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1.
Skin colour and vitamin D: An update.
Hanel, A, Carlberg, C
Experimental dermatology. 2020;(9):864-875
Abstract
Homo sapiens evolved in East Africa and had dark skin, hair, and eyes, in order to protect against deleterious consequences of intensive UV radiation at equatorial latitudes. Intensive skin pigmentation was thought to bear the risk of inefficient vitamin D3 synthesis in the skin. This initiated the hypothesis that within the past 75 000 years, in which humans migrated to higher latitudes in Asia and Europe, the need for vitamin D3 synthesis served as an evolutionary driver for skin lightening. In this review, we summarize the recent archeogenomic reconstruction of population admixture in Europe and demonstrate that skin lightening happened as late as 5000 years ago through immigration of lighter pigmented populations from western Anatolia and the Russian steppe but not primarily via evolutionary pressure for vitamin D3 synthesis. We show that variations in genes encoding for proteins being responsible for the transport, metabolism and signalling of vitamin D provide alternative mechanisms of adaptation to a life in northern latitudes without suffering from consequences of vitamin D deficiency. This includes hypotheses explaining differences in the vitamin D status and response index of European populations.
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Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples.
Romani, C, Manti, F, Nardecchia, F, Valentini, F, Fallarino, N, Carducci, C, De Leo, S, MacDonald, A, Palermo, L, Leuzzi, V
Nutrients. 2020;(10)
Abstract
We aimed to assess if the same cognitive batteries can be used cross-nationally to monitor the effect of Phenylketonuria (PKU). We assessed whether a battery, previously used with English adults with PKU (AwPKU), was also sensitive to impairments in Italian AwPKU. From our original battery, we selected a number of tasks that comprehensively assessed visual attention, visuo-motor coordination, executive functions (particularly, reasoning, planning, and monitoring), sustained attention, and verbal and visual memory and learning. When verbal stimuli/or responses were involved, stimuli were closely matched between the two languages for psycholinguistic variables. We administered the tasks to 19 Italian AwPKU and 19 Italian matched controls and compared results from with 19 English AwPKU and 19 English matched controls selected from a previously tested cohort. Participant election was blind to cognitive performance and metabolic control, but participants were closely matched for age and education. The Italian AwPKU group had slightly worse metabolic control but showed levels of performance and patterns of impairment similar to the English AwPKU group. The Italian results also showed extensive correlations between adult cognitive measures and metabolic measures across the life span, both in terms of Phenylalanine (Phe) levels and Phe fluctuations, replicating previous results in English. These results suggest that batteries with the same and/or matched tasks can be used to assess cognitive outcomes across countries allowing results to be compared and accrued. Future studies should explore potential differences in metabolic control across countries to understand what variables make metabolic control easier to achieve.
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Genome-wide meta-analysis of variant-by-diuretic interactions as modulators of lipid traits in persons of European and African ancestry.
de Las Fuentes, L, Sung, YJ, Sitlani, CM, Avery, CL, Bartz, TM, Keyser, C, Evans, DS, Li, X, Musani, SK, Ruiter, R, et al
The pharmacogenomics journal. 2020;(3):482-493
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Hypertension (HTN) is a significant risk factor for cardiovascular morbidity and mortality. Metabolic abnormalities, including adverse cholesterol and triglycerides (TG) profiles, are frequent comorbid findings with HTN and contribute to cardiovascular disease. Diuretics, which are used to treat HTN and heart failure, have been associated with worsening of fasting lipid concentrations. Genome-wide meta-analyses with 39,710 European-ancestry (EA) individuals and 9925 African-ancestry (AA) individuals were performed to identify genetic variants that modify the effect of loop or thiazide diuretic use on blood lipid concentrations. Both longitudinal and cross sectional data were used to compute cohort-specific interaction results, which were then combined through meta-analysis in each ancestry. These ancestry-specific results were further combined through trans-ancestry meta-analysis. Analysis of EA data identified two genome-wide significant (p < 5 × 10-8) loci with single nucleotide variant (SNV)-loop diuretic interaction on TG concentrations (including COL11A1). Analysis of AA data identified one genome-wide significant locus adjacent to BMP2 with SNV-loop diuretic interaction on TG concentrations. Trans-ancestry analysis strengthened evidence of association for SNV-loop diuretic interaction at two loci (KIAA1217 and BAALC). There were few significant SNV-thiazide diuretic interaction associations on TG concentrations and for either diuretic on cholesterol concentrations. Several promising loci were identified that may implicate biologic pathways that contribute to adverse metabolic side effects from diuretic therapy.
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Latest trends in archaeogenetic research of west Eurasians.
