SNP information rs4988235

Research and publications:

  11788828   Identification of a variant associated with adult-type hypolactasia.

  12915462   Lactase persistence DNA variant enhances lactase promoter activity in vitro: functional role as a cis regulatory element.

  15106124   The T allele of a single-nucleotide polymorphism 13.9 kb upstream of the lactase gene (LCT) (C-13.9kbT) does not predict or cause the lactase-persistence phenotype in Africans.

  15114531   Genetic signatures of strong recent positive selection at the lactase gene.

  16041375   Demonstrating stratification in a European American population.

  17436249   Measuring European population stratification with microarray genotype data.

  18021008   Association of bone morphogenetic proteins with otosclerosis.

  18194137   Adult-type hypolactasia is not a predisposing factor for the early functional and structural changes of atherosclerosis: the Cardiovascular Risk in Young Finns Study.

  18462498   Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smoking

  18602983   Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1.

  18605960   Genetic testing for adult-type hypolactasia in Italian families.

  18797476   Lactase persistence-related genetic variant: population substructure and health outcomes.

  18974842   Gender differences in genetic risk profiles for cardiovascular disease

  19138442   Genetic lactase non-persistence, consumption of milk products and intakes of milk nutrients in Finns from childhood to young adulthood.

  19265028   Geographical structure and differential natural selection among North European populations.

  19326473   Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.

  19687126   A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.

  19912639   HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia.

  19943975   Polymorphism in the oxytocin promoter region in patients with lactase non-persistence is not related to symptoms.

  20015952   European lactase persistence genotype shows evidence of association with increase in body mass index.

  20031626   Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.

  20097913   Correcting population stratification in genetic association studies using a phylogenetic approach.

  20109229   Haplotype allelic classes for detecting ongoing positive selection.

  20225268   The T-13910C polymorphism in the lactase phlorizin hydrolase gene is associated with differences in serum calcium levels and calcium intake.

  20447925   Can lactase persistence genotype be used to reassess the relationship between renal cell carcinoma and milk drinking? Potentials and problems in the application of Mendelian randomization.

  20616999   Usefulness of Mendelian randomization in observational epidemiology.

  20650817   Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes.

  21152447   Adult-type hypolactasia and lactose malabsorption in Poland.

  21193851   Association of the LCT-13910C>T polymorphism with obesity and its modulation by dairy products in a Mediterranean population.

  21212231   A hierarchical Bayesian model for next-generation population genomics.

  21235777   Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.

  21931699   Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset.

  22043165   Genetics of Obesity: What have we Learned?

  22194982   Association of systemic lupus erythematosus clinical features with European population genetic substructure.

  22228373   Polymorphism in the protease-activated receptor-4 gene region associates with platelet activation and perioperative myocardial injury.

  22332091   Recent advances in understanding the role of nutrition in human genome evolution.

  22541939   Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study.

  22590501   European American stratification in ovarian cancer case control data: the utility of genome-wide data for inferring ancestry.

  22742424   Lactase persistence, NOD2 status and Mycobacterium avium subsp. paratuberculosis infection associations to Inflammatory Bowel Disease.

  22948027   Stronger signal of recent selection for lactase persistence in Maasai than in Europeans.

  22965418   Genetic variation in the lactase gene, dairy product intake and risk for prostate cancer in the European prospective investigation into cancer and nutrition.

  23028602   Lactase persistence and lipid pathway selection in the Maasai.

  23029545   Several different lactase persistence associated alleles and high diversity of the lactase gene in the admixed Brazilian population.

  23049788   Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study.

  23166662   Fetal alcohol exposure and IQ at age 8: evidence from a population-based birth-cohort study.

  23479116   Associations of the lactase persistence allele and lactose intake with body composition among multiethnic children.

  23647908   The lactase persistence genotype is associated with body mass index and dairy consumption in the D.E.S.I.R. study.

  24392269   Gene-Lifestyle Interactions in Obesity.

  26156736   Milk intake is not associated with low risk of diabetes or overweight-obesity: a Mendelian randomization study in 97,811 Danish individuals.

  26345458   Lactase non-persistence and general patterns of dairy intake in indigenous and mestizo chilean populations.

  26444257   Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations: implications for clinical implementation of pharmacogenomics.

  26595274   Genome-wide patterns of selection in 230 ancient Eurasians.

  26728963   Genetic diversity of lactase persistence in East African populations.

  26741362   Association with Spontaneous Hepatitis C Viral Clearance and Genetic Differentiation of IL28B/IFNL4 Haplotypes in Populations from Mexico.

  26748513   Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes.

  26753840   Ancient DNA and the rewriting of human history: Be careful with Occam's razor.

  26924531   Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia.

