More than black and white: differences in predictors of obesity among Native Hawaiian/Pacific Islanders and European Americans

Although Native Hawaiians and Pacific Islanders exhibit the highest rates of obesity and associated chronic diseases of any racial/ethnic group, they remain vastly underrepresented in health research. In a cross-sectional survey of college students (N = 402) we examined BMI and health outcomes in an ethno-racially diverse rural sample of Native Hawaiian/Pacific Islanders (25.1%), Asian Americans (39.8%), and European Americans (35.1%). Measures assessed BMI, health status, health behaviors, frequency of exercise, and symptoms of psychiatric disorders (i.e., depression, anxiety, posttraumatic stress, and substance abuse and dependence). Regression analyses revealed that an overall model of five predictors (gender, race, regular exercise, difficulty sleeping, and anxiety) was significantly associated with obesity (P < 0.001) and correctly classified 84.2% of cases. A 30.7% of Native Hawaiians/Pacific Islanders were obese as compared with 9.2% of European Americans and 10.6% of Asian Americans. These findings suggest that Native Hawaiian/ Pacific Islanders are at high risk for obesity and associated medical comorbidities, but that regular physical activity may ameliorate this risk. Further, these results support the consideration of Native Hawaiians/Pacific Islanders as a distinct racial/ethnic subgroup separate from other Asian populations.     

载脂蛋白E基因多态性检测对ACS患者降脂疗效的影响

目的:探究载脂蛋白E(ApoE)基因多态性检测在急性冠脉综合征(ACS)患者降脂治疗的中应用价值。方法:选取2019年2月~2020年6月180例ACS患者,采用随机数字表法分为A、B、C共3组各60例,各组患者均接受ApoE基因多态性检测,并根据Sanger法测序判断ApoE基因表型(E2、E3、E4表型),A组予以瑞舒伐他汀口服(10 mg/d),B组予以瑞舒伐他汀强化治疗(20 mg/d),C组予以瑞舒伐他汀(10 mg/d)+依折麦布(10 mg/d)口服,连续治疗1个月,评价3组各基因表型血脂[总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白(LDL-C)]改善情况、LDL-C达标率,记录药物副反应,所有患者随访1个月,统计心血管不良事件(MACE)发生情况。结果:3组ApoE基因E2、E3、E4表型构成比无显著差异(P>0.05)。治疗后,各组不同ApoE基因表型TC、TG、LDL-C水平均较治疗前下降,且变化率比较差异有统计学意义(P<0.05),表现为E2型>E3型>E4型;其中,3组E2表型TC、TG、LDL-C水平变化率无显著差异(P>0.05);B组、C组E3表型TC、TG、LDL-C水平变化率均显著高于A组(P<0.05),但B组、C组各指标变化率比较差异无统计学意义(P>0.05);3组E4表型TC、TG、LDL-C水平变化率比较差异有统计学意义(P<0.05),且表现为C组>B组>A组。治疗后,A组LDL-C达标率为61.67%,显著低于B组的85.00%、C组的90.00%(P<0.05);其中,3组E2表型LDL-C达标率比较无显著差异(P>0.05),A组E3表型LDL-C达标率显著低于B组、C组(P<0.05),A组、B组E4表型LDL-C达标率低于C组(P<0.05)。治疗期间,仅B组出现1例ALT超出正常上限3倍,停药后可恢复正常。3组MACE发生率比较差异有统计学意义(P<0.05),表现为A组发生率18.33%明显高于B组5.00%、C组3.33%(P<0.05),但3组E2、E4型MACE发生率均无明显差异(P>0.05),而A组E3型MACE发生率高于B组、C组(P<0.05)。结论:ACS患者降脂疗效与ApoE基因表型有关,对E2表型单用瑞舒伐他汀即可取得良好降脂效果,对E3表型强化瑞舒伐他汀或联合依折麦布治疗较单用瑞舒伐他汀均能提高降脂效果,而对E4表型联合依折麦布降脂效果优于单用瑞舒伐他汀或强化治疗。     

Genetic variation at twentythree microsatellite loci in sixteen human populations

