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Interactive map exploring the lactase persistence (LP) frequencies worldwide (http://bionit.ugr.es/pages/investigacion/software/bioinformatics-methods-software). It includes all available literature reports on LP frequencies till 20 July 2020. It also offers a detailed description for each included study (incorporating information related to geographical location, ethnicity, number of individuals analyzed, reported frequency, and literature references). The figure presented here represents a static capture of the map (showing mean LP frequencies per country).

Interactive map exploring the lactase persistence (LP) frequencies worldwide (http://bionit.ugr.es/pages/investigacion/software/bioinformatics-methods-software). It includes all available literature reports on LP frequencies till 20 July 2020. It also offers a detailed description for each included study (incorporating information related to geographical location, ethnicity, number of individuals analyzed, reported frequency, and literature references). The figure presented here represents a static capture of the map (showing mean LP frequencies per country).

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Article
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In humans the ability to digest milk lactose is conferred by a β-galactosidase enzyme called lactase-phlorizin hydrolase (LPH). While in some humans (approximately two-thirds of humankind) the levels of this enzyme decline drastically after the weaning phase (a trait known as lactase non-persistence (LNP)), some other individuals are capable of mai...

Citations

... It is assumed that lactase persistence (LP) alleles have undergone a positive selection simultaneously with the spread of agriculture [11][12][13]. The average frequency of lactase persistence is higher in northern Europe, moderate in southern Europe, the Middle East and low in some Asian and African communities [11,[14][15]. Their evolutionary advantage provides access to nutrient-dense dairy products and liquids sources, which is critical for the populations living in hot, arid environments [14]. ...
... The average frequency of lactase persistence is higher in northern Europe, moderate in southern Europe, the Middle East and low in some Asian and African communities [11,[14][15]. Their evolutionary advantage provides access to nutrient-dense dairy products and liquids sources, which is critical for the populations living in hot, arid environments [14]. ...
Preprint
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Background Lactase 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 deficiency, is still affecting large numbers of people worldwide. Methods We performed the largest multiethnic genetic study of lactase deficiency 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. Results It 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 deficiency genotype in the East Slavs group was 42.8% (95% CI: 42.1–43.4%). We also investigated the regional prevalence of lactase deficiency by current place of residence. Conclusions Our study emphasizes the diagnostic significance of genetic testing, i.e. specifically for lactose intolerance parameter, as well as the scale of the problem of lactase deficiency in Russia which needs to be addressed by healthcare and food industry.
... As previously stated, lactase-phlorizin hydrolase (LPH), a β-galactosidase belonging to the class of hydrolases, is the enzyme responsible for lactose digestion [49]. LPH is essential for the nourishment of neonatal mammals because lactose itself cannot be absorbed and needs to be cleaved in the intestinal lumen before proper digestion. ...
Article
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The recent growing interest in lactose intolerance has resulted in the proliferation of lactose-free products by food manufacturing companies. Since updated papers about lactose and its uses are missing, the main purpose of this review is to investigate this sugar comprehensively. Firstly, its chemical and physical characteristics were studied, following its employment in the food and drug industries. The positive and negative health-related effects of lactose are reported, focusing on the condition of lactose intolerance, for which an adequate lactose-free diet has to be followed to avoid symptoms that impairs quality of life. Considering that EU legislation on lactose-free product labelling is still controversial, suitable options for producing and identifying lactose-free products are suggested, in order to meet lactose-intolerant people’s needs.
... One illustrative example is the APOE gene, in which a two-SNP haplotype may modulate an individual's risk of late-onset Alzheimer's disease by approximately 15x [1]. Another example is the ability to digest lactose into adulthood, which can be fully predicted on the basis of just six SNPs in the MCM6 gene, among which a single heterozygous-or homozygous-derived genotype implies lactose tolerance [2]. Similarly, dietary tolerance to fructose can be predicted by the presence of a few different combinations of homozygous mutations in the ALDOB gene [3]. ...
