scholarly journals Genetic evidence for natural selection in humans in the contemporary United States

2016 ◽  
Vol 113 (28) ◽  
pp. 7774-7779 ◽  
Author(s):  
Jonathan P. Beauchamp
Keyword(s):  
Natural Selection ◽  
European Ancestry ◽  
Age At Menarche ◽  
Representative Study ◽  
Polygenic Scores ◽  
The Us ◽  
Rapid Changes ◽  
Contemporary United States ◽  
Retirement Study ◽  
Selection Of

Recent findings from molecular genetics now make it possible to test directly for natural selection by analyzing whether genetic variants associated with various phenotypes have been under selection. I leverage these findings to construct polygenic scores that use individuals’ genotypes to predict their body mass index, educational attainment (EA), glucose concentration, height, schizophrenia, total cholesterol, and (in females) age at menarche. I then examine associations between these scores and fitness to test whether natural selection has been occurring. My study sample includes individuals of European ancestry born between 1931 and 1953 who participated in the Health and Retirement Study, a representative study of the US population. My results imply that natural selection has been slowly favoring lower EA in both females and males, and are suggestive that natural selection may have favored a higher age at menarche in females. For EA, my estimates imply a rate of selection of about −1.5 mo of education per generation (which pales in comparison with the increases in EA observed in contemporary times). Although they cannot be projected over more than one generation, my results provide additional evidence that humans are still evolving—albeit slowly, especially compared with the rapid changes that have occurred over the past few generations due to cultural and environmental factors.

scholarly journals Genetic evidence for natural selection in humans in the contemporary United States

2016 ◽  
Author(s):  
Jonathan Beauchamp
Keyword(s):  
Natural Selection ◽  
European Ancestry ◽  
Age At Menarche ◽  
The Past ◽  
Representative Study ◽  
Polygenic Scores ◽  
The Us ◽  
Contemporary United States ◽  
Retirement Study ◽  
Selection Of

AbstractRecent findings from molecular genetics now make it possible to test directly for natural selection by analyzing whether genetic variants associated with various phenotypes have been under selection. I leverage these findings to construct polygenic scores that use individuals’ genotypes to predict their body mass index, educational attainment (EA), glucose concentration, height, schizophrenia, total cholesterol, and (in females) age at menarche. I then examine associations between these scores and fitness to test whether natural selection has been occurring. My study sample includes individuals of European ancestry born between 1931 and 1953 in the Health and Retirement Study, a representative study of the US population. My results imply that natural selection has been slowly favoring lower EA in both females and males, and are suggestive that natural selection may have favored a higher age at menarche in females. For EA, my estimates imply a rate of selection of about -1.5 months of education per generation (which pales in comparison with the increases in EA observed in contemporary times). Though they cannot be projected over more than one generation, my results provide additional evidence that humans are still evolving—albeit slowly, especially when compared to the rapid secular changes that have occurred over the past few generations due to cultural and environmental factors.

scholarly journals Considering the APOE locus in Alzheimer’s disease polygenic scores in the Health and Retirement Study: a longitudinal panel study

2020 ◽  
Vol 13 (1) ◽  
Author(s):  
Erin B. Ware ◽  
Jessica D. Faul ◽  
Colter M. Mitchell ◽  
Kelly M. Bakulski
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Repeated Measures ◽  
Panel Study ◽  
European Ancestry ◽  
Health And Retirement Study ◽  
Carrier Status ◽  
Polygenic Score ◽  
Polygenic Scores ◽  
Retirement Study

Abstract Background Polygenic scores are a strategy to aggregate the small, additive effects of single nucleotide polymorphisms across the genome. With phenotypes like Alzheimer’s disease, which have a strong and well-established genomic locus (APOE), the cumulative effect of genetic variants outside of this area has not been well established in a population-representative sample. Methods Here we examine the association between polygenic scores for Alzheimer’s disease both with and without the APOE region (chr19: 45,384,477 to 45,432,606, build 37/hg 19) at different P value thresholds and dementia. We also investigate the addition of APOE-ε4 carrier status and its effect on the polygenic score—dementia association in the Health and Retirement Study using generalized linear models accounting for repeated measures by individual and use a binomial distribution, logit link, and unstructured correlation structure. Results In a large sample of European ancestry participants of the Health and Retirement Study (n = 9872) with an average of 5.2 (standard deviation 1.8) visit spaced two years apart, we found that including the APOE region through weighted variants in a polygenic score was insufficient to capture the large amount of risk attributed to this region. We also found that a polygenic score with a P value threshold of 0.01 had the strongest association with the odds of dementia in this sample (odds ratio = 1.10 95%CI 1.0 to 1.2). Conclusion We recommend removing the APOE region from polygenic score calculation and treating the APOE locus as an independent covariate when modeling dementia. We also recommend using a moderately conservative P value threshold (e.g. 0.01) when creating polygenic scores for Alzheimer’s disease on dementia. These recommendations may help elucidate relationships between polygenic scores and regions of strong significance for phenotypes similar to Alzheimer’s disease.