We have analysed genetic variation at 23 microsatellite loci in a global sample of 16 ethnically and geographically diverse human populations. On the basis of their ancestral heritage and geographic locations, the studied populations can be divided into five major groups, viz. African, Caucasian, Asian Mongoloid, American Indian and Pacific Islander. With respect to the distribution of alleles at the 23 loci, large variability exists among the examined populations. However, with the exception of the American Indians and the Pacific Islanders, populations within a continental group show a greater degree of similarity. Phylogenetic analyses based on allele frequencies at the examined loci show that the first split of the present-day human populations had occurred between the Africans and all of the non-African populations, lending support to an African origin of modern human populations. Gene diversity analyses show that the coefficient of gene diversity estimated from the 23 loci is, in general, larger for populations that have remained isolated and probably of smaller effective sizes, such as the American Indians and the Pacific Islanders. These analyses also demonstrate that the component of total gene diversity, which is attributed to variation between groups of populations, is significantly larger than that among populations within each group. The empirical data presented in this work and their analyses reaffirm that evolutionary histories and the extent of genetic variation among human populations can be studied using microsatellite loci.     

Distribution of GPT types in Norway.

GPT phenotype determinations were performed in 4,148 unrelated Norwegians. The frequencies of the two common alleles were Gpt1 = 0.537 and Gpt2 = 0.461. A total of 13 individuals showed the phenotypic expression of 3 rare GPT alleles, Gpt3, Gpt6, and Gpt7. No heterogeneity in phenotype distribution was found, neither in the two sexes nor regionally in Norway. 97 foreigners involved in paternity cases in Norway showed a phenotype distribution not differing from that of Norwegians. In two small additional samples of Ethiopians and Easter Islanders, Gpt1 frequencies were 0.737 and 0.531, respectively. There were significant differences in phenotype distribution between NOrwegians and all African populations tested, some of the Asiatic population, Lapps and a few other populations.     

Dermatoglyphics of Easter Islanders analyzed by pattern type,admixture effect,and ridge count variation

The adult Easter Island population was fingerprinted in 1965 as part of an overall study of their human biology. Major findings of the dermatoglyphic analysis are as follows. Digit and bimanuar percentages of patterns (arches, loops, and whorls) were similar to those observed in Europeans. However, in terms of total pattern type distributions, the Islanders had many more whorls and a correspondingly much higher Pattern Intensity Index than those found in European groups. This difference was even present, although in lesser magnitude, in Easter Islanders known to be admixed with Europeans. Corresponding to a high occurrence of whorls, Mean Total Ridge Count (TRC) was also notably high. An association between TRC as a measure of pattern size and incidence of patterns was clearly evident in several groups available for comparison.     

黔南布依族、苗族和水族人群ABO血型分布及基因频率

本文对黔南州布依族、苗族、水族人群ABO血型的表现型及基因型频率进行检测。结果显示:黔南布依族ABO血型分布为O>B>A>AB;苗族、水族为O>A>B>AB。3个民族ABO血型基因频率相接近;经吻合度检测,符合Hardy-Weinberg平衡定律。黔南与黔东南、黔西南布依族和苗族群体间以及黔南水族男女群体间ABO血型分布差异均具有显著性(P<0.05或P<0.01),结果提示ABO血型分布存在民族、地区和性别差异。     

Genetic and biochemical properties of thialysine-resistant mutants of Saccharomyces cerevisiae

Three groups of lysine-excreting, thialysine-resistant mutants of Saccharomyces cerevisiae were derived from the wild-type strain (X2180) by mutagenic treatment and selected on the basis of a cross-feeding assay. Mutants MNNG2-9, MNNG2-27, MNNG2-39 and MNNG2-62 (group 1) exhibited a 2:2 segregation for thialysine resistance following mating with a wild-type strain and a lower than wild-type lysyl-tRNA synthetase activity; the thialysine-resistant phenotype was dominant in specific hybrids. Mutant MNNG2-2 (group II) was similar to group I mutants except that the thialysine-resistant phenotype was recessive in the hybrid. Mutant MNNG3-142 (group III) exhibited an irregular ratio of segregation of thialysine resistance and a significantly lower lysyl-tRNA synthetase activity; the thialysine-resistant phenotype was recessive in the hybrid. The growth of both group I and group III mutants was temperature-sensitive. The thialysine-resistant mutants exhibited pleiotropic properties including the increased production and excretion of lysine, thermosensitive growth and an impairment of lysyl-tRNA synthetase activity.     

