LCT-22018G&gt;A single nucleotide polymorphism is a better predictor of adult-type hypolactasia/lactase persistence in Japanese-Brazilians than LCT-13910C&gt;T

Mattar, Rejane; Monteiro, Maria do Socorro; Silva, Joyce Matie Kinoshita da; Carrilho, Flair José

doi:10.1590/s1807-59322010001200030

Cited by 20 publications

(19 citation statements)

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“…A third study concluded that the −22018G>A polymorphism is a better predictor of lactase persistence in Japanese-Brazilians than the −13910C>T [37]. In our study we demonstrated that a more comprehensive screening would be needed since we found four variants in the enhancer region besides the −13910C>T. If only the −13910C>T polymorphism would be tested in Recife, for example, 6 individuals would be considered lactose intolerant and they are carrier of LCT enhancer region variants that could be causal of the lactase persistence phenotype.…”

Section: Discussionmentioning

confidence: 99%

Several Different Lactase Persistence Associated Alleles and High Diversity of the Lactase Gene in the Admixed Brazilian Population

et al. 2012

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Adult-type hypolactasia is a common phenotype caused by the lactase enzyme deficiency. The −13910 C>T polymorphism, located 14 Kb upstream of the lactase gene (LCT) in the MCM6 gene was associated with lactase persistence (LP) in Europeans. This polymorphism is rare in Africa but several other variants associated with lactase persistence were observed in Africans. The aims of this study were to identify polymorphisms in the MCM6 region associated with the lactase persistence phenotype and to determine the distribution of LCT gene haplotypes in 981 individuals from North, Northeast and South Brazil. These polymorphisms were genotyped by PCR based methods and sequencing. The −13779*C,−13910*T, −13937*A, −14010*C, −14011*T LP alleles previously described in the MCM6 gene region that acts as an enhancer for the LCT gene were identified in Brazilians. The most common LP allele was −13910*T. Its frequency was highly correlated with European ancestry in the Brazilian populations investigated. The −13910*T was higher (0.295) in southern Brazilians of European ancestry and lower (0.175) in the Northern admixed population. LCT haplotypes were derived from the 10 LCT SNPs genotyped. Overall twenty six haplotypes previously described were identified in the four Brazilian populations studied. The Multidimensional Scaling analysis showed that Belém, in the north, was closer to Amerindians. Northeastern and southern Afro-descendants were more related with Bantu-speaking South Africans whereas the Southern population with European ancestry grouped with Southern and Northern Europeans. This study shows a high variability considering the number of LCT haplotypes observed. Due to the highly admixed nature of the Brazilian populations, the diagnosis of hypolactasia in Brazil, based only in the investigation of the −13910*T allele is an oversimplification.

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Section: Discussionmentioning

confidence: 99%

Several Different Lactase Persistence Associated Alleles and High Diversity of the Lactase Gene in the Admixed Brazilian Population

et al. 2012

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“…Patients with LCT - 13910CC were also LCT -22018GG, while individuals with LCT -13910CT had the LCT -22018GA genotype. LCT -13910TT was associated with LCT -22018AA, except for a few cases in Finland6 and China,32 and in Japanese Brazilians 33…”

Section: Lactase-persistence Alleles and Polymorphisms For Lactose Tomentioning

confidence: 86%

Lactose intolerance: diagnosis, genetic, and clinical factors

Mattar

Mazo²,

Carrilho³

2012

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Most people are born with the ability to digest lactose, the major carbohydrate in milk and the main source of nutrition until weaning. Approximately 75% of the world’s population loses this ability at some point, while others can digest lactose into adulthood. This review discusses the lactase-persistence alleles that have arisen in different populations around the world, diagnosis of lactose intolerance, and its symptomatology and management.

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“…d Haplotype frequencies do not sum up to 1 because the rare haplotypes were combined in a single group, which was excluded from the analysis. [36], which only has a phenotypic impact in adulthood, even though the predisposing SNP is present from conception. In respect of TNF secretion, we are not aware of any evidence of differences between healthy individuals during stages of life.…”

Section: Discussionmentioning

confidence: 99%

Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) single nucleotide polymorphisms: Importance in ARDS in septic pediatric critically ill patients

et al. 2012

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LCT-22018G>A single nucleotide polymorphism is a better predictor of adult-type hypolactasia/lactase persistence in Japanese-Brazilians than LCT-13910C>T

Cited by 20 publications

References 10 publications

Several Different Lactase Persistence Associated Alleles and High Diversity of the Lactase Gene in the Admixed Brazilian Population

Several Different Lactase Persistence Associated Alleles and High Diversity of the Lactase Gene in the Admixed Brazilian Population

Lactose intolerance: diagnosis, genetic, and clinical factors

Tumor necrosis factor (TNF) and lymphotoxin-alpha (LTA) single nucleotide polymorphisms: Importance in ARDS in septic pediatric critically ill patients

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