Olalde, I, Posth, C
Current opinion in genetics & development. 2020;:36-43
Abstract
During the past ten years, archaeogenetic research has exponentially grown to study the genetic history of human populations, using genome-wide data from large numbers of ancient individuals. Of the entire globe, Europe and the Near East are the regions where ancient DNA data is by far most abundant with over 2500 genomes published at present. In this review, we focus on archaeological contexts that have received less attention in the literature, specifically those associated with west Eurasian hunter-gatherers as well as populations from the Iron Age and later historical periods. In addition, we emphasize a recent shift from continent-wide to regional and even site-specific studies, which is starting to provide novel insights into sociocultural aspects of past societies.
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Genome-Wide Association Meta-Analysis of Individuals of European Ancestry Identifies Suggestive Loci for Sodium Intake, Potassium Intake, and Their Ratio Measured from 24-Hour or Half-Day Urine Samples.
Kho, M, Smith, JA, Verweij, N, Shang, L, Ryan, KA, Zhao, W, Ware, EB, Gansevoort, RT, Irvin, MR, Lee, JE, et al
The Journal of nutrition. 2020;(10):2635-2645
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BACKGROUND Excess sodium intake and insufficient potassium intake are risk factors for hypertension, but there is limited knowledge regarding genetic factors that influence intake. Twenty-hour or half-day urine samples provide robust estimates of sodium and potassium intake, outperforming other measures such as spot urine samples and dietary self-reporting. OBJECTIVE The aim of this study was to investigate genomic regions associated with sodium intake, potassium intake, and sodium-to-potassium ratio measured from 24-h or half-day urine samples. METHODS Using samples of European ancestry (mean age: 54.2 y; 52.3% women), we conducted a meta-analysis of genome-wide association studies in 4 cohorts with 24-h or half-day urine samples (n = 6,519), followed by gene-based analysis. Suggestive loci (P < 10-6) were examined in additional European (n = 844), African (n = 1,246), and Asian (n = 2,475) ancestry samples. RESULTS We found suggestive loci (P < 10-6) for all 3 traits, including 7 for 24-h sodium excretion, 4 for 24-h potassium excretion, and 4 for sodium-to-potassium ratio. The most significant locus was rs77958157 near cocaine- and amphetamine-regulated transcript prepropeptide (CARTPT) , a gene involved in eating behavior and appetite regulation (P = 2.3 × 10-8 with sodium-to-potassium ratio). Two suggestive loci were replicated in additional samples: for sodium excretion, rs12094702 near zinc finger SWIM-type containing 5 (ZSWIM5) was replicated in the Asian ancestry sample reaching Bonferroni-corrected significance (P = 0.007), and for potassium excretion rs34473523 near sodium leak channel (NALCN) was associated at a nominal P value with potassium excretion both in European (P = 0.043) and African (P = 0.043) ancestry cohorts. Gene-based tests identified 1 significant gene for sodium excretion, CDC42 small effector 1 (CDC42SE1), which is associated with blood pressure regulation. CONCLUSIONS We identified multiple suggestive loci for sodium and potassium intake near genes associated with eating behavior, nervous system development and function, and blood pressure regulation in individuals of European ancestry. Further research is needed to replicate these findings and to provide insight into the underlying genetic mechanisms by which these genomic regions influence sodium and potassium intake.
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Weight Loss Experiences of African American, Hispanic, and Non-Hispanic White Men and Women with Type 2 Diabetes: The Look AHEAD Trial.
West, DS, Dutton, G, Delahanty, LM, Hazuda, HP, Rickman, AD, Knowler, WC, Vitolins, MZ, Neiberg, RH, Peters, A, Gee, M, et al
Obesity (Silver Spring, Md.). 2019;(8):1275-1284
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OBJECTIVE The aim of this study was to characterize weight loss, treatment engagement, and weight control strategies utilized by African American, Hispanic, and non-Hispanic white participants in the Action for Health in Diabetes (Look AHEAD) Intensive Lifestyle Intervention by racial/ethnic and sex subgroups. METHODS Weight losses at 1, 4, and 8 years among 2,361 adults with obesity and type 2 diabetes randomized to intervention (31% minority; 42% men) are reported by subgroup. Multivariable models within subgroups examine relative contributions of treatment engagement variables and self-reported weight control behaviors. RESULTS All subgroups averaged weight losses ≥ 5% in year 1 but experienced regain; losses ≥ 5% were sustained at year 8 by non-Hispanic white participants and minority women (but not men). Session attendance was high (≥ 86%) in year 1 and exceeded protocol-specified minimum levels into year 8. Individual session attendance had stronger associations with weight loss among Hispanic and African American participants than non-Hispanic white participants at 4 years (P = 0.04) and 8 years (P = 0.001). Daily self-weighing uptake was considerable in all subgroups and was a prominent factor associated with year 1 weight loss among African American men and women. Greater meal replacement use was strongly associated with poorer 1-year weight losses among African American women. CONCLUSIONS Experiences of minority men and women with diabetes in lifestyle interventions fill important gaps in the literature that can inform treatment delivery.
