PMC:10048713 / 1990-9657
Annnotations
PubTator4TogoVar
{"project":"PubTator4TogoVar","denotations":[{"id":"9627","span":{"begin":4721,"end":4731},"obj":"SNP"},{"id":"9631","span":{"begin":4697,"end":4705},"obj":"SNP"},{"id":"9632","span":{"begin":4707,"end":4716},"obj":"SNP"},{"id":"9638","span":{"begin":6304,"end":6313},"obj":"SNP"},{"id":"9642","span":{"begin":5815,"end":5820},"obj":"SNP"},{"id":"9643","span":{"begin":5805,"end":5814},"obj":"SNP"},{"id":"9645","span":{"begin":5492,"end":5501},"obj":"SNP"}],"attributes":[{"id":"A9627","pred":"resolved_to","subj":"9627","obj":"tmVar:rs10246939;VariantGroup:5;CorrespondingGene:5726;RS#:10246939;CorrespondingSpecies:9606"},{"id":"A9631","pred":"resolved_to","subj":"9631","obj":"tmVar:rs713598;VariantGroup:1;CorrespondingGene:5726;RS#:713598;CorrespondingSpecies:9606"},{"id":"A9632","pred":"resolved_to","subj":"9632","obj":"tmVar:rs1726866;VariantGroup:4;CorrespondingGene:5726;RS#:1726866;CorrespondingSpecies:9606"},{"id":"A9638","pred":"resolved_to","subj":"9638","obj":"tmVar:rs1229984;VariantGroup:2;CorrespondingGene:125;RS#:1229984;CorrespondingSpecies:9606"},{"id":"A9642","pred":"resolved_to","subj":"9642","obj":"tmVar:rs698;VariantGroup:8;CorrespondingGene:126;RS#:698;CorrespondingSpecies:9606"},{"id":"A9643","pred":"resolved_to","subj":"9643","obj":"tmVar:rs1693482;VariantGroup:10;CorrespondingGene:126;RS#:1693482;CorrespondingSpecies:9606"},{"id":"A9645","pred":"resolved_to","subj":"9645","obj":"tmVar:rs1229984;VariantGroup:2;CorrespondingGene:125;RS#:1229984;CorrespondingSpecies:9606"}],"text":"1. Introduction\nHazardous drinking is a significant public health problem contributing to the development of more than 200 diseases and injuries [1] and resulting in 1.78 million deaths in 2020 worldwide [2]. In addition, among people 25–49 years of age, alcohol use was found to be the most important risk factor at the global level [3]. Among the many health and public health challenges of the COVID-19 crisis, an increased burden of alcohol consumption evolved during the pandemic situation [4]. Alcohol-related problems do not only arise at the individual level, but harm to others is also considered a substantial problem [1]. Alcohol-related disease burden affects populations disproportionally, the European Region together with Hungary being the most heavily affected [5]. Although alcohol consumption showed a decreasing trend in Hungary [5], in 2019 consumption levels were still above the OECD average and the country was among those nations, which reported consumption over 11 L (calculated for pure alcohol) per capita per year [6]. Furthermore, heavy alcohol use, alcohol use disorder, and dependence are still considered of public health significance [7] (alcohol use disorders: Hungary 21.2% vs. Europe 8.8%; dependence: Hungary 9.4% vs. Europe 3.7%) [5] and Hungary can be characterized with the highest standardized rates for alcohol-attributable mortality in Europe [8].\nAlcohol consumption patterns and related harm vary not only across countries but also within the same country among ethnic groups [9], including the most disadvantaged Roma population of Europe and Hungary [10,11,12,13,14,15,16,17,18,19,20,21,22]. This minority population is mainly accumulated in Central and Eastern Europe [23] with a representation of over 5% of the total population [24] (8.9% of the total population, 876,000 individuals in 2013 in Hungary [25]) and faces discrimination, several barriers when seeking healthcare services, and poorer health outcomes compared to mainstream populations [26,27,28,29,30,31,32,33].\nAlcohol use disorder (AUD) being a complex human trait shows a moderate heritability estimate of 0.49, though familial aggregation may also be due to shared environmental effects [34]. AUD and other alcohol consumption phenotypes are considered distinct but related phenotypes [35] with some overlap of genetic background [36]. These alcohol-related phenotypes can be considered as quantitative traits often measured by varying phenotype assessment methods [35] and are influenced by numerous genetic polymorphisms.\nThe most extensively studied genetic variants regarding AUD and alcohol consumption are involved in the breakdown of alcohol (alcohol and aldehyde dehydrogenase-related genes and variants -ADH and ALDH), especially certain ADH1B and ALDH2 polymorphisms showing the largest effects in Asian populations. Furthermore, polymorphisms of several neurotransmitter-related genes affected by alcohol (i.e., receptors, enzymes, and solute carriers of the cholinergic, dopamine, GABA, serotonin, glutamate, and opioid pathways) have been also subject to several studies [35].