Article
Full-text available
The vast majority of human traits, including many disease phenotypes, are affected by alleles at numerous genomic loci. With a continually increasing set of variants with published clinical disease or biomarker associations, an easy-to-use tool for non-programmers to rapidly screen VCF files for risk alleles is needed. We have developed EZTraits as a tool to quickly evaluate genotype data against a set of rules defined by the user. These rules can be defined directly in the scripting language Lua, for genotype calls using variant ID (RS number) or chromosomal position. Alternatively, EZTraits can parse simple and intuitive text including concepts like ’any’ or ’all’. Thus, EZTraits is designed to support rapid genetic analysis and hypothesis-testing by researchers, regardless of programming experience or technical background. The software is implemented in C++ and compiles and runs on Linux and MacOS. The source code is available under the MIT license from https://github.com/selfdecode/rd-eztraits.
... 60 Familial lactose intolerance is caused by the decrease in the expression of the LCT gene on chromosome 2q21. 61 At present, possible shared pathways between FAquaU and other genetic diseases are still unclear and need further studies. ...
Article
Background Aquagenic urticaria (AquaU) is a rare variant of chronic inducible urticaria where wheals occur after skin contact with water. Information on clinical manifestations and treatment outcomes is limited, which makes the management of AquaU challenging. Objective To systematically review disease features and relevant triggers of AquaU and patients’ response to treatment. Methods Related articles were searched by use of the terms “aquagenic urticaria” and “aquagenic angioedema” until June 2021 and reviewed according to Preferred Reporting Items for Systematic Reviews and Meta-analysis recommendations. Results A total of 77 AquaU patients were investigated in 59 studies including 47 case reports and 12 case series. AquaU predominantly presented in women (47 patients, 61%), and the mean age of onset of the disease was 19.6±10.8 years (range: 0-54 years). Wheals commonly occurred in localized areas and regardless of the water temperature. Based on the reviewed evidence, AquaU can be classified as familial AquaU (FAquaU, 18.2%) and acquired AquaU (AAquaU, 81.8%). Although many treatments were used in both subtypes of AquaU, the use of second-generation H1 antihistamines (2ndAH1) was reported most often to achieve marked improvement in both subtypes. The use of topical therapies in AquaU, which most commonly use hydrophobic vehicles, is poorly documented and of controversial efficiency. Conclusions AquaU is proposed to be classified into 2 subtypes, FAquaU and the more common AAquaU. Treatment with a 2ndAH1 is recommended as the first-line treatment for both types of AquaU. Further studies are required to fill knowledge gaps.
... Some nations are characterized by wide internal variation. Differences between countries or even within regions have a sound basis in history-migration, domestication of cattle, or ethnic composition plays a role in the global distribution of lactose intolerance [12,13]. Lactose malabsorption can be categorized into four groups, according to the World Allergy Organization (WAO): ...
... Some nations are characterized by wide internal variation. Differences between countries or even within regions have a sound basis in history-migration, domestication of cattle, or ethnic composition plays a role in the global distribution of lactose intolerance [12,13]. ...
Article
Full-text available
Lactose intolerance and constipation are common in children and impact everyday life, not only for patients but also their families. Both conditions can be comorbid with other diseases or form a part of their clinical presentation, but constipation is not usually associated with lactose intolerance. The typical symptoms of lactose intolerance include abdominal pain, bloating, flatus, diarrhoea, borborygmi, and less frequently nausea and vomiting. In approximately 30% of cases, constipation can be a symptom of lactose intolerance. Constipation is characterized by infrequent bowel movements, hard and/or large stools, painful defecation, and faecal incontinence, and is often accompanied by abdominal pain. This paper provides a narrative review on lactose intolerance, its epidemiology, pathogenesis, the correlation between lactose intolerance and constipation in children, and potential mechanisms of such association.
... Naringenin is subsequently absorbed into the circulatory system and engaged in extensive phase I and phase II metabolism, giving rise to several other aglycones (apigenin, eriodictyol, homoeriodictyol, and hesperetin) and corresponding conjugates (glucuronides, sulfates) [16]. The enzymes involved in the above-mentioned metabolic process, such as lactase-phlorizin hydrolase, UDP-glucuronosyltransferases, and sulfotransferase, have been documented to have genetic polymorphisms [20][21][22]. The polymorphism of enzyme expression and activity undoubtedly affects the metabolism and excretion of naringin in vivo [23]. ...
