13910C&gt;T and 22018G&gt;A <i>LCT</i> gene polymorphisms in diagnosing hypolactasia in children

Tomczonek-Moruś, Jolanta; Wojtasik, Arkadiusz; Zeman, Krzysztof; Smolarz, Beata; Bąk‐Romaniszyn, Leokadia

doi:10.1177/2050640618814136

Cited by 11 publications

(13 citation statements)

References 19 publications

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“…Depending on the ethnicity, up to 70% of adults suffer from lactose intolerance as a result of a progressive decrease in intestinal lactase activity [ 11 ]. Genotyping rs4988235 (and the closely correlated rs182549) is considered to enable diagnosis of lactose intolerance in symptomatic patients older than six years [ 24 ] and may be considered to have accuracy increasing with age [ 3 ]. Nevertheless, the relationship with clinical status [ 6 ] or LP phenotype [ 13 ] is not strict.…”

Section: Discussionmentioning

confidence: 99%

Ileal Lactase Expression Associates with Lactase Persistence Genotypes

et al. 2021

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(1) Background: Lactose digestion depends on persistence genotypes (including rs4988235), the frequency of which exhibits broad geographical variability. However, little is known about the relationship between lactase (LCT) genotypes and intestinal expression of LCT. We aimed to investigate ileal expression of LCT depending on main genetic polymorphisms (rs4988235, rs3754689, rs3739022), age, sex, smoking status, body mass index (BMI), and the expression of other genes; (2) Methods: phenotype, array-based genotype, and ileal mucosal biopsy expression data were obtained from the CEDAR study; (3) Results: analyses included 196 healthy Europeans (53.6% women) aged 53.0 ± 13.6 years with a mean BMI of 25.6 ± 4.2 kg/m2, of whom 17.4% were smoking. Ileal LCT expression was mostly independent of age, sex, BMI, or smoking. Rs4988235 homozygous minor allele (GG) associated with lower LCT expression (vs. AG p = 2.2 × 10−6, vs. AA p = 1.1 × 10−7). Homozygous major allele of rs3754689 (GG) was related to higher LCT expression (vs. AG p = 1.7 × 10−5, vs. AA p = 0.0074). Rs3754689 genotype did not modify LCT expression (GG vs. AG p = 0.051) in rs4988235-heterozygous subgroup. Interestingly, CD14, which is a marker of monocytes and macrophages, was the strongest negative transcriptomic correlate of LCT expression (r = −0.57, pFDR = 1.1 × 10−14); (4) Conclusions: both rs4988235 and rs3754689 associated with ileal LCT expression, which did not seem related to age, sex, smoking, or BMI. The inverse correlation between LCT and CD14 expression in the ileum is striking and requires further investigation.

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Section: Discussionmentioning

confidence: 99%

Ileal Lactase Expression Associates with Lactase Persistence Genotypes

et al. 2021

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“…Then, as proposed by Tomczonek-Moruś et al, genetic testing would be preferable in subjects who cannot perform HBT. In fact, they found a significant correlation between a positive HBT and the presence of the aforementioned polymorphisms [26].…”

Section: Genetic Testmentioning

confidence: 97%

Lactose Intolerance—Old and New Knowledge on Pathophysiological Mechanisms, Diagnosis, and Treatment

Cangemi

Sciuto

Marotta³

2021

SN Compr. Clin. Med.

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Lactose intolerance is a pathology frequently encountered today. It occurs when the activity of lactase in the intestine is reduced or absent, with consequent failure to digest lactose. The global prevalence of this clinical condition is estimated of about 57% with instrumental methods, while the real prevalence exceeds 65%. The absence of lactase determines both the excessive osmotic load in the small intestine and the fermentation of lactose by the bacterial flora with consequent production of short-chain fatty acids and gas. This latter process is responsible for the onset of symptoms associated with lactose intolerance (abdominal pain, bloating, flatulence, etc.) which arise after the intake of lactose. Several studies have shown an increased risk of developing various pathologies for lactose-intolerant subjects (some types of cancer, osteoporosis, etc.). Therefore, it is essential to diagnose and properly treat this pathology. Various options exist for diagnosing lactose intolerance: Hydrogen Breath Test, genetic test, Quick Lactose Intolerant Test, Lactose Tolerance Test, Gaxilose Test. Like diagnostic methods, there are several options for treating intolerance. In addition to a food restriction, the use of exogenous enzymes and/or probiotic and the selection of milk containing specific types of beta-caseins less correlated to the appearance of gastrointestinal symptoms are very useful. The aim of this review is to illustrate the main and most modern diagnostic and therapeutic choices for lactose intolerance currently available.