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Dynamics of attentional bias for food in Dutch and Chinese children and the role of executive control.
Liu, Y, Nederkoorn, C, Roefs, A
Appetite. 2019;:104421
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Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns.
Sliz, E, Kalaoja, M, Ahola-Olli, A, Raitakari, O, Perola, M, Salomaa, V, Lehtimäki, T, Karhu, T, Viinamäki, H, Salmi, M, et al
Journal of medical genetics. 2019;(9):607-616
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BACKGROUND Inflammatory processes contribute to the pathophysiology of multiple chronic conditions. Genetic factors play a crucial role in modulating the inflammatory load, but the exact mechanisms are incompletely understood. OBJECTIVE To assess genetic determinants of 16 circulating cytokines and cell adhesion molecules (inflammatory phenotypes) in Finns. METHODS Genome-wide associations of the inflammatory phenotypes were studied in Northern Finland Birth Cohort 1966 (N=5284). A subsequent meta-analysis was completed for 10 phenotypes available in a previous genome-wide association study, adding up to 13 577 individuals in the study. Complementary association tests were performed to study the effect of the ABO blood types on soluble adhesion molecule levels. RESULTS We identified seven novel and six previously reported genetic associations (p<3.1×10-9). Three loci were associated with soluble vascular cell adhesion molecule-1 (sVCAM-1) level, one of which was the ABO locus that has been previously associated with soluble E-selectin (sE-selectin) and intercellular adhesion molecule-1 (sICAM-1) levels. Our findings suggest that the blood type B associates primarily with sVCAM-1 level, while the A1 subtype shows a robust effect on sE-selectin and sICAM-1 levels. The genotypes in the ABO locus associating with higher soluble adhesion molecule levels tend to associate with lower circulating cholesterol levels and lower cardiovascular disease risk. CONCLUSION The present results extend the knowledge about genetic factors contributing to the inflammatory load. Our findings suggest that two distinct mechanisms contribute to the soluble adhesion molecule levels in the ABO locus and that elevated soluble adhesion molecule levels per se may not increase risk for cardiovascular disease.
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Association of maternal iron deficiency anemia with the risk of gestational diabetes mellitus: a meta-analysis.
Tiongco, RE, Arceo, E, Clemente, B, Pineda-Cortel, MR
Archives of gynecology and obstetrics. 2019;(1):89-95
Abstract
PURPOSE The aim of the study was to conduct a meta-analysis investigating the association of maternal iron deficiency anemia (IDA) and risk of gestational diabetes mellitus (GDM). METHODS Literature search was conducted in various database websites such as PubMed, Cochrane Library, and Web of Science up to 17 June 2018 for related publications written in English. Selected data were extracted from the included studies and were subjected to statistical analysis. Odds ratios (ORs) and 95% confidence intervals (CIs) were computed, pooled, and interpreted. Subgroup analysis by ethnicity (Asians vs. Caucasians) was also performed. RESULTS Six studies with a total sample size of 15,157 from various countries were included in this meta-analysis. Pooled ORs of all publications included show that pregnant women with IDA have a reduced risk of developing GDM (OR 0.61; 95% CI 0.47-0.80; PA = 0.0003). Subgroup analysis, on the other hand, showed significant associations among Asians (OR 0.60; 95% CI 0.45-0.79; PA = 0.0003) than Caucasians (OR 0.76; 95% CI 0.32-1.76; PA = 0.52). CONCLUSION Results of this meta-analysis suggests that pregnant women with IDA are 39% less likely to develop GDM. However, more studies are needed to confirm the claims of our results.
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Cultural Moderation of Unconscious Hedonic Responses to Food.
Sato, W, Rymarczyk, K, Minemoto, K, Wojciechowski, J, Hyniewska, S
Nutrients. 2019;(11)
Abstract
Previous psychological studies have shown that images of food elicit hedonic responses, either consciously or unconsciously, and that participants' cultural experiences moderate conscious hedonic ratings of food. However, whether cultural factors moderate unconscious hedonic responses to food remains unknown. We investigated this issue in Polish and Japanese participants using the subliminal affective priming paradigm. Images of international fast food and domestic Japanese food were presented subliminally as prime stimuli. Participants rated their preferences for the subsequently presented target ideographs. Participants also rated their preferences for supraliminally presented food images. In the subliminal rating task, Polish participants showed higher preference ratings for fast food primes than for Japanese food primes, whereas Japanese participants showed comparable preference ratings across these two conditions. In the supraliminal rating task, both Polish and Japanese participants reported comparable preferences for fast and Japanese food stimuli. These results suggest that cultural experiences moderate unconscious hedonic responses to food, which may not be detected based on explicit ratings.