Article
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Naringin is a dietary flavonoid glycoside with multiple bioactivities. It has been involved in numerous metabolism and excretion studies, and its metabolic properties are clear. However, information concerning the excretion profile of its original metabolites are still scarce, and few methods for simultaneous determination of multiple original metabolites of naringin in biological samples have been reported so far. In this study, a rapid and sensitive method for simultaneous determination of ten flavonoid metabolites of naringin in rat urine was developed with an UHPLC-Q-Trap-MS/MS system. One-step protein precipitation method with acetonitrile was used to extract analytes. A rapid chromatographic separation within 11 min was performed on an ACQUITY UPLC® BEH C18 column (2.1 mm × 50 mm, 1.7 μm) using gradient elution with a mobile phase of water and methanol, both with 0.1% formic acid (v/v). MS/MS detection was conducted in negative ion mode and multiple reactions monitoring scanning mode. The analytical method was fully validated and successfully applied to monitor the excretion profiles of naringin in rat urine. Quantitative results revealed the visible individual difference and low urinary recovery of flavonoid metabolites in the excretion of naringin, which may be helpful for further study to understand the in vivo behavior and action mechanism of naringin.
... Researchers have utilized this data to extract knowledge about evolutionary processes such as natural selection (Fariello et al., 2013;Stern et al., 2021;Dilber and Terhorst, 2022), migration (Cann et al., 1987;Petkova et al., 2016;Al-Asadi et al., 2019), and recombination (Li and Stephens, 2003;Chan et al., 2012;Kamm et al., 2016). Human sequence data have even helped scientists link diseases to different genetic variants (Sun et al., 2022) and illuminate why lactose intolerance is more prevalent in Asia than in Europe (Sahi, 1994;Anguita-Ruiz et al., 2020). ...
Thesis
Genetic sequences carry a wealth of information. Scientists and statisticians have utilized genetic variation data to answer a wide range of questions in evolutionary biology and epidemiology. With the advent of high throughput sequencing, the availability of genetic sequence data has exploded this century. While the unprecedented amount of genetic data available presents an opportunity to garner a deeper understanding about viruses and humans, making use of large volumes of genetic data is still a challenging problem. In what is to follow, we present three methods that tackle various problems analyzing genetic variation data. First, we introduce the framework known as the sequentially Markov coalescent (SMC), which enables likelihood based inference using hidden Markov models (HMMs) where the latent variables represent genealogies. While genealogies are continuous, HMMs are discrete, requiring SMC based methods to discretize genealogies. This discretization often leads to biased and noisy estimates of the population size history. We introduce a method that avoids the need for discretization leading to Bayesian and frequentist inference procedures that are faster and less biased than its predecessors. Additionally, while coalescent HMMs based on SMC can be decoded in linear time, there does not yet exist a linear time EM algorithm for coalescent HMMs based on SMC', the more accurate approximation. We present a linear time EM algorithm based on SMC'. Advantages of this method include increased accuracy, computation time, uncertainty quantification, and ability to incorporate regularization. Lastly, we present a new approach for estimating transmission and recovery rates of viruses using genetic sequence data. With the outbreak of the SARS-CoV-2, there are millions of genomic sequences available to analyze, but few methods to exploit the information contained in these sequences. By integrating recent advances in Bayesian inference and differentiable programming with phylodynamics, we provide a method capable of estimating transmission, recovery, and sampling of pathogens using thousands of sequences. We apply our method to SARS-CoV-2 data and find that our estimates of the effective reproductive number closely match other estimates from methods based on public health data.
... A decrease in lactase activity, progressing with age (LNP), is generated by genotypes -13910CC and -22018GG, while lifelong high lactase activity (LP) is produced by the presence of -13910CT and -13910TT as well as -22018GA and -22018AA genotypes. Recently, the role of DNA methylation in LNP/LP has also been reported [6]. ...
