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1.
An original Eurasian haplotype, HLA-DRB1*14:54-DQB1*05:03, influences the susceptibility to idiopathic achalasia.
Furuzawa-Carballeda, J, Zuñiga, J, Hernández-Zaragoza, DI, Barquera, R, Marques-García, E, Jiménez-Alvarez, L, Cruz-Lagunas, A, Ramírez, G, Regino, NE, Espinosa-Soto, R, et al
PloS one. 2018;(8):e0201676
Abstract
Idiopathic achalasia is a relatively infrequent esophageal motor disorder for which major histocompatibility complex (MHC) genes are well-identified risk factors. However, no information about HLA-achalasia susceptibility in Mexicans has previously been reported. We studied a group of 91 patients diagnosed with achalasia and 234 healthy controls with Mexican admixed ancestry. HLA alleles and conserved extended haplotypes were analyzed using high-resolution HLA typing based on Sanger and next-generation sequencing technologies. Admixture estimates were determined using HLA-B and short tandem repeats. Results were analyzed by non-parametric statistical analysis and Bonferroni correction. P-values < 0.05 were considered significant. Patients with achalasia had 56.7% Native American genes, 24.7% European genes, 16.5% African genes and 2.0% Asian genes, which was comparable with the estimates in the controls. Significant increases in the frequencies of alleles DRB1*14:54 and DQB1*05:03 and the extended haplotypes DRB1*14:54-DQB1*05:03 and DRB1*11:01-DQB1*03:01, even after Bonferroni correction (pC<0.05), were found in the achalasia group compared to those in the controls. Concluding, the HLA class II alleles HLA-DRB1*14:54:01 and DQB1*05:03:01 and the extended haplotype are risk factors for achalasia in mixed-ancestry Mexican individuals. These results also suggest that the HLA-DRB1*14:54-DQB1*05:03 haplotype was introduced by admixture with European and/or Asian populations.
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2.
Prevalence of excess body weight and underweight among 26 Chinese ethnic minority children and adolescents in 2014: a cross-sectional observational study.
Dong, Y, Zou, Z, Yang, Z, Wang, Z, Yang, Y, Ma, J, Dong, B, Ma, Y, Arnold, L
BMC public health. 2018;(1):562
Abstract
BACKGROUND Little is known regarding the nutritional burden in Chinese ethnic minority children. This study aimed to investigate the epidemiological characteristics of excess body weight and underweight for 26 ethnic groups. METHODS Data on 80,821 participants aged 7-18 years across 26 minorities, with completed records from a large national cross-sectional survey, were obtained from Chinese National Survey on Students' Constitution and Health (CNSSCH) in 2014. Excess body weight, underweight and their components were classified according to Chinese national BMI references. RESULTS The overall prevalence of excess body weight and underweight among ethnic groups were 12.0% and 14.5%, in which 4.4% and 4.1% of the participants were classified as obese and severe wasting, respectively. Compared with girls, boys showed a higher prevalence of underweight, severe wasting and obesity, but a lower prevalence of excess body weight (P < 0.05). Among 26 ethnic groups, Koreans had the highest prevalence of excess body weight (30.4%), while Bouyeis showed the highest prevalence of underweight (25.7%). The ethnic minority groups with high prevalence of excess body weight and underweight were more likely to show high burden of obesity and severe wasting, respectively. However, it is not the case for some groups, such as Miaos and Shuis. CONCLUSIONS A worrying dual burden of excess body weight and underweight was recognized in Chinese ethnic minority children. Since various characteristics were found among different minorities, the ethnic-specific effort is warranted to improve their nutritional status.
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3.
Influence of ethnicity on population reference values for biochemical markers.
