LCT, lactase, 3938

N. diseases: 90; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE PCR-based genotyping of lactase (LCT) gene polymorphisms is a safe and easy way to diagnose ALI and may complement diagnostic procedures to identify individuals at risk for reduced calcium intake and subsequently osteoporosis due to lactose malabsorption. 31802224 2019
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE Lactose intolerance can be evaluated by means of the Lactose Breath Test (phenotype) and/or genetic evaluation of lactase-gene polymorphism (genotype). 31226742 2019
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE Example associations included validation of known associations between FUT2 secretor status, as well as a variant conferring hypolactasia near the LCT gene, with Bifidobacterium longum abundance in stool. 29378630 2018
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE Recently, an intermediate lactose intolerance (LI) phenotype based on the lactase gene (LCT) C/T<sub>-13910</sub> polymorphism was proposed. 27593109 2017
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE Several studies suggested that the identification of C/T-13910 and G/A-22018 mutations, located upstream the gene encoding the lactase-phlorizin hydrolase (LPH), is a useful tool for the differential diagnosis of hypolactasia. 25281930 2015
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE The LCT C>T-13910 variant was genotyped by RT-PCR in 121 volunteers and lactose malabsorption was assessed using the hydrogen breath test (HBT) after consuming 25 g of lactose. 25096822 2014
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE The prevalence of the GG (LCT-22018G/A) adult hypolactasia genotype among those groups was identical to that of the CC genotype in each group, except for Iraqi-Jews, of which only 83% carried the GG genotype. 23415628 2013
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE A total of 153 healthy volunteers (76 from southern and 77 from northern India) were evaluated for LM by using a lactose tolerance test (LTT), a lactose hydrogen breath test (lactose HBT), and polymerase chain reaction-restriction fragment length polymorphism to identify the lactase gene C/T-13910 polymorphism (confirmed by sequencing). 19889824 2010
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE The CC genotype of the 13910 C/T polymorphism of the LCT gene is linked to lactose intolerance and low calcium intake. 18704543 2009
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE The molecular basis of inherited hypolactasia has yet to be identified, though two polymorphisms in the introns of a helicase upstream from the lactase gene correlate closely with hypolactasia, and thus lactose intolerance. 19960866 2009
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease LHGDN Single nucleotide polymorphism C/T(-13910), located upstream of the lactase gene, associated with adult-type hypolactasia: validation for clinical practice. 18237552 2008
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE We examined genetic polymorphisms that might influence calcium metabolism: lactase (LCT) gene 13910 C/T polymorphism causing lactose intolerance and calcium-sensing receptor (CaSR) gene A986S polymorphism as a responsible factor for the altered cellular calcium sensation. 18980667 2008
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE Patients presenting with symptoms of lactose intolerance are in some centres routinely tested for a single-nucleotide polymorphism C-13910T, which is located upstream of the lactase gene (LCT) and is tightly associated with genetically determined lactase persistence/non-persistence. 17651714 2007
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE To examine a relationship of molecularly defined lactose malabsorption (LM; by LCT-polymorphism) to calcium supply, bone mineral density (BMD) and parameters of bone metabolism in an elderly male cohort. 17318022 2007
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 Biomarker disease BEFREE LCT genotyping and functional lactose malabsorption tests were highly correlated. 17103297 2007
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE Using automated DNA purification on the MagNA Pure LC and real-time PCR on the LightCycler, we examined samples from 220 individuals to estimate genotype frequencies; we then determined LPH C-->T(-13910) genotype in samples from 54 Caucasian patients with a positive LBHT result and symptoms of lactose intolerance. 16391332 2006
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE The correlation between LCT genotype and self-reported milk-intolerance or dislike of milk with was slight, but the correlation with functional tests was highly significant. 16299058 2005
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 AlteredExpression disease BEFREE Lactase non-persistence (adult-type hypolactasia and lactose intolerance) is characterized by a decline in the expression of lactase-phlorizin hydrolase (LPH) after weaning. 16301215 2005
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 AlteredExpression disease BEFREE The frequency of the genotype C/C(-13910) associated with adult-type hypolactasia (low lactase enzyme activity or primary lactose malabsorption (LM)) was significantly greater in individuals with hip fractures, with an adjusted odds ratio (OR) of 3.7 (95% confidence interval (CI)=1.8-7.8), wrist fractures with an adjusted OR of 2.5 (95% CI=1.2-5.2), and hip and wrist fractures combined with an adjusted OR of 4.1 (95% CI=2.0-8.3). 15667380 2005
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE The molecular basis of inherited hypolactasia has yet to be identified, though two polymorphisms in the introns of a helicase upstream from the lactase gene correlate closely with hypolactasia, and thus lactose intolerance. 16805112 2005
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE PCR-based genotyping of lactase gene polymorphisms may complement diagnostic procedures to identify persons at risk for both lactose malabsorption and osteoporosis. 14753735 2004
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE Biochemical methods for assessing lactose malabsorption in the form of the lactose breath hydrogen test and direct lactase enzyme activity performed on small intestinal tissue biopsy samples may also be utilized. 15287817 2004
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 AlteredExpression disease BEFREE Lactose malabsorption (LM; adult-type hypolactasia), an autosomal recessive condition, results from the down-regulation of the activity of lactase enzyme in the intestinal wall. 15365657 2004
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 GeneticVariation disease BEFREE Two DNA genotypes, C/C(-13910) and G/G(-22018), located upstream from the LCT locus, the gene encoding for LPH, were recently identified as representing genetic markers for lactose intolerance. 12795467 2003
CUI: C0022951
Disease: Lactose Intolerance
Lactose Intolerance
0.200 AlteredExpression disease BEFREE Adult-type hypolactasia, also known as lactase non-persistence (lactose intolerance), is a common autosomal recessive condition resulting from the physiological decline in activity of the lactase-phlorizin hydrolase (LPH) in intestinal cells after weaning. 11788828 2002