|(C;C)||1.1||possibly lactose intolerant|
|(C;T)||1.1||can digest milk|
|(T;T)||1.1||can digest milk|
In these populations, the rs4988235(T) allele is both the more common allele and the one associated with lactase persistence; individuals who are rs4988235(C;C) are likely to be lactose intolerant.
In populations of sub-Saharan Africans, though, the rs4988235(T) allele is so rare that it's unlikely to be predictive of lactase persistence, and other SNPs are predictive instead. [PMID 15106124, PMID 17159977]
- See also OMIM 601806.0001
[PMID 20225268] The T-13910C polymorphism in the lactase phlorizin hydrolase gene is associated with differences in serum calcium levels and calcium intake
[PMID 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
[PMID 22572735] Lactase persistence may have an independent origin in Tibetan populations from Tibet, China
[PMID 17436249] Measuring European population stratification with microarray genotype data.
[PMID 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.
[PMID 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.
[PMID 18602983] Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1.
[PMID 18605960] Genetic testing for adult-type hypolactasia in Italian families.
[PMID 18797476] Lactase persistence-related genetic variant: population substructure and health outcomes.
[PMID 18974842] Gender differences in genetic risk profiles for cardiovascular disease.
[PMID 19138442] Genetic lactase non-persistence, consumption of milk products and intakes of milk nutrients in Finns from childhood to young adulthood.
[PMID 19265028] Geographical structure and differential natural selection among North European populations.
[PMID 19326473] Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting.
[PMID 19687126] A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.
[PMID 19943975] Polymorphism in the oxytocin promoter region in patients with lactase non-persistence is not related to symptoms.
[PMID 20015952] European lactase persistence genotype shows evidence of association with increase in body mass index.
[PMID 20031626] Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery.
[PMID 20109229] Haplotype allelic classes for detecting ongoing positive selection.
[PMID 20616999] Usefulness of Mendelian randomization in observational epidemiology.
[PMID 21152447] Adult-type hypolactasia and lactose malabsorption in Poland.
[PMID 21193851] Association of the LCT-13910C>T polymorphism with obesity and its modulation by dairy products in a Mediterranean population.
[PMID 21235777] Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.
[PMID 22965418] Genetic variation in the lactase gene, dairy product intake and risk for prostate cancer in the European prospective investigation into cancer and nutrition
[PMID 23252911] The lactase persistence -13910C>T polymorphism shows indication of association with abdominal obesity among Portuguese children.
[PMID 22948027] Stronger signal of recent selection for lactase persistence in Maasai than in Europeans.
[PMID 23028602] Lactase persistence and lipid pathway selection in the Maasai.
[PMID 23029545] Several different lactase persistence associated alleles and high diversity of the lactase gene in the admixed Brazilian population.
[PMID 23479116] Associations of the lactase persistence allele and lactose intake with body composition among multiethnic children.
[PMID 23647908] The lactase persistence genotype is associated with body mass index and dairy consumption in the D.E.S.I.R. study.
[PMID 25505833] The lactase persistence genotype is a protective factor for the metabolic syndrome
|CLNSRC||ClinVar GTR OMIM Allelic Variant|