Article
Full-text available
Background In adulthood the activity of the lactase enzyme is inherited as autosomal dominant form associated to Single nucleotide polymorphisms (SNPs). The present research was aimed to develop a novel genetic method to test lactase non persistence more powerfully. Methods and results In our study, we selected eight different SNPs that are associated with lactase persistence from Caucasian, Arabian Bedouins, sub-Saharian Africans and Asian populations to set up an approach to detect all the eight different SNPs at the same time in the same sample. This technique is centred on the identification of SNPs with a single nucleotide primer extension method using Sanger sequencing and capillary electrophoresis. Conclusions Our method allowed us to check the genotype asset of eight SNPs related to lactase persistence simultaneously and in a very efficient manner. It could be applied to a higher number of SNPs in a single reaction.
... One illustrative example is the APOE gene, in which a two-SNP haplotype may modulate an individual's risk of late-onset Alzheimer's disease by approximately 15x [2]. Another example is the ability to digest lactose into adulthood, which can be fully predicted on the basis of just six SNPs in the MCM6 gene, among which a single heterozygous-or homozygous-derived genotype implies lactose tolerance [3]. Similarly, dietary tolerance to fructose can be predicted by the presence of a few different combinations of homozygous mutations in the ALDOB gene [4]. ...
Preprint
Full-text available
The vast majority of human traits, including many disease phenotypes, are affected by alleles at numerous genomic loci. With a continually increasing set of variants with published clinical disease or biomarker associations, an easy-to-use tool for non-programmers to rapidly screen VCF files for risk alleles is needed. We have developed EZTraits as a tool to quickly evaluate genotype data (e.g., from microarrays) against a set of rules defined by the user. These rules can be defined directly in the scripting language Lua , for genotype calls using variant ID (RS number) or chromosomal position. Alternatively, EZTraits can parse simple and intuitive text including concepts like ‘ any ’ or ‘ all ’. Thus, EZTraits is designed to support rapid genetic analysis and hypothesis-testing by researchers, regardless of programming experience or technical background. The software is implemented in C++ and compiles and runs on Linux and MacOS. The source code is available under the MIT license from https://github.com/selfdecode/rd-eztraits Contact: manfred@selfdecode.com
... It is important to highlight that the gut microbiota composition and epigenetics modifications affect the manifestation of lactose intolerance-associated events, attenuating or eliminating them in individuals who typically cannot digest the disaccharide (Zhong et al., 2004;He et al., 2008;Labrie et al., 2016;Anguita-Ruiz et al., 2020). The manifestation of these events is also dependent on the lactose concentration of the food, which tends to be reduced in fermented dairy foods, such as cheese and yogurt (Buttriss, 1997). ...
Article
Full-text available
In adulthood, the ability to digest lactose, the main sugar present in milk of mammals, is a phenotype (lactase persistence) observed in historically herder populations, mainly Northern Europeans, Eastern Africans, and Middle Eastern nomads. As the –13910 ∗ T allele in the MCM6 gene is the most well-characterized allele responsible for the lactase persistence phenotype, the –13910C > T (rs4988235) polymorphism is commonly evaluated in lactase persistence studies. Lactase non-persistent adults may develop symptoms of lactose intolerance when consuming dairy products. In the Americas, there is no evidence of the consumption of these products until the arrival of Europeans. However, several American countries’ dietary guidelines recommend consuming dairy for adequate human nutrition and health promotion. Considering the extensive use of dairy and the complex ancestry of Pan-American admixed populations, we studied the distribution of –13910C > T lactase persistence genotypes and its flanking haplotypes of European origin in 7,428 individuals from several Pan-American admixed populations. We found that the –13910 ∗ T allele frequency in Pan-American admixed populations is directly correlated with allele frequency of the European sources. Moreover, we did not observe any overrepresentation of European haplotypes in the –13910C > T flanking region, suggesting no selective pressure after admixture in the Americas. Finally, considering the dominant effect of the –13910 ∗ T allele, our results indicate that Pan-American admixed populations are likely to have higher frequency of lactose intolerance, suggesting that general dietary guidelines deserve further evaluation across the continent.