Article
Prevalence of adult-type hypolactasia as diagnosed with genetic and lactose hydrogen breath tests in Hungarians.
Institute of Genetics, Biological Research Centre of Hungarian Academy of Sciences, POB 521, Szeged H-6701, Hungary.
European journal of clinical nutrition (impact factor:
3.07).
02/2009;
63(7):909-12.
DOI:10.1038/ejcn.2008.74
pp.909-12
Source: PubMed
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Citations (0)
- Cited In (2)
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Article: Intolerância à lactose: mudança de paradigmas com a biologia molecular
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ABSTRACT: Resumo Na maioria dos mamíferos a atividade da enzima lactase diminui na parede intestinal após o desmame, caracterizando a hipolactasia primária que provoca sintomas de intolerância à lactose. A intensidade dos sintomas de distensão, flatulência, dor abdominal e diarreia variam, dependendo da quantidade de lactose ingerida, e aumentam com o passar da idade. A hipolactasia é determinada geneticamente, porém uma mutação ocorreu para que fizesse parte da humanidade tolerar o leite na idade adulta. O diagnóstico é feito por teste de tolerância, empregando a lactose como desafio. Com a descoberta dos finlandeses do polimorfismo associado com a persistência da lactase, principalmente no norte da Europa, o exame genético passou a ser outra ferramenta diagnóstica mais confortável para o intolerante. No Brasil, 43% dos brancos e dos mulatos têm alelo de persistência da lactase, sendo a hipolactasia mais frequente entre os negros e japoneses. Entretanto, na prática clínica indivíduos com hipolactasia podem ser orientados a consumir alguns derivados do leite e alimentos contendo lactose sem apre-sentar sintomas de intolerância, enquanto que outros terão que fazer restrição de lactose na dieta. UniterMos: Intolerância à lactose. Fatores de lactose. Epidemiologia. Biologia molecular. -
Article: A worldwide correlation of lactase persistence phenotype and genotypes.
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ABSTRACT: The ability of adult humans to digest the milk sugar lactose - lactase persistence - is a dominant Mendelian trait that has been a subject of extensive genetic, medical and evolutionary research. Lactase persistence is common in people of European ancestry as well as some African, Middle Eastern and Southern Asian groups, but is rare or absent elsewhere in the world. The recent identification of independent nucleotide changes that are strongly associated with lactase persistence in different populations worldwide has led to the possibility of genetic tests for the trait. However, it is highly unlikely that all lactase persistence-associated variants are known. Using an extensive database of lactase persistence phenotype frequencies, together with information on how those data were collected and data on the frequencies of lactase persistence variants, we present a global summary of the extent to which current genetic knowledge can explain lactase persistence phenotype frequency. We used surface interpolation of Old World lactase persistence genotype and phenotype frequency estimates obtained from all available literature and perform a comparison between predicted and observed trait frequencies in continuous space. By accommodating additional data on sample numbers and known false negative and false positive rates for the various lactase persistence phenotype tests (blood glucose and breath hydrogen), we also apply a Monte Carlo method to estimate the probability that known lactase persistence-associated allele frequencies can explain observed trait frequencies in different regions. Lactase persistence genotype data is currently insufficient to explain lactase persistence phenotype frequency in much of western and southern Africa, southeastern Europe, the Middle East and parts of central and southern Asia. We suggest that further studies of genetic variation in these regions should reveal additional nucleotide variants that are associated with lactase persistence.BMC Evolutionary Biology 02/2010; 10:36. · 3.52 Impact Factor
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Keywords
adult-type hypolactasia varies
control group
genetic screening
genotyping tests furnish
Hypolactasia
lactase-persistent
lactase-persistent genotypes correlated
lactose H2 breath test
negative H2 test
non-persistent genotypes
positive lactose H2 breath test
prevalence
SNP
symptomatic children