31 research outputs found

    Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

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    We identified rare coding variants associated with Alzheimer’s disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were genotyped using a whole-exome microarray. In stage 2, we tested associated variants (P<1×10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, an additional 14,997 samples were used to test the most significant stage 2 associations (P<5×10-8) using imputed genotypes. We observed 3 novel genome-wide significant (GWS) AD associated non-synonymous variants; a protective variant in PLCG2 (rs72824905/p.P522R, P=5.38×10-10, OR=0.68, MAFcases=0.0059, MAFcontrols=0.0093), a risk variant in ABI3 (rs616338/p.S209F, P=4.56×10-10, OR=1.43, MAFcases=0.011, MAFcontrols=0.008), and a novel GWS variant in TREM2 (rs143332484/p.R62H, P=1.55×10-14, OR=1.67, MAFcases=0.0143, MAFcontrols=0.0089), a known AD susceptibility gene. These protein-coding changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified AD risk genes. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to AD development

    Abortion terminology preferences: a cross-sectional survey of people accessing abortion care

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    Abstract Background Abortion stigma likely affects the terminology abortion patients, providers and the public use or avoid using to refer to abortion care. Knowing the terminology people seeking abortion prefer could help inform the language used in clinical interactions and improve patients’ experiences with abortion care. However, research in the U.S. has not examined patients’ preferences in this area or whether terminology preferences vary by participant characteristics, in the way that experiences of stigma vary across different contexts and communities. This study aims to describe preferred terminology among people presenting for abortion care and to explore the pregnancy-related characteristics associated with these preferences. Methods We surveyed abortion patients about their experiences accessing abortion care, including preferred terms for the procedure. Respondents could mark more than one term, suggest their own term, or indicate no preference. We recruited people ages 15–45 seeking abortion from four U.S. abortion facilities located in three states (California, Illinois, and New Mexico) from January to June 2019. We used descriptive statistics and multivariable multinomial logistic regression to explore associations between respondents’ pregnancy-related characteristics and their preferred terminology. Results Among the 1092 people approached, 784 (77%) initiated the survey and 697 responded to the terminology preference question. Most participants (57%, n = 400) preferred only one term. Among those participants, “abortion” (43%) was most preferred, followed by “ending a pregnancy” (29%), and “pregnancy termination” (24%). In adjusted multivariable models, participants who worried “very much” that other people might find out about the abortion (29%) were significantly more likely than those who were “not at all” worried (13%) to prefer “ending a pregnancy” over having no preference for a term (adjusted relative risk ratio: 2.68, 95% Confidence Interval: 1.46–4.92). Conclusions People seeking abortion have varied preferences for how they want to refer to their abortions, in particular if they anticipate abortion stigma. Findings can be useful for clinicians and researchers so that they can be responsive to people’s preferences during clinical interactions and in the design and conduct of abortion research
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