Application of the Optimized Summed Score Attributes Method for Sex Estimation

2021 ◽  
Author(s):  
Holly Long ◽  
Alexandra Klales
Keyword(s):  
Sexual Dimorphism ◽  
African Ancestry ◽  
European Ancestry ◽  
Sex Bias ◽  
Sex Estimation ◽  
Black African ◽  
Asian Populations ◽  
Novel Approach ◽  
Calibration Sample ◽  
Accuracy Rates

The optimized summed scored attributes (OSSA) method was first developed for cranial ancestry estimation (Hefner & Ousley 2014). Tallman and Go (2018) adapted this method for sex estimation with the five skull traits described by Buikstra and Ubelaker (1994) and Walker (2008). Using an Asian sample, Tallman and Go (2018) achieved moderate accuracy rates (83.7% calibration; 81.9% validation) but also high sex bias (29.1% calibration; 34.5% validation), possibly due to lower levels of sexual dimorphism in Asian populations. To further explore this novel approach to sex estimation, the OSSA method was applied to a U.S. Black/African ancestry and White/European ancestry calibration sample (N = 700). Accuracy rates were 77.4% in Black individuals and 77.2% in White individuals. Despite generally higher levels of sexual dimorphism in these groups, a high sex bias still occurred (15.4% Black individuals; –20.5% White individuals) using OSSA. The method was tested in a separate validation sample (N = 200) with accuracy of 78.0% in Black individuals (8.0% sex bias) and 70.0% in White individuals (–56.0% sex bias). When these same traits were tested with Walker’s (2008) logistic regression and in the MorphoPASSE Program (Klales 2018) using random forest modeling, accuracy rates varied ,with OSSA (77.3% correct), performing slightly better than Walker’s (2008) method (75.6% correct) but worse than MorphoPASSE (85.3% correct). The higher accuracy and lower sex bias in MorphoPASSE suggests that the Walker (2008) traits can be used to accurately estimate sex with statistical approaches more appropriate and robust than OSSA.

scholarly journals Ectopic fat deposition in populations of black African ancestry: A systematic review and meta-analysis

2021 ◽  
Author(s):  
Reuben M. Reed ◽  
Sarah J. Nevitt ◽  
Graham J. Kemp ◽  
Daniel J. Cuthbertson ◽  
Martin B. Whyte ◽  
...  
Keyword(s):  
Systematic Review ◽  
Meta Analysis ◽  
African Ancestry ◽  
European Ancestry ◽  
Ectopic Fat ◽  
Potential Contribution ◽  
Black African ◽  
Fat Depots ◽  
Ectopic Fat Deposition ◽  
Intrahepatic Lipid

Abstract Aims In populations of black African ancestry (BA), a paradox exists whereby lower visceral adipose tissue is found despite their high risk for type 2 diabetes (T2D). This systematic review investigates ethnic differences in other ectopic fat depots (intrahepatic lipid: IHL; intramyocellular lipid: IMCL and intrapancreatic lipid; IPL) to help contextualise their potential contribution to T2D risk. Methods A systematic literature search was performed in December 2020 to identify studies reporting at least one ectopic fat comparison between BA and one/more other ethnicity. For IHL, a meta-analysis was carried out with studies considered comparable based on the method of measurement. Results Twenty-eight studies were included (IHL: n = 20; IMCL: n = 8; IPL: n = 4). Meta-analysis of 11 studies investigating IHL revealed that it was lower in BA populations vs pooled ethnic comparators (MD −1.35%, 95% CI −1.55 to −1.16, I2 = 85%, P < 0.00001), white European ancestry (MD −0.94%, 95% CI −1.17 to -0.70, I2 = 79%, P < 0.00001), Hispanic ancestry (MD −2.06%, 95% CI −2.49 to −1.63, I2 = 81%, P < 0.00001) and South Asian ancestry comparators (MD −1.92%, 95% CI −3.26 to −0.57, I2 = 78%, P = 0.005). However, heterogeneity was high in all analyses. Most studies found no significant differences in IMCL between BA and WE. Few studies investigated IPL, however, indicated that IPL is lower in BA compared to WE and HIS. Conclusion The discordance between ectopic fat and greater risk for T2D in BA populations raises questions around its contribution to T2D pathophysiology in BA.