Tahmasebi, H, Trajcevski, K, Higgins, V, Adeli, K
Critical reviews in clinical laboratory sciences. 2018;(5):359-375
Abstract
Reference intervals (RIs) for biochemical and hematological markers determined using healthy adult and/or pediatric populations are vital for clinical interpretation of laboratory test results. Most clinical laboratories commonly use age- and sex-specific RIs, but the effect of ethnicity as a covariate is often overlooked. Ethnic differences in serum biomarker concentrations can occur as a result of genetic and environmental factors, while the degree to which each factor influences serum levels depends on the specific biomarker. Numerous studies have investigated ethnic differences in routine chemistry, fertility, endocrine, cancer, and hematological markers, as well as in vitamins and carotenoids, in children, adolescents and adults. In the present review, we summarize and discuss ethnic-specific differences observed for these laboratory markers and their potential impact on the clinical interpretation of laboratory test results. We categorized the available data into seven major ethnic groups (i.e. Black, Caucasian, East Asian, Hispanic, South Asian, South East Asian, and West Asian) for ease of comparison. While certain biomarkers could not be compared between ethnic groups because of insufficient information or contradictory results between studies, significant differences between ethnic groups were reported by one or more studies for most of the biomarkers included in this review. The clinical significance of these differences and the potential need for ethnic-specific RIs for certain biochemical markers are also discussed.
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The Association of Acylcarnitines and Amino Acids With Age in Dutch and South-Asian Surinamese Living in Amsterdam.
Muilwijk, M, Vaz, FM, Celis-Morales, C, Peters, RJG, van Valkengoed, IGM
The Journal of clinical endocrinology and metabolism. 2018;(10):3783-3791
Abstract
CONTEXT Type 2 diabetes and cardiovascular disease occur more frequently and at a younger age in South-Asians than Europeans. This may be related to differences in regulation of the fatty acid metabolism during aging. We compared age-related acylcarnitine and amino acid concentrations in Dutch and South-Asian Surinamese study participants. METHODS We measured types of acylcarnitine and amino acid concentrations in plasma (by tandem mass spectrometry) in a random subsample of 350 Dutch and 350 South-Asian Surinamese origin participants of the Healthy Life in an Urban Setting study (Amsterdam, Netherlands). We derived principal components (PCs) from the metabolites. Linear regression was used to assess differences in PCs and individual metabolite concentrations, and their age trends between the groups by sex. We adjusted for body mass index and intake of fat and total energy. RESULTS Mean age was 44.8 (SD, 13.3) years. Amino acid concentrations were higher among South-Asian Surinamese women compared with Dutch women; acylcarnitine and amino acid levels were higher among South-Asian Surinamese men than Dutch men. Metabolite levels increased similarly with age in both ethnic groups. Results remained similar after adjustment. CONCLUSION Ethnic differences in metabolite concentrations suggest that fatty acid and amino acid metabolism are more dysregulated among South-Asian Surinamese compared with Dutch from a young age. During adulthood, metabolites increase similarly in both ethnic groups.
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5.
Pharmacogenomics study of thiazide diuretics and QT interval in multi-ethnic populations: the cohorts for heart and aging research in genomic epidemiology.
Seyerle, AA, Sitlani, CM, Noordam, R, Gogarten, SM, Li, J, Li, X, Evans, DS, Sun, F, Laaksonen, MA, Isaacs, A, et al
The pharmacogenomics journal. 2018;(2):215-226
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Abstract
Thiazide diuretics, commonly used antihypertensives, may cause QT interval (QT) prolongation, a risk factor for highly fatal and difficult to predict ventricular arrhythmias. We examined whether common single-nucleotide polymorphisms (SNPs) modified the association between thiazide use and QT or its component parts (QRS interval, JT interval) by performing ancestry-specific, trans-ethnic and cross-phenotype genome-wide analyses of European (66%), African American (15%) and Hispanic (19%) populations (N=78 199), leveraging longitudinal data, incorporating corrected standard errors to account for underestimation of interaction estimate variances and evaluating evidence for pathway enrichment. Although no loci achieved genome-wide significance (P<5 × 10-8), we found suggestive evidence (P<5 × 10-6) for SNPs modifying the thiazide-QT association at 22 loci, including ion transport loci (for example, NELL1, KCNQ3). The biologic plausibility of our suggestive results and simulations demonstrating modest power to detect interaction effects at genome-wide significant levels indicate that larger studies and innovative statistical methods are warranted in future efforts evaluating thiazide-SNP interactions.
