Lactase persistence/non-persistence variants, C/T_13910 and G/A_22018, as a diagnostic tool for lactose intolerance in IBS patients

Bernardes-Silva, Carlos Felipe; Pereira, Alexandre C.; Mota, Glória de Fátima Alves da; Laudanna, Antônio Atílio

doi:10.1016/j.cca.2007.07.012

Cited by 29 publications

(43 citation statements)

References 29 publications

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“…In Brazilians, both the LCT ‐13910C>T allele2 and the LCT ‐22018G>A allele10 have been associated with lactase persistence phenotypes. As such, genetic analysis for Japanese‐Brazilians should include an assessment for the LCT ‐22018G>A allele, as the LCT ‐13910C>T polymorphism is already routinely performed for hypolactasia/lactase persistence diagnosis 2.…”

Section: Resultsmentioning

confidence: 99%

LCT-22018G>A single nucleotide polymorphism is a better predictor of adult-type hypolactasia/lactase persistence in Japanese-Brazilians than LCT-13910C>T

Mattar

Monteiro

Silva

et al. 2010

Clinics

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Section: Resultsmentioning

confidence: 99%

LCT-22018G>A single nucleotide polymorphism is a better predictor of adult-type hypolactasia/lactase persistence in Japanese-Brazilians than LCT-13910C>T

Mattar

Monteiro

Silva

et al. 2010

Clinics

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“…-14010*C -13915*G -13910*T -13907*G … activity in 196 Finnish individuals, and subsequent studies have conWrmed a tight but not absolute association between ¡13910*T and lactase persistence as judged by lactose tolerance testing in populations of northern European ancestry (Bernardes-Silva et al 2007;Hogenauer et al 2005;Kerber et al 2007;Poulter et al 2003) and there was also a correlation, but not absolute, between genotypes and enzymatic activity (Poulter et al 2003). However the A haplotype extends far beyond the 50 kb LCT gene region, with carriers of the ¡13910*T allele having almost identical chromosomes extending for nearly 1 Mb (Bersaglieri et al 2004;Poulter et al 2003).…”

Section: Identifying the Causes Of Lactase Persistencementioning

confidence: 93%

Lactose digestion and the evolutionary genetics of lactase persistence

et al. 2008

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It has been known for some 40 years that lactase production persists into adult life in some people but not in others. However, the mechanism and evolutionary significance of this variation have proved more elusive, and continue to excite the interest of investigators from different disciplines. This genetically determined trait differs in frequency worldwide and is due to cis-acting polymorphism of regulation of lactase gene expression. A single nucleotide polymorphism located 13.9 kb upstream from the lactase gene (C-13910 > T) was proposed to be the cause, and the -13910*T allele, which is widespread in Europe was found to be located on a very extended haplotype of 500 kb or more. The long region of haplotype conservation reflects a recent origin, and this, together with high frequencies, is evidence of positive selection, but also means that -13910*T might be an associated marker, rather than being causal of lactase persistence itself. Doubt about function was increased when it was shown that the original SNP did not account for lactase persistence in most African populations. However, the recent discovery that there are several other SNPs associated with lactase persistence in close proximity (within 100 bp), and that they all reside in a piece of sequence that has enhancer function in vitro, does suggest that they may each be functional, and their occurrence on different haplotype backgrounds shows that several independent mutations led to lactase persistence. Here we provide access to a database of worldwide distributions of lactase persistence and of the C-13910*T allele, as well as reviewing lactase molecular and population genetics and the role of selection in determining present day distributions of the lactase persistence phenotype.

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“…Samples showing a single band of 201 bp were classified as the CC genotype or a single band of 177 bp as the TT genotype; two bands of 201 bp and 177 bp represented the CT genotype. The CC genotype was previously associated with hypolactasia, and the CT and TT genotypes with normolactasia [3][4][5][6][7][8][9][10].…”

Section: Subjectsmentioning

confidence: 97%

“…In Brazil, the C/T -13910 polymorphism was found to be associated with primary hypolactasia [10]; thus, the purpose of this study was to validate a simple technique to detect the C/T -13910 polymorphism applicable for routine clinical practice as a new diagnostic tool.…”

Section: Introductionmentioning

confidence: 99%

Single nucleotide polymorphism C/T-13910, located upstream of the lactase gene, associated with adult-type hypolactasia: Validation for clinical practice

Mattar

Monteiro

Villares

et al. 2008

Clinical Biochemistry

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Lactase persistence/non-persistence variants, C/T_13910 and G/A_22018, as a diagnostic tool for lactose intolerance in IBS patients

Cited by 29 publications

References 29 publications

LCT-22018G>A single nucleotide polymorphism is a better predictor of adult-type hypolactasia/lactase persistence in Japanese-Brazilians than LCT-13910C>T

LCT-22018G>A single nucleotide polymorphism is a better predictor of adult-type hypolactasia/lactase persistence in Japanese-Brazilians than LCT-13910C>T

Lactose digestion and the evolutionary genetics of lactase persistence

Single nucleotide polymorphism C/T-13910, located upstream of the lactase gene, associated with adult-type hypolactasia: Validation for clinical practice

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