Lactose intolerance genetic testing: Is it useful as routine screening? Results on 1426 south–central Italy patients

Santonocito, Concetta; Scapaticci, Margherita; Guarino, Donatella; Annicchiarico, Eleonora Brigida; Lisci, Rosalia; Penitente, Romina; Gasbarrini, Antonio; Zuppi, Cecilia; Capoluongo, Ettore

doi:10.1016/j.cca.2014.09.026

Cited by 21 publications

(14 citation statements)

References 34 publications

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“…Our population had a low prevalence of the LP allele (34.1%), slightly lower than that reported in other Spanish series [ 10 , 11 , 12 ]. Even though we observed a strong correlation between genotype and lactose malabsorption in children ( p < 2.2 × 10 −16 ; Cramér’s V, 0.54), in line with the findings of studies in adult populations [ 20 , 21 , 22 , 23 , 24 ], we believe that, from a practical perspective, the most important correlation to evaluate is the extent to which genotype is associated with the presence of GI symptoms. In our series, CC carriers were mainly lactose non-absorbers (75.4%), while TT carriers were mainly lactose absorbers (91.6%).…”

Section: Discussionsupporting

confidence: 86%

“…Several reports [ 20 , 21 , 22 , 23 , 24 ] have evaluated the clinical value of genetic testing, which can be a good predictor of LP/LNP in specific populations. A high correlation between LP and the standard hydrogen breath test (HBT) has also been demonstrated [ 21 , 24 , 25 ], even though the utility of this test may be limited by ethnicity [ 23 ]. Concordance between these two diagnostic tools appears to be influenced by age [ 26 ], with greater correlation observed in those over 30 years [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

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Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder

2020

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Genetic testing is a good predictor of lactase persistence (LP) in specific populations but its clinical utility in children is less clear. We assessed the role of lactose malabsorption in functional gastrointestinal disorders (FGID) in children and the correlation between the lactase non-persistence (LNP) genotype and phenotype, based on exhaled hydrogen and gastrointestinal symptoms, during a hydrogen breath test (HBT). We also evaluate dairy consumption in this sample. We conducted a 10-year cross-sectional study in a cohort of 493 children with suspected FGID defined by Roma IV criteria. Distribution of the C/T-13910 genotype was as follows: CC, 46.0%; TT, 14.4% (LP allele frequency, 34.1%). The phenotype frequencies of lactose malabsorption and intolerance were 36.3% and 41.5%, respectively. We observed a strong correlation between genotype and both lactose malabsorption (Cramér’s V, 0.28) and intolerance (Cramér’s V, 0.54). The frequency of the LNP genotype (p = 0.002) and of malabsorption and intolerance increased with age (p = 0.001 and 0.002, respectively). In 61% of children, evaluated dairy consumption was less than recommended. No association was observed between dairy intake and diagnosis. In conclusion, we found a significant correlation between genotype and phenotype, greater in older children, suggesting that the clinical value of genetic testing increases with age.

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Section: Discussionsupporting

confidence: 86%

Section: Introductionmentioning

confidence: 99%

Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder

2020

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“…That being so an exhaustive investigation of variation patterns at LP-related genomic regions along the entire peninsula promises to deepen the knowledge about some of the potential routes of LP diffusion to Western Europe. Nevertheless, few studies have to date explored this topic, but examining only the 213,910 C/T and 222,018 G/A (rs182549) variants, thus a limited fraction of genetic variation underlying LP in the Italian population (Anagnostou et al, 2009;Santonocito et al, 2015). Interestingly, they pointed out appreciable discrepancy between distributions of the 213,910 T allele and lactose tolerance assessed by physiological tests, so that the possible contribution of other genetic loci to this trait cannot be ruled out, at least for individuals of Italian ancestry.…”

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confidence: 99%

Inferring the genetic history of lactase persistence along the Italian peninsula from a large genomic interval surrounding the LCT gene

Fanti

Sazzini

Giuliani

et al. 2015

American J Phys Anthropol

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The appreciable genetic continuum observed between people from Northern or Central-Western Italy and Central European populations suggested a local arrival of lactase persistence-related variants mainly via overland routes. On the contrary, diversity of Central-Eastern and Southern Italian groups entailed also gene flow from South-Eastern Mediterranean regions, in accordance to the earlier entrance of the Neolithic in Southern Italy via maritime population movements along the Mediterranean coastlines.