\nResearch suggests that oral sensations evoked by consumed beverages may also determine food and alcohol preferences and intake [37,38]. Although five basic taste qualities (bitter, sweet, sour, salty, umami) and the recently identified fat taste exist, bitter and sweet sensitivity has been found to influence alcohol consumption and preferences, though methodological difficulties are not easy to overcome when summarizing the results. Several studies rely on quinine bitterness as a measure for bitterness and others suggest PROP (6-n-propylthiouracil) taster status to be used for orosensory responsiveness for bitter and also use it as a marker for bitter sensitivity and preference. Several research groups found associations between PROP responsiveness and alcohol consumption behaviors [37,38]. Furthermore, wine/alcohol bitterness was also found to be associated with TAS2R38 genetic variants, which has been widely investigated in relation to bitter and sweet taste preferences [38]. It was also shown that sweet-likers may be at an enhanced risk for the development of alcohol use disorders, which may be in connection with the sugar content of alcoholic beverages associated with the human neural reward system [37].\nAlthough less extensively studied compared to alcohol metabolizing gene polymorphism and genetic variants related to neurotransmitters, whose levels are altered through drinking of alcohol, taste preference-related genetic variants may also influence alcohol consumption patterns. As investigated in the literature, most of the studies focus on TAS2R38 variants rs713598, rs1726866 and rs10246939 [39,40,41,42,43,44,45,46,47,48,49,50,51,52,53] followed by mainly other TAS2R gene [43,45,46,54,55] and gustducin (CA6) variants [45,48]. Although the results related to single nucleotide polymorphisms (SNPs) of taste preference genes and alcohol consumption patterns were found to be conflicting and/or the number of studies in the literature was scarce [56], it may be still hypothesized that genetic polymorphisms related to bitter and sweet taste preferences may mediate alcohol consumption patterns in some way.\nThe number of genetic association studies investigating alcohol consumption behaviors of Roma communities in comparison with the relevant mainstream populations of different countries is also very limited. One study in Hungary found the ADH1B rs1229984 (carrying the ADH1B*2 allele) to decrease drinking frequency, furthermore, it was associated with lower odds for having more positive answers on the CAGE screening tool (Cut-down, Annoyed, Guilty, Eye-opener) and also for positive CAGE screening status [57]. In addition, the 272Gln/35Val allele (ADH1C rs1693482/rs698) homozygosity was demonstrated to increase the risk of excessive and problem drinking among men aged 45–64 years [58]. Another study analyzing the distribution and combined effect of alcohol metabolism and neurotransmitter gene polymorphisms in the general Hungarian and Roma populations found no over-representation of genetic alterations predisposing to alcohol dependence and lower genetic risk scores in the minority population [59]. Furthermore, Hubáček et al. identified ADH1B rs1229984 genotype frequencies in the Czech Roma population corresponding with frequencies of North India/Central Asia [60]. On the other hand, alcohol consumption phenotypes in relation to taste preference-related genetic variants in Roma populations in comparison with majority populations have not been investigated before [56].\nThe majority of genetic association studies investigating taste preference gene polymorphisms focused on drinking frequency and/or quantity [56]. Among these, the only study, which characterized alcohol consumption with the Alcohol Use Disorders Identification Test (AUDIT) used the first three questions of the questionnaire [46]. In our past work we characterized the alcohol consumption patterns of HG and HR populations and found no differences in risky alcohol use based on the AUDIT total scores between Roma and non-Roma [61]. Therefore, our present work aimed to elucidate the underlying genetic determinants of alcohol consumption patterns considering taste preference genetic variants in the Hungarian general (HG) and Roma (HR) populations using the first three questions of the AUDIT.\nThe potential genetically determined taste-driven preferences behind Hungary’s alcohol consumption levels should be considered when targeting alcohol-related harm considering also the possible ethnic-specific effect of these variants."}
PubTatorOnTogoVar