scholarly journals Implementing genomic screening in diverse populations

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Noura S. Abul-Husn ◽  
Emily R. Soper ◽  
Giovanna T. Braganza ◽  
Jessica E. Rodriguez ◽  
Natasha Zeid ◽  
...  
Keyword(s):  
Screening Program ◽  
African Ancestry ◽  
Genomic Medicine ◽  
European Ancestry ◽  
Transthyretin Amyloidosis ◽  
Medicine Research ◽  
Screening Programs ◽  
Genomic Screening ◽  
Genomic Results ◽  
To Receive

Abstract Background Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is particularly true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. Therefore, we implemented a pilot genomic screening program in the BioMe Biobank in New York City, where the majority of participants are of non-European ancestry. Methods We initiated genomic screening for well-established genes associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). We evaluated and included an additional gene (TTR) associated with hereditary transthyretin amyloidosis (hATTR), which has a common founder variant in African ancestry populations. We evaluated the characteristics of 74 participants who received results associated with these conditions. We also assessed the preferences of 7461 newly enrolled BioMe participants to receive genomic results. Results In the pilot genomic screening program, 74 consented participants received results related to HBOC (N = 26), LS (N = 6), FH (N = 8), and hATTR (N = 34). Thirty-three of 34 (97.1%) participants who received a result related to hATTR were self-reported African American/African (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among the 7461 participants enrolled after the BioMe protocol modification to allow the return of genomic results, 93.4% indicated that they would want to receive results. Younger participants, women, and HL participants were more likely to opt to receive results. Conclusions The addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations.

scholarly journals EMBRACE: Phase 3/4, Randomized, 52‐Week Study of Belimumab Efficacy and Safety in Patients of Black African Ancestry With Systemic Lupus Erythematosus

2021 ◽  
Author(s):  
Ellen Ginzler ◽  
Luiz Sergio Guedes Barbosa ◽  
David D’Cruz ◽  
Richard Furie ◽  
Kathleen Maksimowicz‐McKinnon ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
African Ancestry ◽  
Efficacy And Safety ◽  
Systemic Lupus ◽  
Phase 3 ◽  
Black African

scholarly journals Molecular Epidemiology of G6PD Genotypes in Different Ethnic Groups Residing in Saharan and Sahelian Zones of Mauritania

Pathogens ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 931
Author(s):  
Oum Kelthoum Mamadou Djigo ◽  
Mohamed Salem Ould Ahmedou Salem ◽  
Sileye Mamadou Diallo ◽  
Mohamed Abdallahi Bollahi ◽  
Boushab Mohamed Boushab ◽  
...  
Keyword(s):  
G6pd Deficiency ◽  
African Ancestry ◽  
Population Based ◽  
Black African ◽  
Plasmodium Vivax Malaria ◽  
The Mediterranean ◽  
Linguistic Groups ◽  
Study Sites ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Genotype Screening

Plasmodium vivax malaria is endemic in Mauritania. Individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop acute hemolytic anemia when exposed to 8-aminoquinoline antimalarial drugs, which are indispensable for a complete cure. The prevalence of G6PD allelic variants was assessed in different ethno-linguistic groups present in Mauritania. A total of 996 blood samples (447 males and 549 females; 499 white Moors and 497 individuals of black African ancestry) were collected from febrile patients in 6 different study sites: Aleg, Atar, Kiffa, Kobeni, Nouakchott, and Rosso. The presence of the African-type G6PD A- (G202A, A376G, A542T, G680T, and T968C mutations) and the Mediterranean-type G6PD B- (C563T) variants was assessed by PCR followed by restriction fragment length polymorphism and/or DNA sequencing. The prevalence of African-type G6PD A- genotype was 3.6% (36/996), with 6.3% (28/447) of hemizygote (A-) males and 1.5% (8/549) of homozygous (A-A-) females. Forty of 549 (7.3%) women were heterozygous (AA-). The following genotypes were observed among hemizygous men and/or homozygous women: A376G/G202A (22/996; 2.2%), A376G/T968C Betica-Selma (12/996; 1.2%), and A376G/A542T Santamaria (2/996; 0.2%). The Mediterranean-type G6PD B- genotype was not observed. The prevalence rates of G6PD A- genotype in male (10/243; 4.1%) and heterozygous female (6/256; 2.3%) white Moors were lower (p < 0.05) than those of males (18/204; 8.8%) and heterozygous females (34/293; 11.6%) of black African ancestry. There were only a few homozygous women among both white Moors (3/256; 1.2%) and those of black African ancestry (5/293; 1.7%). The prevalence of G6PD deficiency in Mauritania was comparable to that of neighboring countries in the Maghreb. Because of the purportedly close ethnic ties between the Mauritanian white Moors and the peoples in the Maghreb, further investigations on the possible existence of the Mediterranean-type allele are required. Moreover, a surveillance system of G6PD phenotype and/or genotype screening is warranted to establish and monitor a population-based prevalence of G6PD deficiency.