Plasma lipoprotein(a) distribution and its correlates among Samoans

Plasma lipoprotein(a) [Lp(a)]-consisting of a disulfide-linked complex of apolipoprotein B and apolipoprotein (a)--levels are considered to be an independent risk factor for coronary heart disease. There are considerable ethnic group differences in the distribution of plasma Lp(a) levels that raise public health concerns. Although plasma Lp(a) distribution has been determined in various ethnic groups, no such information is available in Pacific Islanders. In this study we have determined the distribution and correlates of plasma Lp(a) in population-based samples of 361 American Samoans (145 men, 216 women) and 560 Western Samoans (265 men, 295 women), aged 20-70 years. Plasma Lp(a) levels were measured using a commercial enzyme-linked immunosorbent assay. The distribution of plasma Lp(a) levels in both groups was highly skewed with 73% and 65% of values in the 0-5 mg/dl range in American Samoans and Western Samoans, respectively. The mean (6.4 mg/dl) and median (2.2 mg/dl) Lp(a) levels in pooled Samoans were significantly lower when compared with other ethnic groups using the same measurement kit. Plasma Lp(a) correlated significantly with total and LDL cholesterol in both genders after correcting for the contribution of Lp(a) cholesterol, and with apolipoprotein B in women after the correction for Lp(a)-apoB, but not with age, smoking, alcohol intake, or body mass index. Our data show that Samoans, Polynesians of Pacific Islands, have strikingly lower Lp(a) levels than all other reported population groups. These data are consistent with the hypothesis that genetic factors account for interethnic group variation in plasma Lp(a) levels.     

Atherosclerotic lesion progression is attenuated by reconstitution with bone marrow from macrophage-specific cholesteryl ester hydrolase transgenic mice

Accumulation of cholesteryl ester (CE)-enriched macrophage foam cells is central to the development of atherosclerotic lesions. Intracellular CE hydrolysis is the rate-limiting step in the removal of free cholesterol from macrophage foam cells. Enhancing this process by transgenic overexpression of CE hydrolase (CEH) resulted in a significant decrease in diet-induced atherosclerosis in LDL receptor-deficient (LDLR-/-) mice. However, for development of this step as an antiatherosclerotic target it is imperative to demonstrate that increase in CE hydrolysis after initiation of lesion formation will also attenuate further lesion progression. The objective of the present study was to directly address this issue using an animal model. LDLR-/- mice were fed a high-fat high-cholesterol diet (Western Diet) for 8 wk to initiate lesion formation and were then divided into three groups. Group 1 mice were killed to determine baseline lesion development. Mice in groups 2 and 3 were irradiated and transplanted with either LDLR-/- or LDLR-/-CEH transgenic bone marrow and maintained on Western Diet. Atherosclerotic lesion progression was assessed after 12 wk. While a more than fourfold increase in total lesions (compared to group 1) was seen in group 2 receiving LDLR-/- marrow, a significantly lower increase (<2-fold) was noted in mice reconstituted with CEH transgenic marrow (group 3). Lesions in group 3 mice were also more cellular with smaller necrotic cores. Lesion progression is associated with a switch in macrophage phenotype from anti-inflammatory M2 to proinflammatory M1 phenotype and is consistent with reduced lesion progression. Aortas from group 3 mice contained a significantly higher percentage of macrophages in M2 phenotype (Ly6C(lo)). These data demonstrate for the first time that enhancing macrophage CE hydrolysis even after lesion initiation can still attenuate further lesion progression and also switches the phenotype of lesion-associated macrophages to anti-inflammatory M2 phenotype establishing intracellular CE hydrolysis as an anti-atherosclerotic as well as anti-inflammatory target.     

The frequency of "rare" protein variants in Marshall islanders and other Micronesians.

