Rs4988235

Also known as "C/T(-13910)", and located in the MCM6 gene but with influence on the lactase LCT gene, rs4988235 is one of two SNPs that is associated with the primary haplotype associated with hypolactasia, more commonly known as lactose intolerance in European Caucasian populations. ,

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

Measuring European population stratification with microarray genotype data.

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

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.

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

Genetic testing for adult-type hypolactasia in Italian families.

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

Gender differences in genetic risk profiles for cardiovascular disease.

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

Geographical structure and differential natural selection among North European populations.

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

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

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

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

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

Haplotype allelic classes for detecting ongoing positive selection.

Usefulness of Mendelian randomization in observational epidemiology.

Adult-type hypolactasia and lactose malabsorption in Poland.

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

Lactase persistence genotypes and malaria susceptibility in Fulani of Mali.

The lactase persistence -13910C>T polymorphism shows indication of association with abdominal obesity among Portuguese children.