  26988143   Human adaptation and population differentiation in the light of ancient genomes.

  27135931   The genetic history of Ice Age Europe.

  27170764   Association of lactase persistence genotype with milk consumption, obesity and blood pressure: a Mendelian randomization study in the 1982 Pelotas (Brazil) Birth Cohort, with a systematic review and meta-analysis.

  27274049   Early farmers from across Europe directly descended from Neolithic Aegeans.

  27502179   The genetics of an early Neolithic pastoralist from the Zagros, Iran.

  27577176   The lactase -13910C>T polymorphism (rs4988235) is associated with overweight/obesity and obesity-related variables in a population sample of Portuguese young adults.

  27624874   Associations of the MCM6-rs3754686 proxy for milk intake in Mediterranean and American populations with cardiovascular biomarkers, disease and mortality: Mendelian randomization.

  27714771   In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence.

  28225053   Genetically predicted milk consumption and bone health, ischemic heart disease and type 2 diabetes: a Mendelian randomization study.

  28302601   Dairy consumption, systolic blood pressure, and risk of hypertension: Mendelian randomization study.

  28424184   Demographic, lifestyle, and genetic determinants of circulating concentrations of 25-hydroxyvitamin D and vitamin D-binding protein in African American and European American women.

  28497837   Frequency of adult type-associated lactase persistence LCT-13910C/T genotypes in the Czech/Slav and Czech Roma/Gypsy populations.

  29063188   World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.

  29071499   Lactase persistence, milk intake, and mortality in the Danish general population: a Mendelian randomization study.

  29125573   Tailoring Nutritional Advice for Mexicans Based on Prevalence Profiles of Diet-Related Adaptive Gene Polymorphisms.

  29537719   Lactase persistence, milk intake, hip fracture and bone mineral density: a study of 97 811 Danish individuals and a meta-analysis.

  29568104   Gut-microbiome-related LCT genotype and 2-year changes in body composition and fat distribution: the POUNDS Lost Trial.

  30096803   Lactase Persistence, Milk Intake, and Adult Acne: A Mendelian Randomization Study of 20,416 Danish Adults.

  30339693   Association between functional lactase variants and a high abundance of Bifidobacterium in the gut of healthy Japanese people.

  30689919   Maternal Lactase Polymorphism (rs4988235) Is Associated with Neural Tube Defects in Offspring in the National Birth Defects Prevention Study.

  30721917   Assessment of lactase activity in humans by measurement of galactitol and galactonate in serum and urine after milk intake.

  30728219   Dairy Product Intake and Risk of Type 2 Diabetes in EPIC-InterAct: A Mendelian Randomization Study.

  31138550   Dairy Intake and Body Composition and Cardiometabolic Traits among Adults: Mendelian Randomization Analysis of 182041 Individuals from 18 Studies.

  31352438   Genetic and Oral Tests for the Diagnosis of Lactose Intolerance in Mixed-Ancestry Brazilians with Metabolic Syndrome.

  31405126   Association of Lactase Persistence Genotypes (rs4988235) and Ethnicity with Dairy Intake in a Healthy U.S. Population.

  31483113   GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.

  32572223   Genome-wide associations of human gut microbiome variation and implications for causal inference analyses.

  32659776   Lack of Association between LCT_rs140433552*CA>del Indel Polymorphism and Lactose Intolerance in a Southern Brazilian Population.

  32888485   Low Prevalence of Lactase Persistence in Bronze Age Europe Indicates Ongoing Strong Selection over the Last 3,000 Years.

  33170161   Genetic test for the prescription of diets in support of physical activity.

  33208821   Genome-wide association studies and heritability analysis reveal the involvement of host genetics in the Japanese gut microbiota.

  33261611   Genetically proxied milk consumption and risk of colorectal, bladder, breast, and prostate cancer: a two-sample Mendelian randomization study.

  33577048   The lactase rs4988235 is associated with obesity related variables and diabetes mellitus in menopausal obese females.

  33763108   Whole Genome Interpretation for a Family of Five.

  33920682   Ileal Lactase Expression Associates with Lactase Persistence Genotypes.

  34024907   Evidence for a causal association between milk intake and cardiometabolic disease outcomes using a two-sample Mendelian Randomization analysis in up to 1,904,220 individuals.

  34445060   Genetically Predicted Milk Intake and Risk of Neurodegenerative Diseases.

  34630506   Tracing the Distribution of European Lactase Persistence Genotypes Along the Americas.

  34901125   Dairy Consumption, Lactase Persistence, and Mortality Risk in a Cohort From Southern Sweden.

  34978666   Association of milk intake with hay fever, asthma, and lung function: a Mendelian randomization analysis.

  34997937   Dairy consumption and Parkinson's disease: a Mendelian randomized trial.