Blood specimens from a sample of 373 Marshall Islanders were studied with reference to variants of 23 serum proteins and erythrocyte enzymes. Six of the traits studied exhibited genetic polymorphisms (adenosine deaminase, phosphoglucomutase1, acid phosphatase, 6-phosphogluconate dehydrogenase, haptoglobin, and group specific component). There were in addition four "rare" variants (albumin, transferrin, lactate dehydrogenase, and galactose-1-phosphate uridylyltransferase) involving nine persons, among 8,503 determinations. The frequency of rare variants in Micronesians was compared with the frequencies in West European Caucasians and Amerindians. There are many difficulties in such comparisons, and although the observed values for the three ethnic groups differ by a factor of three (the Micronesians exhibiting the lowest frequency), it is felt that no firm conclusions concerning differences between ethnic groups can be drawn at this time.     

Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network

Using a phenome-wide association study (PheWAS) approach, we comprehensively tested genetic variants for association with phenotypes available for 70,061 study participants in the Population Architecture using Genomics and Epidemiology (PAGE) network. Our aim was to better characterize the genetic architecture of complex traits and identify novel pleiotropic relationships. This PheWAS drew on five population-based studies representing four major racial/ethnic groups (European Americans (EA), African Americans (AA), Hispanics/Mexican-Americans, and Asian/Pacific Islanders) in PAGE, each site with measurements for multiple traits, associated laboratory measures, and intermediate biomarkers. A total of 83 single nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) were genotyped across two or more PAGE study sites. Comprehensive tests of association, stratified by race/ethnicity, were performed, encompassing 4,706 phenotypes mapped to 105 phenotype-classes, and association results were compared across study sites. A total of 111 PheWAS results had significant associations for two or more PAGE study sites with consistent direction of effect with a significance threshold of p<0.01 for the same racial/ethnic group, SNP, and phenotype-class. Among results identified for SNPs previously associated with phenotypes such as lipid traits, type 2 diabetes, and body mass index, 52 replicated previously published genotype–phenotype associations, 26 represented phenotypes closely related to previously known genotype–phenotype associations, and 33 represented potentially novel genotype–phenotype associations with pleiotropic effects. The majority of the potentially novel results were for single PheWAS phenotype-classes, for example, for CDKN2A/B rs1333049 (previously associated with type 2 diabetes in EA) a PheWAS association was identified for hemoglobin levels in AA. Of note, however, GALNT2 rs2144300 (previously associated with high-density lipoprotein cholesterol levels in EA) had multiple potentially novel PheWAS associations, with hypertension related phenotypes in AA and with serum calcium levels and coronary artery disease phenotypes in EA. PheWAS identifies associations for hypothesis generation and exploration of the genetic architecture of complex traits.     

The Rh phenotype r'r' in Polynesians

Since 1970, 19 persons with the r'r' phenotype have been detected at the Auckland Blood Transfusion Centre. All have been Maoris or Pacific Islanders. This study reports the detailed serological investigations on 11 r'r' samples. No evidence was found for the presence of the Du antigen, and there was no evidence that the Polynesian r' was related to the Negroid r'. It is postulated that the r' (Cde) of Polynesians arose from a mutation of CDe. No morphological abnormalities of r'r' red cells were found. Blood samples were also tested for various high- and low-frequency antigens, and one specimen was found to be r'r' Jk(a-b-).     

宁夏回族红细胞血型的研究

调查了219名宁夏回族的 ABO、MNSs、Rhesus、P、Lewis、Duffr、Kidd Diego 、Kell、Lutheran和Xg等11种系统的红细胞血型。结果表明,宁夏回族有较高的q(0.2530)、Fy~a(0.9270)、CDe(0.6225) 和E(0.2660) 等基因或染色体频率;d(0.0557)、s(0.0594)、P_1(0.1316)和 Le~a(0.3882)等基因频率较低;而未发现K和Lu~a基因;Di~a的频率为0.0349,也处于低水平;Ns(0.4984)连锁率高于 Ms(0.4422);Xg~a基因频率为0.4432。11个系统的红细胞血型的分布和遗传距离分析均反映了宁夏回族的遗传组成具有我国北方民族的特征,尤其接近于北方汉族和蒙古族,与新疆维吾尔族则存在较大的差异。     

Love Food: Exchange and Sustenance in the Cook Islands Diaspora

This paper analyses the dynamics of food exchange among Cook Islanders. The majority of Cook Islanders live abroad (primarily in New Zealand and Australia), familial and community relationships are maintained by frequent visits to and from the Cook Islands. For many Cook Islanders, the difference between home and abroad is signified through food. Its lack in New Zealand is contrasted with the bounty of home, bounty of food, and the bounty of sustaining caring relationships. As a result, when Cook Islanders from home visit family abroad, they take large quantities of local food with them. This paper explores the affective materiality of food that travels between Cook Islands     

Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria.

