rs4988235, MCM6

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE The European -13,910*T (rs4988235) was the only LP causative variant found, showing strong association (99.6%) with LP phenotype. 30264486 2019
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE Genotyping of LCT-13910 C/T (rs4988235) was performed to assess primary lactase persistence. 30721917 2019
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE One single nucleotide polymorphism (SNP ID: rs4988235) is often used as a predictor for dairy intake, since it is responsible for LP in people in European descent, and can occur in other ethnic groups. 31405126 2019
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE Other dietary intakes associated with rs4988235 included fruits (β -7.0 g/day, 95% CI -12.4 to -1.7 per additional LP allele), nonalcoholic beverages (β -18.0 g/day, 95% CI -34.4 to -1.6), and wine (β -4.8 g/day, 95% CI -9.1 to -0.6). 30728219 2019
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE We investigated the association between milk intake, LCT-13910 C/T (rs4988235), which is associated with lactase persistence (TT/TC) in Northern Europeans, and hip fractures in three Danish prospective studies (N = 97 811, age ≥20 years). 29537719 2018
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE <i>LCT-13910 C/T</i> (rs4988235) is associated with lactase persistence (<i>TT/TC</i>) in Northern Europeans. 30096803 2018
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE <b>Objective</b> To examine whether previous observed inverse associations of dairy intake with systolic blood pressure and risk of hypertension were causal.<b>Design</b> Mendelian randomization study using the single nucleotide polymorphism rs4988235 related to lactase persistence as an instrumental variable.<b>Setting</b> CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Consortium.<b>Participants</b> Data from 22 studies with 171 213 participants, and an additional 10 published prospective studies with 26 119 participants included in the observational analysis.<b>Main outcome measures</b> The instrumental variable estimation was conducted using the ratio of coefficients approach. 28302601 2017
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE Instrumental variable analysis based on a genetic variant endowing lactase persistence (rs4988235 (MCM6)) was used to obtain estimates for osteoporosis (GEFOS), IHD (CARDIoGRAMplusC4D), T2D (DIAGRAM), adiposity (GIANT), lipids (GLGC) and glycaemic traits (MAGIC). 28225053 2017
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE The genetic trait of lactase persistence (LP) is associated with at least five independent functional single nucleotide variants in a regulatory region about 14 kb upstream of the lactase gene [-13910*T (rs4988235), -13907*G (rs41525747), -13915*G (rs41380347), -14009*G (rs869051967) and -14010*C (rs145946881)]. 29063188 2017
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE We investigated the association of milk intake with obesity and BP using genetically-defined lactase persistence (LP) based on the rs4988235 polymorphism in a Mendelian randomization design in the 1982 Pelotas (Southern Brazil) Birth Cohort. 27170764 2016
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE Second, we confirmed the association between the rs4988235 genetic variant LCT-13910 C/T, associated with lactase persistence/non-persistence, and milk intake. 26085675 2015
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE In 97,811 individuals from the Danish general population, we examined the risk of incident type 2 diabetes and of overweight-obesity by milk intake observationally and by LCT-13910 C/T genotype [polymorphism (rs4988235) upstream from the lactase (LCT) gene], where TT and TC genotypes are associated with lactase persistence and CC with nonpersistence. 26156736 2015
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE The T allele of a functional polymorphism (rs4988235: LCT-13910 C>T), close to the lactase gene, correlates with lactase persistence (LP) in adults. 23647908 2013
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE The -13910C>T polymorphism (rs4988235) upstream from the lactase (LCT) gene, strongly associated with lactase persistence (LP) in Europeans, is emerging as a new candidate for obesity. 21193851 2011
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE We performed a meta-analysis by pooling the beta-coefficient estimates of the relationship between rs4988235 and BMI from the nine studies and found that the carriers of the allele responsible for LP among Europeans showed higher BMI (P = 7.9 x 10(-5)). 20015952 2010
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE Among controls, consumption of milk was associated with the lactase persistence genotype at rs4988235 (OR, 2.39; 95% CI, 1.81-3.15; P=6.9x10(-10)); however, the same genotype was not associated with RCC (OR, 1.01; 95% CI, 0.83-1.22; P=0.9). 20447925 2010
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation BEFREE We genotyped the C/T(-13910) variant (rs4988235) that constitutes the putatively causal allele for lactase persistence (T allele representing persistence) in a general population sample of 3344 women aged 60-79 years from 23 towns across Britain. 18797476 2009
LACTASE PERSISTENCE
CUI: C1857231
Disease: LACTASE PERSISTENCE
0.800 GeneticVariation CLINVAR
Body mass index
CUI: C1305855
Disease: Body mass index
0.700 GeneticVariation GWASCAT A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. 30108127 2018
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Body mass index
CUI: C1305855
Disease: Body mass index
0.700 GeneticVariation GWASCAT The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. 26426971 2015
Hip circumference
CUI: C0562350
Disease: Hip circumference
0.700 GeneticVariation GWASCAT New genetic loci link adipose and insulin biology to body fat distribution. 25673412 2015
Obesity
CUI: C0028754
Disease: Obesity
0.040 GeneticVariation BEFREE Several studies reported associations of the lactase gene (LCT) polymorphism -13910C>T (rs4988235) with obesity-related variables and obesity in adults. 27577176 2017
Obesity
CUI: C0028754
Disease: Obesity
0.040 GeneticVariation BEFREE We investigated the association of milk intake with obesity and BP using genetically-defined lactase persistence (LP) based on the rs4988235 polymorphism in a Mendelian randomization design in the 1982 Pelotas (Southern Brazil) Birth Cohort. 27170764 2016