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Ethnic and population differences in the genetic predisposition to human obesity.
Stryjecki, C, Alyass, A, Meyre, D
Obesity reviews : an official journal of the International Association for the Study of Obesity. 2018;(1):62-80
Abstract
Obesity rates have escalated to the point of a global pandemic with varying prevalence across ethnic groups. These differences are partially explained by lifestyle factors in addition to genetic predisposition to obesity. This review provides a comprehensive examination of the ethnic differences in the genetic architecture of obesity. Using examples from evolution, heritability, admixture, monogenic and polygenic studies of obesity, we provide explanations for ethnic differences in the prevalence of obesity. The debate over definitions of race and ethnicity, the advantages and limitations of multi-ethnic studies and future directions of research are also discussed. Multi-ethnic studies have great potential to provide a better understanding of ethnic differences in the prevalence of obesity that may result in more targeted and personalized obesity treatments.
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Association between "solute carrier family 30 member 8" (SLC30A8) gene polymorphism and susceptibility to type 2 diabetes mellitus in Chinese Han and minority populations: an updated meta-analysis.
Wang, Y, Duan, L, Yu, S, Liu, X, Han, H, Wang, J, Li, W
Asia Pacific journal of clinical nutrition. 2018;(6):1374-1390
Abstract
BACKGROUND AND OBJECTIVES In China, some studies have been reported that solute carrier family 30 member 8 (SLC30A8) gene polymorphism might increase the risk of T2DM, but some are not. The aim of this meta-analysis was to systematically investigate the association between the rs13266634 polymorphism of the SLC30A8 gene and T2DM in Chinese Han and ethnic minority populations. METHODS AND STUDY DESIGN All published electronic articles were retrieved from Pubmed, Web of Knowledge, Chinese National Knowledge Infrastructure (CNKI), Wanfang database, VIP database and Google scholar. Pooled OR and 95% CI were calculated using random- or fixed-effects models. RESULTS Twenty-five articles involving 62,285 subjects were included in this metaanalysis. Considering the total population, significant associations between the rs13266634 polymorphism and T2DM were observed under the allele model (C vs T: OR=1.23, 95% CI=1.18-1.29), the additive models ( CC vs TT: OR=1.44, 95% CI=1.32-1.56; CC vs CT: OR=1.08, 95% CI=1.02-1.15; CT vs TT: OR=1.25, 95% CI=1.15- 1.37), the dominant model (CC vs CT+TT: OR=1.24, 95% CI=1.17-1.32) and the recessive model (CC+CT vs TT: OR=1.26, 95% CI=1.16-1.35). Based on subgroup analysis, besides the CC vs CT model, these associations were stronger in the ethnic minority groups than in the Han population. Moreover, no association was observed under the CC vs CT model (OR=1.26, 95% CI=0.95-1.66, p=0.105) in ethnic minority groups. CONCLUSIONS Chinese C allele carriers could have an increased risk of T2DM. Well-designed future studies should be conducted with a larger sample size to better understand this association in ethnic minority groups.
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Breastfeeding History and Risk of Stroke Among Parous Postmenopausal Women in the Women's Health Initiative.