A total of 630 haplotypes for the phenylalanine hydroxylase (PAH) gene locus were established in five groups of Polynesians comprising Samoans, Tongans, Cook Islanders, Maori, and Niueans. Considerable genetic continuity was demonstrated between these widely dispersed populations, since three common haplotypes (4, 1, and 7) constituted over 95% of alleles. A control group of individuals from Southeast Asia shared the same major haplotypes, 4, 1, and 7, with Polynesians. These data provide further support for the theories of genetic homogeneity and of Asian affinities of the Polynesian precursor populations. The absence of severe phenylketonuria (PKU) in both Polynesians and Southeast Asians is consistent with the lack of PAH haplotypes 2 and 3, on which the severe PKU mutants have arisen among Caucasians.     

Racial disparities in clinical presentation,surgical procedures,and hospital outcomes among patients with hepatocellular carcinoma in the United States

BackgroundHepatocellular carcinoma (HCC) is one of the leading causes of cancer-related deaths in the United States (US), with substantial disparities observed in cancer incidence and survival among racial groups. This study provides analyses on race and ethnicity disparities for patients with HCC.MethodsThis is a cross-sectional analysis of data from the National Inpatient Sample (NIS) between 2011 and 2016, utilizing the STROBE guidelines. Multivariate logistic regression analyses were used to examine the risk-adjusted associations between race and pre-treatment clinical presentation, surgical procedure allocation, and post-treatment hospital outcomes. All clinical parameters were identified using ICD-9-CM and ICD-10-CM diagnosis and procedure codes.Results83,876 weighted HCC hospitalizations were reported during the study period. Patient demographics were divided according to NIS racial/ethnic categorization, which includes Caucasian (57.3%), African American (16.9%), Hispanic (15.7%), Asian or Pacific Islanders (9.3%), and Native American (0.8%). Association between greater odds of hospitalization and Elixhauser Comorbidity Index > 4 was significantly higher among Native Americans (aOR=1.79; 95% CI: 1.23–2.73), African Americans (aOR=1.24; 95% CI: 1.12–1.38), and Hispanics (aOR=1.11; 95% CI, 1.01–1.24). Risk-adjusted association between race and receipt of surgical procedures demonstrated that the odds of having surgery was significantly lower for African Americans (aOR=0.64; 95% CI: 0.55–0.73) and Hispanics (aOR=0.70; 95% CI: 0.59–0.82), while significantly higher for Asians/Pacific Islanders (aOR=1.36; 95% CI: 1.28–1.63). Post-operative complications were significantly lower for African Americans (aOR=0.68; 95% CI: 0.55–0.86) while the odds of in-hospital mortality were significantly higher for African Americans (aOR=1.28; 95% CI: 1.11–1.49) and Asians/Pacific Islanders (aOR=1.26; 95% CI: 1.13–1.62).ConclusionsAfter controlling for potential confounders, there were significant racial disparities in pre-treatment presentations, surgical procedure allocations, and post-treatment outcomes among patients with HCC. Further studies are needed to determine the underlying factors for these disparities to develop targeted interventions to reduce these disparities of care.     

Focus: Preventive Medicine: Undiagnosed Hypertension and Undiagnosed Type 2 Diabetes among Overweight and Obese Marshallese Participants in a Diabetes Prevention Program