scholarly journals Contribution of Adipose Tissue Oxidative Stress to Obesity-Associated Diabetes Risk and Ethnic Differences: Focus on Women of African Ancestry

Antioxidants ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 622
Author(s):  
Pamela A. Nono Nankam ◽  
Télesphore B. Nguelefack ◽  
Julia H. Goedecke ◽  
Matthias Blüher
Keyword(s):  
Oxidative Stress ◽  
Adipose Tissue ◽  
Metabolic Diseases ◽  
African Ancestry ◽  
Fat Distribution ◽  
African Women ◽  
European Ancestry ◽  
Whole Body ◽  
Redox Equilibrium ◽  
Systemic Oxidative Stress

Adipose tissue (AT) storage capacity is central in the maintenance of whole-body homeostasis, especially in obesity states. However, sustained nutrients overflow may dysregulate this function resulting in adipocytes hypertrophy, AT hypoxia, inflammation and oxidative stress. Systemic inflammation may also contribute to the disruption of AT redox equilibrium. AT and systemic oxidative stress have been involved in the development of obesity-associated insulin resistance (IR) and type 2 diabetes (T2D) through several mechanisms. Interestingly, fat accumulation, body fat distribution and the degree of how adiposity translates into cardio-metabolic diseases differ between ethnicities. Populations of African ancestry have a higher prevalence of obesity and higher T2D risk than populations of European ancestry, mainly driven by higher rates among African women. Considering the reported ethnic-specific differences in AT distribution and function and higher levels of systemic oxidative stress markers, oxidative stress is a potential contributor to the higher susceptibility for metabolic diseases in African women. This review summarizes existing evidence supporting this hypothesis while acknowledging a lack of data on AT oxidative stress in relation to IR in Africans, and the potential influence of other ethnicity-related modulators (e.g., genetic-environment interplay, socioeconomic factors) for consideration in future studies with different ethnicities.

Trans-Ethnic Meta-Analysis of Interactions Between Genetics and Early-Life Socioeconomic Context on Memory Performance and Decline in Older Americans

2021 ◽  
Author(s):  
Jessica D Faul ◽  
Minjung Kho ◽  
Wei Zhao ◽  
Kalee E Rumfelt ◽  
Miao Yu ◽  
...  
Keyword(s):  
Parental Education ◽  
Association Studies ◽  
Memory Performance ◽  
Meta Analysis ◽  
African Ancestry ◽  
Later Life ◽  
European Ancestry ◽  
Genome Wide Association Studies ◽  
Multiple Testing Correction ◽  
Socioeconomic Context