Jacobson, LT, Hade, EM, Collins, TC, Margolis, KL, Waring, ME, Van Horn, LV, Silver, B, Sattari, M, Bird, CE, Kimminau, K, et al
Journal of the American Heart Association. 2018;(17):e008739
Abstract
Background Stroke is the third leading cause of death among US Hispanic and non-Hispanic black women aged 65 and older. One factor that may protect against stroke is breastfeeding. Few studies have assessed the association between breastfeeding and stroke and whether this association differs by race and ethnicity. Methods and Results Data were taken from the Women's Health Initiative Observational Study with follow-up through 2010; adjusted hazard ratios for stroke subsequent to childbirth were estimated with Cox regression models accounting for left and right censoring, overall and stratified by race/ethnicity. Of the 80 191 parous women in the Women's Health Initiative Observational Study, 2699 (3.4%) had experienced a stroke within a follow-up period of 12.6 years. The average age was 63.7 years at baseline. Fifty-eight percent (n=46 699) reported ever breastfeeding; 83% were non-Hispanic white, 8% were non-Hispanic black, 4% were Hispanic, and 5% were of other race/ethnicity. After adjustment for nonmodifiable potential confounders, compared with women who had never breastfed, women who reported ever breastfeeding had a 23% lower risk of stroke (adjusted hazard ratio=0.77; 95% confidence interval 0.70-0.83). This association was strongest for non-Hispanic black women (adjusted hazard ratio=0.52; 95% confidence interval 0.37-0.71). Further, breastfeeding for a relatively short duration (1-6 months) was associated with a 19% lower risk of stroke (adjusted hazard ratios=0.81; 95% confidence interval 0.74-0.89). This association appeared stronger with longer breastfeeding duration and among non-Hispanic white and non-Hispanic black women (test for trend P<0.01). Conclusions Study results show an association and dose-response relationship between breastfeeding and lower risk of stroke among postmenopausal women after adjustment for multiple stroke risk factors and lifestyle variables. Further investigation is warranted.
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Genetic history of the African Sahelian populations.
Černý, V, Kulichová, I, Poloni, ES, Nunes, JM, Pereira, L, Mayor, A, Sanchez-Mazas, A
HLA. 2018;(3):153-166
Abstract
From a biogeographic perspective, Africa is subdivided into distinct horizontal belts. Human populations living along the Sahel/Savannah belt south of the Sahara desert have often been overshadowed by extensive studies focusing on other African populations such as hunter-gatherers or Bantu in particular. However, the Sahel together with the Savannah bordering it in the south is a challenging region where people had and still have to cope with harsh climatic conditions and show resilient behaviours. Besides exponentially growing urban populations, several local groups leading various lifestyles and speaking languages belonging to three main linguistic families still live in rural localities across that region today. Thanks to several years of consistent population sampling throughout this area, the genetic history of the African Sahelian populations has been largely reconstructed and a deeper knowledge has been acquired regarding their adaptation to peculiar environments and/or subsistence modes. Distinct exposures to pathogens-in particular, malaria-likely contributed to their genetic differentiation for HLA genes. In addition, although food-producing strategies spread within the Sahel/Savannah belt relatively recently, during the last five millennia according to recent archaeological and archaeobotanical studies, remarkable amounts of genetic differences are also observed between sedentary farmers and more mobile pastoralists at multiple neutral and selected loci, reflecting both demographic effects and genetic adaptations to distinct cultural traits, such as dietary habits.
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The relationship between methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy: A meta-analysis in multiethnic groups.
Chen, D, Wang, J, Dan, Z, Shen, X, Ci, D
Ophthalmic genetics. 2018;(2):200-207
Abstract
BACKGROUND Many studies have analyzed the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and diabetic retinopathy (DR), however, the results remained inconclusive. We therefore aim to address this association by performing a meta-analysis in multiethnic groups. METHODS Related studies were identified from PubMed and Chinese databases up to October 2016. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of the associations. RESULTS A total of 20 studies including 1860 DR cases and 3646 controls were involved in this meta-analysis. In the overall population, we found that MTHFR C677T polymorphism was significantly associated with an increased risk of DR for each genetic model. In this meta-analysis stratified by ethnicity, significantly increased risk of DR with the MTHFR C677T variants was found in the Chinese, Japanese, and Turks populations. CONCLUSIONS Our study suggested that the MTHFR C677T polymorphism may contribute to DR development in multiethnic groups. Studies with larger sample sizes and wider spectrum of populations are warranted to verify this finding.