CUI: C1262211
Disease: Diarrhoea predominant irritable bowel syndrome
Diarrhoea predominant irritable bowel syndrome 		0.020 GeneticVariation disease BEFREE The purpose of this study was to test the hypothesis that colesevelam's slowing effects on CT in IBS-D patients is influenced by genetic variants in KLB and FGFR4. 22271411 2012
CUI: C1262211
Disease: Diarrhoea predominant irritable bowel syndrome
Diarrhoea predominant irritable bowel syndrome 		0.020 GeneticVariation disease BEFREE Interaction tests of KLB rs17618244 with 3 nonsynonymous SNPs of fibroblast growth factor receptor 4 (FGFR4) revealed that rs1966265 (Val10Ile) and rs351855 (Gly388Arg) modulate rs1768244's association with colonic transit in IBS-D (P=.0025 and P=.0023, respectively). 21396369 2011
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.010 GeneticVariation disease BEFREE The second objective is to review pharmacogenetics in IBS, with the focus on cytochrome P-450 metabolism of drugs used in IBS, modulation of motor and sensory responses to serotonergic agents based on the 5-hydroxytryptamine (5-HT) transporter-linked polymorphic region (5-HTTLPR) and 5-HT(3) genetic variants, responses to a nonselective cannabinoid agonist (dronabinol) based on cannabinoid receptor (CNR1) and fatty acid amide hydrolase (FAAH) variation, and responses to a bile acid (sodium chenodeoxycholate) and bile acid binding (colesevelam) based on klothoβ (KLB) and fibroblast growth factor receptor 4 (FGFR4) variation. 22403795 2012
CUI: C0348898
Disease: Irritable bowel syndrome with diarrhea
Irritable bowel syndrome with diarrhea 		0.010 GeneticVariation phenotype BEFREE A Klothoβ variant mediates protein stability and associates with colon transit in irritable bowel syndrome with diarrhea. 21396369 2011
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.010 GeneticVariation disease BEFREE The present study was performed to evaluate the potential association between specific single nucleotide polymorphisms (SNPs) in the TNFSF4 and BKL genes with susceptibility to AR in Chinese subjects. 28713926 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.320 Biomarker disease CTD_human Hepatic regulation of VLDL receptor by PPARβ/δ and FGF21 modulates non-alcoholic fatty liver disease. 29289645 2018
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.310 Biomarker disease GENOMICS_ENGLAND KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.300 Biomarker disease CTD_human Hepatic regulation of VLDL receptor by PPARβ/δ and FGF21 modulates non-alcoholic fatty liver disease. 29289645 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE However, further studies are needed to explore the possibility that Klotho could be a novel therapeutic target to reduce obesity and related complications, and to determine whether and how Klotho might influence the regulation and function of a related protein, β-Klotho, which is also involved in energy metabolism. 22641000 2012
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE Recent microRNA (miR) studies have revealed that aberrantly elevated miR-34a in obesity directly targets β-Klotho, the obligate coreceptor for both FGF19 and FGF21, and attenuates metabolic signaling of these hormones. 27125742 2016
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE These results indicate that aberrantly elevated miR-34a in obesity attenuates hepatic FGF19 signaling by directly targeting βKL. 22988100 2012
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE Replenishment of recombinant FGF21 to a level equivalent to that in obesity restores SAT mass and reverses insulin resistance in FGF21KO, but not in adipose-specific βklotho knockout mice. 29348470 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue. 28422755 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE AAV-NT mice also expressed increased levels of E-cadherin and fibroblast growth factor 21 (FGF21), targets of sirtuin-1, and β-klotho, which can acts as a tumor suppressor. 28334808 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE These data suggest βKlotho suppresses tumor growth in hepatocellular carcinoma. 23383245 2013