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“…Ritkán TT vagy TC genotípusú egyénekben is kialakulhat tejcukorérzékenység. Egyszerűsége és pontossága révén a genetikai tesztet szűrővizs-gálatként is javasolták, de ilyen irányú vizsgálat egyelőre csak olaszországi népcsoportokon történt [29].…”

Section: Táblázatunclassified

Laktózintolerancia: a laktázgén C/T-13910 polimorfizmusának és a hidrogénkilégzési teszt pontosságának retrospektív kiértékelése gasztroenterológiai szakrendelésen

2016

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Bevezetés: A felnőtt típusú hypolactasia a leggyakoribb szénhidrát-felszívódási zavar. Célkitűzés: A laktázgén C/T-13910-polimorfizmus eloszlásának és a H 2 -kilégzési teszt pontosságának, valamint a genetikai és kilégzési teszt konkordanciájának kiértékelése. Módszer: A retrospektív tanulmányba 496, tejcukor-érzékenység tüneteivel jelentkező beteget válogattak be. A szerzők a C/T-13910 genotípust TaqMan polimeráz láncreakcióval, a laktózintoleranciát H 2 -kilégzési teszttel vizsgálták. Eredmények: A C/T-19310 genotípusok eloszlása az alábbi volt: CC: 48,1%, TC: 40,5%, TT: 11,4%. A genetikai tesztet viszonyítási alapnak véve, a kilégzési teszt érzékenysége 84,3%, fajlagossága 95,7%, pozitív prediktív értéke 96,7%, negatív prediktív értéke 80,4% volt. A kilégzési tesztet viszonyítási alapul véve, a genetikai teszt érzékenysége 96,6%, fajlagossága 80,4%, pozitív prediktív értéke 84,3%, negatív prediktív értéke 95,7% volt. A két vizsgálat konkordanciája (kappa-index) 0,78 volt. Az esetek 11,1%-ában volt a két vizsgálat eredménye diszkordáns. Következtetések: Laktózérzékenység panaszaival jelentkező betegekben a hypolactasiára jellemző CC genotípus az esetek majdnem felében kimutatható. A genetikai és kilégzési teszt pontossága hasonló, mindkettő használható a diagnózis alapjául, egymást kiegészítik. A két teszt konkordanciája jó. A diszkordáns esetekben a jelenség okát meg kell keresni. Orv. Hetil., 2016, 157(25), 1007-1112.Kulcsszavak: genetikai teszt, hidrogénkilégzési teszt, hypolactasia, laktózintolerancia, polimorfizmus Accuracy of lactase gene C/T-13910 polymorphism and hydrogen breath test in a gastroenterology outpatient clinic: a retrospective studyIntroduction: Adult type hypolactasia is the most prevalent carbohydrate malabsorption. Aim: To assess the distribution of lactase gene C/T-13910 polymorphism and the accuracy and concordance of a genetic test and H 2 breath test in the diagnosis of adult type hypolactasia. Method: 496 patients with symptoms of lactose intolerance were enrolled in a retrospective study who underwent genetic test using TaqMan polymerase chain reaction and H 2 breath test. Results: The prevalence of C/T-13910 genotypes was: CC 48.1%, TC: 40.5%, and TT: 11.4%. When the genetic test was taken as reference, the sensitivity of the breath test was 84.3%, with a specificity of 95.7%, a positive predictive value of 96.7% and negative predictive value of 80.4%. Conversely, the accuracy of genetic test was: sensitivity 96.6%, specificity 80.4%, positive predictive value 84.3% and negative predictive value 95.7%. The concordance value between the two tests (kappa index) was 0.78. The results were discordant in 11.1% of the cases. Conclusions: In symptomatic patients, the lactase non-persistence genotype CC occurred in almost half of the patients. Both the genetic and the breath tests are sufficiently accurate, with good predictive value and they can be used to set up the diagnosis. Discordant results should be carefully interpreted.

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Lactose intolerance genetic testing: Is it useful as routine screening? Results on 1426 south–central Italy patients

Cited by 21 publications

References 34 publications

Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder

Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder

Inferring the genetic history of lactase persistence along the Italian peninsula from a large genomic interval surrounding the LCT gene

Laktózintolerancia: a laktázgén C/T-13910 polimorfizmusának és a hidrogénkilégzési teszt pontosságának retrospektív kiértékelése gasztroenterológiai szakrendelésen

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