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DNA-Lactose&Gluten™

Che cos’è DNA-Lactose&Gluten?

È un test nutrigenetico che analizza in 7 geni la presenza di specifiche variazioni genetiche legate all’intolleranza al lattosio e al glutine. I risultati del test permettono di:

  1. conoscere la predisposizione genetica all’intolleranza al lattosio, cioè di sapere se la lattasi, enzima che digerisce il lattosio, viene prodotta in quantità sufficienti a digerire il lattosio;
  2. conoscere la predisposizione genetica all’intolleranza al glutine, cioè di sapere se il profilo genetico (aplotipo) è del tipo HLA-DQ2/DQ8 compatibile con la presenza di intolleranza al glutine.

Sulla base del test, il medico potrà decidere di fare ulteriori approfondimenti diagnostici.

Perché dovrei fare il test DNA-Lactose&Gluten?

Frequentemente i disturbi gastrointestinali quali diarrea, flatulenza, gonfiore e dolori addominali, sono dovuti all’intolleranza al lattosio oppure al glutine. L’intolleranza al lattosio è dovuta al deficit dell’enzima lattasi ed è una delle forme più comuni di carenza enzimatica. In Italia, buona parte delle persone possiede una variazione genetica che non consente il perdurare della lattasi nella vita adulta e può presentare intolleranza al lattosio. Anche l’intolleranza al glutine o malattia celiaca è molto diffusa e si stima che possa colpire 1 persona su 100. L’intolleranza si manifesta con l’ingestione di glutine, proteina presente nel frumento, orzo, avena, segale, miglio, kamut e farro, che determina l’atrofia dei villi intestinali e quindi un quadro di malassorbimento. Il 90% dei pazienti con malattia celiaca hanno un aplotipo HLA-DQ2, mentre una minoranza possiede HLA-DQ8. In caso di positività, il medico dovrà fare ulteriori esami per confermare la malattia.

Objectives: identify the presence of genetic variants in the gene LCT and the serological HLA-DQ2 and DQ8 haplotypes that increase predisposition respectively to Lactose and gluten intolerance.

SNPs & Genes in the intolerance to lactose and gluten

1. LACTOSE INTOLERANCE

Gene: LCT; Lactase
Variation tested: -13910-CT
Chromosome location: 2q21
Total publications on the gene: 72
Meta-Analysis: -
GWAS: -

The protein encoded by this gene belongs to the family 1 of glycosyl hydrolases. The protein is integral to plasma membrane, localized in the intestinal brush border, and has both phlorizin hydrolase activity and lactase activity.
Catalytic reactions of LCT are: 1) Lactose + H2O = D-galactose + D-glucose. 2)Glycosyl-N-acylsphingosine + H2O = N-acylsphingosine + a sugar.
Defects in LCT are the cause of congenital lactase deficiency (COLACD); also known as hereditary alactasia or disaccharide intolerance II. Congenital lactase deficiency is a an autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, adult-type hypolactasia, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down-regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT.
The SNP tested in the DNA-Lactose&Gluten test is the C/T(-13910) variant that occurs approximately 14 kb upstream of the LCT gene (603202) and affects a binding site of transcription factor AP-2 (see 107580). The C allele, associated with lactase non-persistence, is in the consensus binding motif, whereas the T variant disrupts this motif, allowing somehow gene expression. Note that this test is not a diagnostic test: a person with lactase deficiency may still be tolerant to lactose as a result of the gust lactobacilli flora. However, persons intolerant to lactose do have lack of LCT expression.

2. GLUTEN INTOLERANCE

Gene: HLA-DQ2 and DQ8; major histocompatibility complex, class II
HLA-DQ alleles tested: DQA1*0201, DQA1*0501, DQA1*03, DQB1*02, DQB1*0301, DQB1*0302, DRB1*04, DRB1*07, DRB1*0301, DRB1*11, DRB1*12
Chromosome location: 6p21.3
Total publications on genes and celiac disease: 208
Meta-Analysis: 16
GWAS: 10

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins. It is characterized by INFLAMMATION AND atrophy of the mucosa of the upper small intestine, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. Manifestations include diarrhea, malabsorption, steatorrhea, and nutritional and vitamin deficiencies.
Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children. Greater awareness of the presentation of celiac disease and the availability of accurate serologic tests led to the realization that the disorder is relatively common, affecting 1 of every 120 to 300 persons in both Europe and North America. The prevalence of celiac disease among Finnish schoolchildren is at least 1 case in 99 children. With a prevalence close to 1%, celiac disease is the most common food intolerance in general western populations.
A susceptibility to celiac disease has been found to be genetically determined by possession of specific HLA-DQ alleles (major histocompatibility complex, class II) on chromosome 6p21.3; this region has been designated CELIAC1. The class II MHC proteins are heterodimers of one alfa and one beta- transmembrane chains, with highly variable N-terminal domains (alfa-1 and beta-1) and two Ig-like conserved domains closed to the cell membrane. Class II MHC proteins play a central role in the immune system by presenting peptides derived from extracellular proteins and are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). On chromosome 6 there are three types of genes that encode for Class II MHC protein: DP (encodes for α and β), DQ (encodes for α and β), DR (encodes for α and 2 β). Depending on the parent allele contribution, there could be several types of MHC class II. HLA-DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients; a minority of patients displays HLA-DQ8 (heterodimer of DQA1*03/DQB1*03:02).
The DNA-Lactose&Gluten test analyses the DNA-sample from oral mucosa by PCR-SSP (allele-specific primer) to determine the presence of the HLA alleles:
DQA1*0201, DQA1*0501, DQA1*03, DQB1*02, DQB1*0301, DQB1*0302, DRB1*04, DRB1*07, DRB1*0301, DRB1*11, DRB1*12.
On the whole, 11 HLA-alleles are tested. The result is visualized by agarose gel electrophoresis. The association of alleles defines the serological HLA DQ2 and DQ8 haplotypes which give predisposition to celiac disease. It has to be noted that this is not a diagnostic test of celiac disease and that the presence of DQ2 and DQ8 means an increased probability of having the disease; it is sensible to perform additional diagnostic analysis to verify the presence of the disease. On the contrary, the negativity to DQ2 and DQ8 let exclude the presence of the disease.

Come avere la Nutrizione Personalizzata?

1. Ordina la consulenza genetica e ricevi il materiale per il prelievo orale 2. Spedisci il campione di saliva e cellule della bocca
4. Ordini i tuoi integratori personalizzati 3. Ricevi il Report Nutri-Genetico sulla tua pagina web personale (15 - 20 giorni) nutrimedigen.com

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L’offerta DNA-Lactose&Gluten™

  • Test DNA-Lactose&Gluten™: 162€

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