Development of a novel SNP assay to detect lactase persistence associated genetic variants

Luca, Pasquale De; Iaconis, Daniela; Biffali, Elio; Enza, Coluccia; Magistris, Laura de; Riegler, G.; Pappalardo, Diego; Amato, Manuela; Iardino, Patrizia; Montanino, Concetta; Felice, Bruna De

doi:10.1007/s11033-021-06698-y

Cited by 5 publications

(4 citation statements)

References 29 publications

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“…−13910:C>T (rs4988235) and –22018:G>A (rs182549) are the more studied variants, are present in many ethnic groups and show complete co-segregation with LNP/LP in Europeans. Moreover, the relation between these two polymorphisms and their incidence in hypolactasia are well known [ 85 , 112 , 113 , 114 ].…”

Section: Lactase Deficiency and Lactose Intolerancementioning

confidence: 99%

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Cow’s Milk: A Benefit for Human Health? Omics Tools and Precision Nutrition for Lactose Intolerance Management

Pratelli,

Tamburini,

Badami

et al. 2024

Nutrients

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Cow’s milk (CM) is a healthy food consumed worldwide by individuals of all ages. Unfortunately, “lactase-deficient” individuals cannot digest milk’s main carbohydrate, lactose, depriving themselves of highly beneficial milk proteins like casein, lactoalbumin, and lactoglobulin due to lactose intolerance (LI), while other individuals develop allergies specifically against these proteins (CMPA). The management of these conditions differs, and an inappropriate diagnosis or treatment may have significant implications for the patients, especially if they are infants or very young children, resulting in unnecessary dietary restrictions or avoidable adverse reactions. Omics technologies play a pivotal role in elucidating the intricate interactions between nutrients and the human body, spanning from genetic factors to the microbiota profile and metabolites. This comprehensive approach enables the precise delineation and identification of distinct cohorts of individuals with specific dietary requirements, so that tailored nutrition strategies can be developed. This is what is called personalized nutrition or precision nutrition (PN), the area of nutrition that focuses on the effects of nutrients on the genome, proteome, and metabolome, promoting well-being and health, preventing diseases, reducing chronic disease incidence, and increasing life expectancy. Here, we report the opinion of the scientific community proposing to replace the “one size fits all” approach with tailor-made nutrition programs, designed by integrating nutrigenomic data together with clinical parameters and microbiota profiles, taking into account the individual lactose tolerance threshold and needs in terms of specific nutrients intake. This customized approach could help LI patients to improve their quality of life, overcoming depression or anxiety often resulting from the individual perception of this condition as different from a normal state.

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Section: Lactase Deficiency and Lactose Intolerancementioning

confidence: 99%

“…While the CC genotype is a predictor of low intestinal lactase expression, the TT genotype is a predictor of high lactase expression. On the other hand, the CT genotype indicates an intermediate amount of lactase expression, sufficient to digest lactose [ 114 ]. The main variants are summarized in Table 2 .…”

Section: Lactase Deficiency and Lactose Intolerancementioning

confidence: 99%

Cow’s Milk: A Benefit for Human Health? Omics Tools and Precision Nutrition for Lactose Intolerance Management

Pratelli,

Tamburini,

Badami

et al. 2024

Nutrients

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show abstract

“…Mutations in the SNP rs4988235 cause intolerance problems [115]. Specifically, a genotype that has two (TT) at position -13,910 results in a lactase persistence (LP), while a homozygous CC genotype in the same position results in a lactase non-persistent (LNP) phenotype [116,117].…”

Section: Lactosementioning

confidence: 99%

Perspective Chapter: Predictive Genomics

Kriegsmann,

Cirovic,

Casadonte

et al. 2024

Electron Microscopes, Spectroscopy and Their Applications

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Predictive genomics can support treatment decisions by giving people the chance to act in time to prevent serious illness. Tests based on single nucleotide polymorphism (SNP) can be analyzed by various methods. Matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry technology detects genetic variants based on their individual mass. Standardized workflow, automation, sensitivity, quick turnaround time, and reliability are the main advantages of the MALDI-TOF use in molecular analysis. Beside pharmacogenetics, SNP variation plays a role in various fields of medicine. In the present article importance of various SNPs for nutrigenetics is presented. Especially, various aspects of fat metabolism, vitamin metabolism, and intolerances were discussed.

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“…The CT genotype is characterized by intermediate levels of lactase expression, which are usually sufficient to digest lactose [ 22 , 23 , 24 ].…”

Section: Introductionmentioning

confidence: 99%

A Comprehensive Look at the -13910 C>T LCT Gene Polymorphism as a Molecular Marker for Vitamin D and Calcium Levels in Young Adults in Central and Eastern Europe: A Preliminary Study

Kowalówka

Kosewski

Lipiński

et al. 2023

IJMS

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Intolerance to dairy products resulting from the abnormal digestion of milk sugar (lactose) is a common cause of human gastrointestinal disorders. The aim of this study was to show that the -13910 C>T LCT gene polymorphism, together with genotypes of selected VDR gene polymorphisms and diet and nutritional status parameters, can impact the prevalence of vitamin D and calcium deficiency in young adults. This study was conducted on a group of 63 people, which comprised 21 individuals with primary adult lactase deficiency, and a control group of 42 individuals with no hypolactasia. The LCT and VDR gene genotypes were assessed using PCR restriction fragment length polymorphism (PCR-RFLP) analysis. A validated HPLC method was used to determine serum concentrations of 25(OH)D2 and 25(OH)D3. Atomic absorption spectrometry was used to determine calcium levels. Their diets (self-reported 7-day estimated food record), estimated calcium intakes based on the ADOS-Ca questionnaire and basic anthropometric parameters were assessed. The CC genotype associated with hypolactasia was found in 33.3% of the subjects. The presence of the CC variant of the LCT gene polymorphism in the study group of young Polish adults was found to be associated with significantly lower milk (134.7 ± 66.7 g/d vs. 342.5 ± 176 g/d; p = 0.012) and dairy product consumption (78.50 ± 36.2 g/d vs. 216.3 ± 102 g/d; p = 0.008) compared with lactase persistence. At the same time, people with adult-type primary intolerance were found to have statistically significant lower serum levels of vitamin D and calcium (p < 0.05). There was a higher chance of vitamin D and calcium deficiency and a lower intake in the group exhibiting lactase non-persistence (OR > 1). The AA variant of the VDR gene’s BsmI polymorphism present in people with hypolactasia may further contribute to an increased risk of vitamin D deficiency. Exclusion of lactose from the diet, combined with impaired vitamin D metabolism, may also lead to inhibited calcium absorption by the body. Further research should be carried out on a larger group of subjects to clarify the relationship between lactase activity and vitamin D and calcium levels in young adults.

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Development of a novel SNP assay to detect lactase persistence associated genetic variants

Cited by 5 publications

References 29 publications

Cow’s Milk: A Benefit for Human Health? Omics Tools and Precision Nutrition for Lactose Intolerance Management

Cow’s Milk: A Benefit for Human Health? Omics Tools and Precision Nutrition for Lactose Intolerance Management

Perspective Chapter: Predictive Genomics

A Comprehensive Look at the -13910 C>T LCT Gene Polymorphism as a Molecular Marker for Vitamin D and Calcium Levels in Young Adults in Central and Eastern Europe: A Preliminary Study

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