The Natural Selection of Minds

1998 ◽  
Vol 43 (4) ◽  
pp. 263-264
Author(s):  
Joseph F. Rychlak
Keyword(s):  
Natural Selection ◽  
Selection Of

Transgender language reform

2017 ◽  
Vol 1 (1) ◽  
pp. 84-105 ◽  
Author(s):  
Lal Zimman
Keyword(s):  
Gender Identity ◽  
Identity Construction ◽  
Language Reform ◽  
Inclusive Language ◽  
Trans People ◽  
Third Person ◽  
Linguistic Challenges ◽  
Contemporary United States ◽  
Individual Self ◽  
Selection Of

Transgender people’s recent increase in visibility in the contemporary United States has presented new linguistic challenges. This article investigates those challenges and presents strategies developed by trans speakers and promoted by trans activists concerned with language reform. The first of these is the selection of gendered lexical items, including both gender identity terms (woman, man, etc.) and more implicitly gendered words (e.g. beautiful, handsome). The second is the assignment of third person pronouns like she/her/hers and he/ him/his as well as non-binary pronouns like singular they/them/theirs or ze/ hir/hirs. Both of these challenges tap into the importance trans people place on individual self-identification, and they come with new interactional practices such as asking people directly what pronouns they would like others to use when referring to them. The third challenge addressed here is avoiding gendering people when the referent’s gender isn’t relevant or known, which can be addressed through the selection of gender-neutral or gender-inclusive language. The final challenge is how to discuss gender when it is relevant – e.g. in discussions of gender identity, socialisation or sexual physiology – without delegitimising trans identities. Several strategies are presented to address this issue, such as hedging all generalisations based on gender, even when doing so seems unnecessary in the normative sex/gender framework or using more precise language regarding what aspect(s) of gender are relevant. Taken as a whole, trans language reform reflects the importance of language, not just as an auxiliary to identity, but as the primary grounds on which identity construction takes place.

Contrasting Broad- and Clinically- defined Polygenic Indicators of Depression and Depression-related Phenotypes in Adults and Children

2020 ◽  
Author(s):  
John E. McGeary ◽  
Chelsie Benca-Bachman ◽  
Victoria Risner ◽  
Christopher G Beevers ◽  
Brandon Gibb ◽  
...  
Keyword(s):  
Suicidal Ideation ◽  
Cognitive Reappraisal ◽  
Twin Studies ◽  
European Ancestry ◽  
Summary Statistics ◽  
Depression Severity ◽  
Uk Biobank ◽  
Polygenic Scores ◽  
Adults And Children ◽  
The Uk

Twin studies indicate that 30-40% of the disease liability for depression can be attributed to genetic differences. Here, we assess the explanatory ability of polygenic scores (PGS) based on broad- (PGSBD) and clinical- (PGSMDD) depression summary statistics from the UK Biobank using independent cohorts of adults (N=210; 100% European Ancestry) and children (N=728; 70% European Ancestry) who have been extensively phenotyped for depression and related neurocognitive phenotypes. PGS associations with depression severity and diagnosis were generally modest, and larger in adults than children. Polygenic prediction of depression-related phenotypes was mixed and varied by PGS. Higher PGSBD, in adults, was associated with a higher likelihood of having suicidal ideation, increased brooding and anhedonia, and lower levels of cognitive reappraisal; PGSMDD was positively associated with brooding and negatively related to cognitive reappraisal. Overall, PGS based on both broad and clinical depression phenotypes have modest utility in adult and child samples of depression.

scholarly journals Hospital-Based Donor Recruitment and Predonation Serologic Testing for COVID-19 Convalescent Plasma