Hypertension and type 2 diabetes (T2D) are major public health issues that disproportionately affect minority communities, including Native Hawaiians and Pacific Islanders (NHPI). Minority communities are also more likely to have undiagnosed hypertension and T2D. Marshallese Pacific Islanders have been shown to have high proportions of diagnosed and undiagnosed hypertension and T2D. Using survey and biometric data collected from 378 overweight/obese Marshallese Pacific Islander adults, this study documents the prevalence of hypertension and T2D, as well as the prevalence of undiagnosed hypertension and T2D. The study also examines associations between undiagnosed hypertension and undiagnosed T2D and age group, sex, health care access (defined by foregone care due to cost and health insurance status), and body mass index (BMI). Among participants with blood pressure readings indicative of hypertension, 68.4% were undiagnosed, and among participants with HbA1c indicative of T2D, 31.6% were undiagnosed. A quarter of participants (24.5%) had blood pressure and HbA1c measures indicative of both undiagnosed hypertension and undiagnosed T2D. Undiagnosed hypertension was significantly associated with age group (p’s<0.0001) and sex (p=0.028). Undiagnosed T2D was significantly associated with age group (p’s<0.05), forgone care due to cost (p=0.018), health insurance status (p=0.035), and BMI (p=0.001). Participants in this study had high proportions of undiagnosed hypertension and undiagnosed T2D. These findings will be immediately useful for those working to address hypertension and T2D disparities among Marshallese and other NHPI populations.     

Cephalometric analysis of the craniofacial region of the northern Foxe Basin Eskimo

Past investigations of the Eskimo have indicated that there are marked morphological differences in the craniofacial skeleton of this relatively isolated ethnic group compared to other ethnic and racial groups. This study, using cephalometric radiography, attempted to characterize the craniofacial phenotype of the Eskimo living in the northern Foxe Basin, Northwest Territories, Canada. Age changes were examined on a cross-sectional basis with comparisons being made with a Winnipeg Caucasian group. This investigation indicates that the Igloolik Eskimo has a phenotype, established early in life, and is distinct from the Winnipeg group. The overall size of the Eskimo craniofacial complex was significantly larger at three years of age and remained larger through the ages studied. Development of the craniofacial region, however, was fairly similar in rate and direction for both populations. The greatest differences between the Eskimo and Caucasian groups were found in the linear measurements assessing cranial width, facial width, mandibular length, facial height, protrusion of the incisors, chin point development, and nasal morphology. Differences between the two groups in the morphological relationships of the component structures include the angular relationships of the maxilla and nasal bones to the anterior cranial base, the gonial angle of the mandible, and the angle of facial convexity.     

NPM1突变基因调控K562白血病细胞侵袭表型的相关机制

目的探讨CXCR4、Angs在NPM1突变参与调控的白血病细胞浸润转移中的作用,以期进一步明确NPM1突变在白血病浸润转移中的调控机制。方法通过基因转染构建稳定表达NPM1突变蛋白的K562白血病细胞株（K562-mA）。qRT—PCR检测各组细胞CXCR4、Ang-1／2的mRNA表达水平;Western免疫印迹和流式细胞仪分别检测细胞CXCR4总蛋白和膜蛋白的表达。结果建立了稳定表达NPM突变基因的K562-mA细胞株。与未处理组和空载体转染组相比,K562-mA细胞CXCR4的mRNA和蛋白表达水平显著增高;Ang-1mRNA表达水平明显降低、Ang-2mRNA表达水平明显增高。结论CXCR4、Ang-1／2可能在MPM1突变调控白血病细胞的浸润转移中发挥重要作用。     

Strain preference in donor and recipient for production of W-bearing sperm in mixed-sex germline chimeric chickens

To elucidate the strain preference in donor and recipient for the production of W-bearing sperm, mixed-sex germline chimeric chickens were produced. The combination of donor and recipient was White Leghorn (WL) and Barred Plymouth Rock (BPR), and vice versa. Four sets of mixed-sex chimeras that had the male phenotype at sexual maturity were subjected to analysis: group 1, a female WL donor and a male BPR recipient; group 2, a male WL donor and a female BPR recipient; group 3, a female BPR donor and a male WL recipient; group 4, a male BPR donor and a female WL recipient. The mean number of W-bearing sperm detected by in situ hybridization among 10000 sperm observed was 135, 158, 26 and 71 in groups 1, 2, 3 and 4, respectively. The number in group 1 was significantly higher than that of group 3 (P<0.05). And the number in group 2 was significantly higher than those of groups 3 and 4 (P<0.05). It is suggested that the combination of a WL donor and a BPR recipient produced W-bearing sperm more efficiently than the reverse combination.