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“…At least five single nucleotide polymorphisms (SNPs) occurring upstream of the LCT gene have been associated with LP into adulthood: LCT-13910C/T and LCT-22018G/A in populations of European descent, LCT-13915T/G in African and Middle Eastern populations, LCT-14010G/C and LCT-13907C/G in some African tribes [ 10 , 11 , 25 , 26 , 27 ]. For the most common SNPs associated with LP in the European population (LCT-13910C/T and LCT-22018G/A), homozygotes (TT and AA) and heterozygotes (CT and GA) are indicative of LP, whereas the wild type (CC and GG) results in LNP [ 28 , 29 ]. In consequence, homozygous carriers of LCT-13910C/C and LCT-22018G/G are typically found to develop LI.…”

Section: Lactose Intolerance: Current Clinical Managementmentioning

confidence: 99%

“…Besides its high sensitivity and specificity, the gaxilose test is easy to use, does not require specialized equipment, and only induces minimal subject discomfort [ 49 ]. Genetic testing has also emerged as a less invasive tool for supporting the diagnosis of LI and tests based on the most common SNPs that are linked to LP in the Caucasian population (LCT-13910C/T and LCT-22018G/A) have been developed [ 29 ]. However, the use of these SNPs cannot be applied as a global diagnostic tool, as other polymorphisms that confer LP have been identified in several African and Arabian populations [ 5 , 10 ].…”

Section: Lactose Intolerance: Current Clinical Managementmentioning

confidence: 99%

“…Today, only a small proportion of genetic tests are carried out by healthcare practitioners who play an essential role in translating and integrating this information into personalized healthy eating advice for their patients [ 4 , 116 ]. The test for polymorphisms in regulatory sequences of the LCT gene is clinically available in Europe for two common polymorphisms, LCT-13910C/T and LCT-22018G/A, associated with LP in the European population [ 29 , 43 ]. However, the use of these SNPs cannot be applied as a global diagnostic tool, given that a total of twenty-three LP variants have currently been identified in the MCM6 gene in distinct geographic regions and population groups [ 5 , 10 , 43 , 117 ].…”

Section: Application Of “Omics” Tools To Research On Lactose Intolerancementioning

confidence: 99%

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Development of Personalized Nutrition: Applications in Lactose Intolerance Diagnosis and Management

et al. 2021

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Recent discoveries in the “omics” field and the growing focus on preventive health have opened new avenues for personalized nutrition (PN), which is becoming an important theme in the strategic plans of organizations that are active in healthcare, food, and nutrition research. PN holds great potential for individual health optimization, disease management, public health interventions, and product innovation. However, there are still multiple challenges to overcome before PN can be truly embraced by the public and healthcare stakeholders. The diagnosis and management of lactose intolerance (LI), a common condition with a strong inter-individual component, is explored as an interesting example for the potential role of these technologies and the challenges of PN. From the development of genetic and metabolomic LI diagnostic tests that can be carried out in the home, to advances in the understanding of LI pathology and individualized treatment optimization, PN in LI care has shown substantial progress. However, there are still many research gaps to address, including the understanding of epigenetic regulation of lactase expression and how lactose is metabolized by the gut microbiota, in order to achieve better LI detection and effective therapeutic interventions to reverse the potential health consequences of LI.

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13910C>T and 22018G>A LCT gene polymorphisms in diagnosing hypolactasia in children

Cited by 11 publications

References 19 publications

Ileal Lactase Expression Associates with Lactase Persistence Genotypes

Ileal Lactase Expression Associates with Lactase Persistence Genotypes

Lactose Intolerance—Old and New Knowledge on Pathophysiological Mechanisms, Diagnosis, and Treatment

Development of Personalized Nutrition: Applications in Lactose Intolerance Diagnosis and Management

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