Abstract Background Later-life cognitive function is influenced by genetics as well as early- and later-life socioeconomic context. However, few studies have examined the interaction between genetics and early childhood factors. Methods Using gene-based tests (interaction sequence kernel association test [iSKAT]/iSKAT optimal unified test), we examined whether common and/or rare exonic variants in 39 gene regions previously associated with cognitive performance, dementia, and related traits had an interaction with childhood socioeconomic context (parental education and financial strain) on memory performance or decline in European ancestry (EA, N = 10 468) and African ancestry (AA, N = 2 252) participants from the Health and Retirement Study. Results Of the 39 genes, 22 in EA and 19 in AA had nominally significant interactions with at least one childhood socioeconomic measure on memory performance and/or decline; however, all but one (father’s education by solute carrier family 24 member 4 [SLC24A4] in AA) were not significant after multiple testing correction (false discovery rate [FDR] &lt; .05). In trans-ethnic meta-analysis, 2 genes interacted with childhood socioeconomic context (FDR &lt; .05): mother’s education by membrane-spanning 4-domains A4A (MS4A4A) on memory performance, and father’s education by SLC24A4 on memory decline. Both interactions remained significant (p &lt; .05) after adjusting for respondent’s own educational attainment, apolipoprotein-ε4 allele (APOE ε4) status, lifestyle factors, body mass index, and comorbidities. For both interactions in EA and AA, the genetic effect was stronger in participants with low parental education. Conclusions Examination of common and rare variants in genes discovered through genome-wide association studies shows that childhood context may interact with key gene regions to jointly impact later-life memory function and decline. Genetic effects may be more salient for those with lower childhood socioeconomic status.

scholarly journals The Effect of Biracial Status and Color on Crystallized Intelligence in the U.S.-Born African–European American Population

Psych ◽  
2019 ◽  
Vol 1 (1) ◽  
pp. 44-54
Author(s):  
John Fuerst ◽  
Richard Lynn ◽  
Emil Kirkegaard
Keyword(s):  
African Americans ◽  
Cognitive Ability ◽  
African Ancestry ◽  
Significant Negative Correlation ◽  
European Ancestry ◽  
European American ◽  
Crystallized Intelligence ◽  
Black And White ◽  
Nationally Representative ◽  
Sub Saharan

The relationship between biracial status, color, and crystallized intelligence was examined in a nationally representative sample of adult Black and White Americans. First, it was found that self-identifying biracial individuals, who were found to be intermediate in color and in self-reported ancestry, had intermediate levels of crystallized intelligence relative to self-identifying White (mostly European ancestry) and Black (mostly sub-Saharan African ancestry) Americans. The results were transformed to an IQ scale: White (M = 100.00, N = 7569), primarily White–biracial (M = 96.07, N = 43, primarily Black–biracial (M = 94.14 N = 50), and Black (M = 89.81, N = 1381). Next, among self-identifying African Americans, a statistically significant negative correlation of r = −0.102 (N = 637) was found between interviewer-rated darker facial color and vocabulary scores. After correction for the reliability of the measures, this correlation increased to r = −0.21. Corrections for the validity of color as an index of African ancestry would raise this correlation to around r = −0.48. This association among self-identifying African Americans was not accounted for by confounding factors, such as region of residence and interviewer race, or by parental socioeconomic status and individual educational attainment. In the multivariate models, the standardized betas for color and crystallized intelligence among African Americans ranged from β = −0.112 to β = −0.142. Based on the coefficients from the multivariate analysis, it was further found that cognitive ability was a significant mediator in the context of color and education, while education was not in the context of color and cognitive ability. It is concluded that these results further substantiate the statistical relation between intelligence and biogeographic ancestry in African and European American populations.

scholarly journals Neutralizing and Non-Neutralizing Anti-FVIII Antibodies in Black and White Hemophilia A Subjects: A Natural History Profile

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 1131-1131 ◽  
Author(s):  
Kathleen P. Pratt ◽  
Devi Gunasekera ◽  
Pooja Vir ◽  
Robert Peters ◽  
Siyuan Tan ◽  
...  
Keyword(s):  
B Cell ◽  
Hemophilia A ◽  
African Ancestry ◽  
Full Length ◽  
Inhibitory Antibody ◽  
B Cell Epitopes ◽  
Black African ◽  
Coagulation Inhibitors ◽  
Antibody Titers ◽  
Linear B