{"project":"PubTatorOnTogoVar","denotations":[{"id":"1027","span":{"begin":4707,"end":4716},"obj":"SNP"},{"id":"1030","span":{"begin":4721,"end":4731},"obj":"SNP"},{"id":"1031","span":{"begin":4697,"end":4705},"obj":"SNP"},{"id":"1037","span":{"begin":6304,"end":6313},"obj":"SNP"},{"id":"1041","span":{"begin":5815,"end":5820},"obj":"SNP"},{"id":"1042","span":{"begin":5805,"end":5814},"obj":"SNP"},{"id":"1044","span":{"begin":5492,"end":5501},"obj":"SNP"},{"id":"T1","span":{"begin":4707,"end":4716},"obj":"SNP"},{"id":"T2","span":{"begin":4721,"end":4731},"obj":"SNP"},{"id":"T3","span":{"begin":4697,"end":4705},"obj":"SNP"},{"id":"T1","span":{"begin":6304,"end":6313},"obj":"SNP"},{"id":"T2","span":{"begin":5815,"end":5820},"obj":"SNP"},{"id":"T3","span":{"begin":5805,"end":5814},"obj":"SNP"},{"id":"T4","span":{"begin":5492,"end":5501},"obj":"SNP"}],"attributes":[{"id":"A1027","pred":"resolved_to","subj":"1027","obj":"tmVar:rs1726866;VariantGroup:7;CorrespondingGene:5726;RS#:1726866;CorrespondingSpecies:9606"},{"id":"A1030","pred":"resolved_to","subj":"1030","obj":"tmVar:rs10246939;VariantGroup:4;CorrespondingGene:5726;RS#:10246939;CorrespondingSpecies:9606"},{"id":"A1031","pred":"resolved_to","subj":"1031","obj":"tmVar:rs713598;VariantGroup:1;CorrespondingGene:5726;RS#:713598;CorrespondingSpecies:9606"},{"id":"A1037","pred":"resolved_to","subj":"1037","obj":"tmVar:rs1229984;VariantGroup:2;CorrespondingGene:125;RS#:1229984;CorrespondingSpecies:9606"},{"id":"A1041","pred":"resolved_to","subj":"1041","obj":"tmVar:rs698;VariantGroup:8;CorrespondingGene:126;RS#:698;CorrespondingSpecies:9606"},{"id":"A1042","pred":"resolved_to","subj":"1042","obj":"tmVar:rs1693482;VariantGroup:10;CorrespondingGene:126;RS#:1693482;CorrespondingSpecies:9606"},{"id":"A1044","pred":"resolved_to","subj":"1044","obj":"tmVar:rs1229984;VariantGroup:2;CorrespondingGene:125;RS#:1229984;CorrespondingSpecies:9606"}],"text":"1. Introduction\nHazardous drinking is a significant public health problem contributing to the development of more than 200 diseases and injuries [1] and resulting in 1.78 million deaths in 2020 worldwide [2]. In addition, among people 25–49 years of age, alcohol use was found to be the most important risk factor at the global level [3]. Among the many health and public health challenges of the COVID-19 crisis, an increased burden of alcohol consumption evolved during the pandemic situation [4]. Alcohol-related problems do not only arise at the individual level, but harm to others is also considered a substantial problem [1]. Alcohol-related disease burden affects populations disproportionally, the European Region together with Hungary being the most heavily affected [5]. Although alcohol consumption showed a decreasing trend in Hungary [5], in 2019 consumption levels were still above the OECD average and the country was among those nations, which reported consumption over 11 L (calculated for pure alcohol) per capita per year [6]. Furthermore, heavy alcohol use, alcohol use disorder, and dependence are still considered of public health significance [7] (alcohol use disorders: Hungary 21.2% vs. Europe 8.8%; dependence: Hungary 9.4% vs. Europe 3.7%) [5] and Hungary can be characterized with the highest standardized rates for alcohol-attributable mortality in Europe [8].\nAlcohol consumption patterns and related harm vary not only across countries but also within the same country among ethnic groups [9], including the most disadvantaged Roma population of Europe and Hungary [10,11,12,13,14,15,16,17,18,19,20,21,22]. This minority population is mainly accumulated in Central and Eastern Europe [23] with a representation of over 5% of the total population [24] (8.9% of the total population, 876,000 individuals in 2013 in Hungary [25]) and faces discrimination, several barriers when seeking healthcare services, and poorer health outcomes compared to mainstream populations [26,27,28,29,30,31,32,33].\nAlcohol use disorder (AUD) being a complex human trait shows a moderate heritability estimate of 0.49, though familial aggregation may also be due to shared environmental effects [34]. AUD and other alcohol consumption phenotypes are considered distinct but related phenotypes [35] with some overlap of genetic background [36]. These alcohol-related phenotypes can be considered as quantitative traits often measured by varying phenotype assessment methods [35] and are influenced by numerous genetic polymorphisms.\nThe most extensively studied genetic variants regarding AUD and alcohol consumption are involved in the breakdown of alcohol (alcohol and aldehyde dehydrogenase-related genes and variants -ADH and ALDH), especially certain ADH1B and ALDH2 polymorphisms showing the largest effects in Asian populations. Furthermore, polymorphisms of several neurotransmitter-related genes affected by alcohol (i.e., receptors, enzymes, and solute carriers of the cholinergic, dopamine, GABA, serotonin, glutamate, and opioid pathways) have been also subject to several studies [35].