2021 ◽  
Author(s):  
Joanna Balcerek ◽  
Evelin Trejo ◽  
Kendall Levine ◽  
Paul Couey ◽  
Zoe V Kornberg ◽  
...  
Keyword(s):  
Blood Donation ◽  
High Titer ◽  
Igg Antibodies ◽  
Serologic Testing ◽  
Wide Range ◽  
The Us ◽  
Polymerase Chain ◽  
Igg Level ◽  
Donor Recruitment ◽  
Selection Of

Abstract Objectives Serologic testing for antibodies to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in potential donors of coronavirus disease 2019 (COVID-19) convalescent plasma (CCP) may not be performed until after blood donation. A hospital-based recruitment program for CCP may be an efficient way to identify potential donors prospectively Methods Patients who recovered from known or suspected COVID-19 were identified and recruited through medical record searches and public appeals in March and April 2020. Participants were screened with a modified donor history questionnaire and, if eligible, were asked for consent and tested for SARS-CoV-2 antibodies (IgG and IgM). Participants positive for SARS-CoV-2 IgG were referred for CCP collection. Results Of 179 patients screened, 128 completed serologic testing and 89 were referred for CCP donation. IgG antibodies to SARS-CoV-2 were detected in 23 of 51 participants with suspected COVID-19 and 66 of 77 participants with self-reported COVID-19 confirmed by polymerase chain reaction (PCR). The anti–SARS-CoV-2 IgG level met the US Food and Drug Administration criteria for “high-titer” CCP in 39% of participants confirmed by PCR, as measured by the Ortho VITROS IgG assay. A wide range of SARS-CoV-2 IgG levels were observed. Conclusions A hospital-based CCP donor recruitment program can prospectively identify potential CCP donors. Variability in SARS-CoV-2 IgG levels has implications for the selection of CCP units for transfusion.

scholarly journals Genetic diversity and natural selection on the thrombospondin-related adhesive protein (TRAP) gene of Plasmodium falciparum on Bioko Island, Equatorial Guinea and global comparative analysis

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Li-Yun Lin ◽  
Hui-Ying Huang ◽  
Xue-Yan Liang ◽  
Dong-De Xie ◽  
Jiang-Tao Chen ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Plasmodium Falciparum ◽  
Natural Selection ◽  
Protein Structure ◽  
Transmembrane Protein ◽  
Fixation Index ◽  
Bioko Island ◽  
Adhesive Protein ◽  
Trap Gene ◽  
Selection Of

Abstract Background Thrombospondin-related adhesive protein (TRAP) is a transmembrane protein that plays a crucial role during the invasion of Plasmodium falciparum into liver cells. As a potential malaria vaccine candidate, the genetic diversity and natural selection of PfTRAP was assessed and the global PfTRAP polymorphism pattern was described. Methods 153 blood spot samples from Bioko malaria patients were collected during 2016–2018 and the target TRAP gene was amplified. Together with the sequences from database, nucleotide diversity and natural selection analysis, and the structural prediction were preformed using bioinformatical tools. Results A total of 119 Bioko PfTRAP sequences were amplified successfully. On Bioko Island, PfTRAP shows its high degree of genetic diversity and heterogeneity, with π value for 0.01046 and Hd for 0.99. The value of dN–dS (6.2231, p < 0.05) hinted at natural selection of PfTRAP on Bioko Island. Globally, the African PfTRAPs showed more diverse than the Asian ones, and significant genetic differentiation was discovered by the fixation index between African and Asian countries (Fst > 0.15, p < 0.05). 667 Asian isolates clustered in 136 haplotypes and 739 African isolates clustered in 528 haplotypes by network analysis. The mutations I116T, L221I, Y128F, G228V and P299S were predicted as probably damaging by PolyPhen online service, while mutations L49V, R285G, R285S, P299S and K421N would lead to a significant increase of free energy difference (ΔΔG > 1) indicated a destabilization of protein structure. Conclusions Evidences in the present investigation supported that PfTRAP gene from Bioko Island and other malaria endemic countries is highly polymorphic (especially at T cell epitopes), which provided the genetic information background for developing an PfTRAP-based universal effective vaccine. Moreover, some mutations have been shown to be detrimental to the protein structure or function and deserve further study and continuous monitoring.

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