Genetics of Primary Adult Lactase Deficiency

Gilat, Tuvia; Benaroya, Y.; Gelman-Malachi, E; Adam, A.

doi:10.1016/s0016-5085(73)80126-x

Cited by 27 publications

(4 citation statements)

References 25 publications

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“…We obtained unique data of lactase de ciency genotypes among Ashkenazi Jews, since the previous statistics for this population were limited, outdated, and did not use genetic a liation with Ashkenazi Jews. Our statistics turned out to be similar to previously published data (60-80%) [19,[47][48]. The prevalence of the lactase de ciency genotype is comparable with that of the North Caucasus and Central Asia.…”

Section: Discussionsupporting

confidence: 90%

Lactase deficiency in Russia: multiethnic genetic study

Kovalenko¹,

Vergasova²,

Shoshina

et al. 2023

Eur J Clin Nutr

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BackgroundLactase persistence -the ability to digest lactose through adulthood -is closely related to evolutionary adaptations and has affected many populations since the beginning of cattle breeding. Nevertheless, the contrast initial phenotype, lactase non-persistence or adult lactase de ciency, is still affecting large numbers of people worldwide. MethodsWe performed the largest multiethnic genetic study of lactase de ciency on 24439 people in Russia to date. The percent of each population group was estimated according to the local ancestry inference results. Additionally, we calculated frequencies of rs4988235 GG genotype in Russian regions using the information of current location and birthplace data in client's questionnaire. ResultsIt turned out that among all studied population groups the frequency of GG genotype in rs4988235 was higher than in average in the European populations. In particular, the prevalence of lactase de ciency genotype in the East Slavs group was 42.8% (95% CI: 42.1-43.4%). We also investigated the regional prevalence of lactase de ciency by current place of residence. ConclusionsOur study emphasizes the diagnostic signi cance of genetic testing, i.e. speci cally for lactose intolerance parameter, as well as the scale of the problem of lactase de ciency in Russia which needs to be addressed by healthcare and food industry.

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Section: Discussionsupporting

confidence: 90%

Lactase deficiency in Russia: multiethnic genetic study

Kovalenko¹,

Vergasova²,

Shoshina

et al. 2023

Eur J Clin Nutr

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“…It appears, therefore, that in the normal situation, as seen in the majority of human population and other placental mammals, a recessive gene controls the loss of lactase activity. These findings were also substantiated by family studies in several other communities (Flatz & Saengudom, 1969;Gudmand-Hoyer & Jarnum, 1969;Welsh, 1970;Gilat, Benaroya, Gelman-Malachi & Adam, 1973). Persistence of high intestinal lactase activity into adult life, as far as we know, is only observed in man and is believed to have arisen as a result of a genetic mutation that had taken place some 10000 years ago in some dairying communities and has persisted because of nutritional advantage and the dominant nature of the mutant gene (Simoons, 1970;Flatz & Rotthauwe, 1973).…”

Section: Discussionmentioning

confidence: 73%

The effect of continued feeding of physiological amounts of lactose on the level of intestinal lactase and other disaccharidase enzyme activities in the rat

Tadesse¹

1990

Experimental Physiology

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SUMMARYIntestinal lactase activity in mammals is high at birth but begins to decline around weaning and reaches very low levels in adult life. The triggering mechanism for this decline is not clear. Because of the association of the decline with weaning, lack of lactose in the diet has been implicated. In 110 growing rats, the effect of continued supplementation of the diet after weaning with physiological amounts of either cows' milk or a 5 % lactose solution on intestinal lactase and other disaccharidase enzyme activities was investigated. In both control and test animals, the specific lactase activity decreased from a peak value of 115 +4,umol min-1 gprotein before weaning to about 10 % at maturity. There was no significant difference in the level or the pattern of decline between the groups. Sucrase, maltase and trehalase showed the normal maturational changes without being affected by the test diets. The finding suggests that diet, particularly the presence or absence of physiological amounts of lactose, has no appreciable effect on the age related spontaneous decline of intestinal lactase activity or on the pattern of development of the other disaccharidases.

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“…At present the literature contains only a few such studies (Ferguson and Maxwell, 1967;Welsh e^^., 1968;Flatz and Saengudom, 1969;Welsh, 1970;Gilat et al_., 1973). Taken together these studies report a total of only 42 families in which both parents and one or more of their off springs were subjected to lactose tolerance tests and lactase assay.…”

Section: The Genetic Hypothesismentioning

confidence: 99%

“…also studied two such families(Figure 2, families C and D) and found all the children to be deficient. However,Gilat et al^ (1973) studied 11 such families; in two of the families(Figure 3, families 2 and 31) he found that not all the children were deficient. These findings provide some argument against recessive in heritance, but Gilat and his colleagues suggested that this discrepancy could have been due to an error in interpretation of the lactose toler ance tests or that one of the parents could have had secondary lactase deficiency (deficiency due to intestinal injury).…”

mentioning

confidence: 99%

The lactase enzyme: attempted induction in mammalian cell lines

Ward

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Genetics of Primary Adult Lactase Deficiency

Cited by 27 publications

References 25 publications

Lactase deficiency in Russia: multiethnic genetic study

Lactase deficiency in Russia: multiethnic genetic study

The effect of continued feeding of physiological amounts of lactose on the level of intestinal lactase and other disaccharidase enzyme activities in the rat

The lactase enzyme: attempted induction in mammalian cell lines

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