From SNPedia
| Geno
|
Mag
|
Summary
|
| (C;C)
|
1.1
|
possibly lactose intolerant
|
| (C;T)
|
|
can digest milk
|
| (T;T)
|
|
can digest milk
|
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
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. [
PMID 11788828], [
PMID 15114531]
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]
[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
| PharmGKB | PA165363227 |
| Name | C/T -13910 |
| Annotation | Risk or phenotype-associated allele: C .Phenotype: The C allele of this SNP completely associated with lactase non-persistence in nine extended Finnish pedigrees and in 236/236 individuals from four different populations . Study size: 145 family members/9 familes; 236 individuals . Study population/ethnicity: families: Finnish; individuals: Finnish(196), Italian(9), German(9),South Korean(22) .Type of association: CO;GN. |
| Gene | MCM6 |
| Featue | |
| Evidence | PubMed ID:11788828 |
| Drugs | |
| Diseases | Lactose Intolerance |
| Curation Level | Curated |
| PharmGKB | PA165363255 |
| Name | C/T -13910 |
| Annotation | Phenotype: This SNP, for which the T allele previously has been shown to be tightly associated with lactase persistance, is part of a haplotype that extends for > 1 Mb and includes rs182549(the A allele is associated with lactase persistance). The haplotype appears to be under strong recent positive selection in European Americans. In European Americans, African Americans and East Asians, the alleles associated with lactase persistance were found to occur at frequencies roughly matching the rates of lactase persistance. Study population/ethnicity: European American, African American, East Asian, Scandinavian. Type of association: CO;GN. |
| Gene | MCM6 |
| Featue | |
| Evidence | PubMed ID:15114531 |
| Drugs | |
| Diseases | Lactose Intolerance |
| Curation Level | Curated |
[PMID 22572735] Lactase persistence may have an independent origin in Tibetan populations from Tibet, China