\nResearch suggests that oral sensations evoked by consumed beverages may also determine food and alcohol preferences and intake [37,38]. Although five basic taste qualities (bitter, sweet, sour, salty, umami) and the recently identified fat taste exist, bitter and sweet sensitivity has been found to influence alcohol consumption and preferences, though methodological difficulties are not easy to overcome when summarizing the results. Several studies rely on quinine bitterness as a measure for bitterness and others suggest PROP (6-n-propylthiouracil) taster status to be used for orosensory responsiveness for bitter and also use it as a marker for bitter sensitivity and preference. Several research groups found associations between PROP responsiveness and alcohol consumption behaviors [37,38]. Furthermore, wine/alcohol bitterness was also found to be associated with TAS2R38 genetic variants, which has been widely investigated in relation to bitter and sweet taste preferences [38]. It was also shown that sweet-likers may be at an enhanced risk for the development of alcohol use disorders, which may be in connection with the sugar content of alcoholic beverages associated with the human neural reward system [37].\nAlthough less extensively studied compared to alcohol metabolizing gene polymorphism and genetic variants related to neurotransmitters, whose levels are altered through drinking of alcohol, taste preference-related genetic variants may also influence alcohol consumption patterns. As investigated in the literature, most of the studies focus on TAS2R38 variants rs713598, rs1726866 and rs10246939 [39,40,41,42,43,44,45,46,47,48,49,50,51,52,53] followed by mainly other TAS2R gene [43,45,46,54,55] and gustducin (CA6) variants [45,48]. Although the results related to single nucleotide polymorphisms (SNPs) of taste preference genes and alcohol consumption patterns were found to be conflicting and/or the number of studies in the literature was scarce [56], it may be still hypothesized that genetic polymorphisms related to bitter and sweet taste preferences may mediate alcohol consumption patterns in some way.\nThe number of genetic association studies investigating alcohol consumption behaviors of Roma communities in comparison with the relevant mainstream populations of different countries is also very limited. One study in Hungary found the ADH1B rs1229984 (carrying the ADH1B*2 allele) to decrease drinking frequency, furthermore, it was associated with lower odds for having more positive answers on the CAGE screening tool (Cut-down, Annoyed, Guilty, Eye-opener) and also for positive CAGE screening status [57]. In addition, the 272Gln/35Val allele (ADH1C rs1693482/rs698) homozygosity was demonstrated to increase the risk of excessive and problem drinking among men aged 45–64 years [58]. Another study analyzing the distribution and combined effect of alcohol metabolism and neurotransmitter gene polymorphisms in the general Hungarian and Roma populations found no over-representation of genetic alterations predisposing to alcohol dependence and lower genetic risk scores in the minority population [59]. Furthermore, Hubáček et al. identified ADH1B rs1229984 genotype frequencies in the Czech Roma population corresponding with frequencies of North India/Central Asia [60]. On the other hand, alcohol consumption phenotypes in relation to taste preference-related genetic variants in Roma populations in comparison with majority populations have not been investigated before [56].\nThe majority of genetic association studies investigating taste preference gene polymorphisms focused on drinking frequency and/or quantity [56]. Among these, the only study, which characterized alcohol consumption with the Alcohol Use Disorders Identification Test (AUDIT) used the first three questions of the questionnaire [46]. In our past work we characterized the alcohol consumption patterns of HG and HR populations and found no differences in risky alcohol use based on the AUDIT total scores between Roma and non-Roma [61]. Therefore, our present work aimed to elucidate the underlying genetic determinants of alcohol consumption patterns considering taste preference genetic variants in the Hungarian general (HG) and Roma (HR) populations using the first three questions of the AUDIT.\nThe potential genetically determined taste-driven preferences behind Hungary’s alcohol consumption levels should be considered when targeting alcohol-related harm considering also the possible ethnic-specific effect of these variants."}