The most common complication in hemophilia A (HA) treatment, affecting 25-30% of severe HA patients, is the development of alloimmune inhibitors that foreclose the ability of infused factor VIII (FVIII) to participate in coagulation. Inhibitors confer significant pathology on affected individuals and present major complexities in their management. Inhibitors are more common in African American patients, and it has been hypothesized that this is a consequence of haplotype (H)-treatment product mismatch. F8 gene haplotypes H1-H5 are defined by combinations of nonsynonymous SNPs encoding FVIII sequence variants D1241E, M2238V and R484H. F8 haplotypes H2-H5 are more prevalent in individuals with black African ancestry, while >90% of the white population has the H1 haplotype. This study used a validated Luminex-based assay to determine total anti-FVIII antibody titers in plasma from 395 HA (189 black, 206 white) and 23 non-HA control subjects, measuring their binding to recombinant full-length H1 and H2 and B-domain-deleted (BDD) H1/H2, H3 and H4 FVIII proteins. Inhibitor titers were determined using a chromogenic Bethesda assay with the Nijmegen modification. Linear B-cell epitopes recognized by antibodies in human plasma samples were characterized using commercial peptide microarrays with imprinted 15-mer peptides spanning the FVIII A1, A2, C1 and C2 domains, with binding interactions detected using fluorescent-labeled anti-human IgG antibodies. Neither total nor inhibitory antibody titers correlated with F8 haplotype. FVIII peptides with the D1241E and M3348V polymorphisms showed low antibody reactivity, indicating they do not comprise linear B-cell epitopes. Similarly, antibodies from subjects with H3 and H5 haplotypes, who were necessarily infused with FVIII products having a different haplotype than that of their endogenous, (dysfunctional) F8 sequence, did not show haplotype-correlated differential binding to the three BDD-FVIII or full-length FVIII proteins, indicating the polymorphic M2238V or D1241E sites do not correspond to immunodominant, conformational B-cell epitopes. Interestingly, the BDD-FVIII proteins were significantly more reactive with antibodies in plasma than were two commercial full-length recombinant FVIII products. Overall, results of this study indicated that low-titer FVIII-reactive antibodies are readily detected in most HA subjects and in a majority of healthy non-HA controls. The observed stronger immunoreactivity of BDD-FVIII suggests that B-domain removal exposes novel B-cell epitopes, perhaps through conformational rearrangements of FVIII domains. Disclosures Pratt: Bloodworks NW: Patents & Royalties: inventor on patents related to FVIII immunogenicity; Grifols, Inc: Research Funding. Peters:Sanofi: Employment. Mann:Haematologic Technologies: Other: Owner; Stago: Consultancy; Novo Nordisk: Consultancy; Takeda: Consultancy; Shire: Consultancy; Baxalta: Consultancy.

scholarly journals GWAS of Depression Phenotypes in the Million Veteran Program and Meta-analysis in More than 1.2 Million Participants Yields 178 Independent Risk Loci

2020 ◽  
Author(s):  
Daniel F Levey ◽  
Murray B Stein ◽  
Frank R Wendt ◽  
Gita A Pathak ◽  
Hang Zhou ◽  
...  
Keyword(s):  
Gene Expression ◽  
Meta Analysis ◽  
African Ancestry ◽  
Genetic Correlations ◽  
Brain Regions ◽  
Self Report ◽  
European Ancestry ◽  
Causal Variants ◽  
Using Data ◽  
Genomic Risk

We report a large meta-analysis of depression using data from the Million Veteran Program (MVP), 23andMe Inc., UK Biobank, and FinnGen; including individuals of European ancestry (n=1,154,267; 340,591 cases) and African ancestry (n=59,600; 25,843 cases). We identified 223 and 233 independent SNPs associated with depression in European ancestry and transancestral analysis, respectively. Genetic correlations within the MVP cohort across electronic health records diagnosis, survey self-report of diagnosis, and a 2-item depression screen exceeded 0.81. Using transcriptome-wide association study (TWAS) we found significant associations for gene expression in several brain regions, including hypothalamus (NEGR1, p=3.19x10-25) and nucleus accumbens (DRD2, p=1.87x10-20). 178 genomic risk loci were fine-mapped to find likely causal variants. We identified likely pathogenicity in these variants and overlapping gene expression for 17 genes from our TWAS, including TRAF3. This study sheds light on the genetic architecture of depression and provides new insight into the interrelatedness of complex psychiatric traits.

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