| 1. |
- Palmer, Nicholette D, et al.
(author)
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A genome-wide association search for type 2 diabetes genes in African Americans.
- 2012
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In: PloS one. - San Francisco : Public Library of Science (PLoS). - 1932-6203. ; 7:1, s. e29202-
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Journal article (peer-reviewed)abstract
- African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
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| 2. |
- Kilpeläinen, Tuomas O, et al.
(author)
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Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels
- 2016
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Journal article (peer-reviewed)abstract
- Leptin is an adipocyte-secreted hormone, the circulating levels of which correlate closely with overall adiposity. Although rare mutations in the leptin (LEP) gene are well known to cause leptin deficiency and severe obesity, no common loci regulating circulating leptin levels have been uncovered. Therefore, we performed a genome-wide association study (GWAS) of circulating leptin levels from 32,161 individuals and followed up loci reaching P<10(-6) in 19,979 additional individuals. We identify five loci robustly associated (P<5 × 10(-8)) with leptin levels in/near LEP, SLC32A1, GCKR, CCNL1 and FTO. Although the association of the FTO obesity locus with leptin levels is abolished by adjustment for BMI, associations of the four other loci are independent of adiposity. The GCKR locus was found associated with multiple metabolic traits in previous GWAS and the CCNL1 locus with birth weight. Knockdown experiments in mouse adipose tissue explants show convincing evidence for adipogenin, a regulator of adipocyte differentiation, as the novel causal gene in the SLC32A1 locus influencing leptin levels. Our findings provide novel insights into the regulation of leptin production by adipose tissue and open new avenues for examining the influence of variation in leptin levels on adiposity and metabolic health.
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| 3. |
- Menkveld, Albert J., et al.
(author)
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Nonstandard Errors
- 2024
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In: JOURNAL OF FINANCE. - : Wiley-Blackwell. - 0022-1082 .- 1540-6261. ; 79:3, s. 2339-2390
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Journal article (peer-reviewed)abstract
- In statistics, samples are drawn from a population in a data-generating process (DGP). Standard errors measure the uncertainty in estimates of population parameters. In science, evidence is generated to test hypotheses in an evidence-generating process (EGP). We claim that EGP variation across researchers adds uncertainty-nonstandard errors (NSEs). We study NSEs by letting 164 teams test the same hypotheses on the same data. NSEs turn out to be sizable, but smaller for more reproducible or higher rated research. Adding peer-review stages reduces NSEs. We further find that this type of uncertainty is underestimated by participants.
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| 4. |
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| 5. |
- van den Berg, Niels, et al.
(author)
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Families in comparison : An individual-level comparison of life-course and family reconstructions between population and vital event registers
- 2021
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In: Population Studies. - : Informa UK Limited. - 0032-4728 .- 1477-4747. ; 75:1, s. 91-110
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Journal article (peer-reviewed)abstract
- It remains unknown how different types of sources affect the reconstruction of life courses and families in large-scale databases increasingly common in demographic research. Here, we compare family and life-course reconstructions for 495 individuals simultaneously present in two well-known Dutch data sets: LINKS, based on the Zeeland province’s full-population vital event registration data (passive registration), and the Historical Sample of the Netherlands (HSN), based on a national sample of birth certificates, with follow-up of individuals in population registers (active registration). We compare indicators of fertility, marriage, mortality, and occupational status, and conclude that reconstructions in the HSN and LINKS reflect each other well: LINKS provides more complete information on siblings and parents, whereas the HSN provides more complete life-course information. We conclude that life-course and family reconstructions based on linked passive registration of individuals constitute a reliable alternative to reconstructions based on active registration, if case selection is carefully considered.
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| 6. |
- Quanjer, Björn, et al.
(author)
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Short Lives : The Impact of Parental Death on Early-Life Mortality and Height in the Netherlands, 1850-1940
- 2023
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In: Demography. - : Duke University Press. - 1533-7790 .- 0070-3370. ; 60:1, s. 255-279
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Journal article (peer-reviewed)abstract
- We investigate how experiencing parental death in infancy, childhood, or adolescence affected individuals' health using two distinct measures: mortality before age 20 and young adult height. Using two complementary indicators of health enables us to gain more insights into processes of selection and the scarring of health. Employing nationally representative data for the Netherlands for the 1850-1940 period, we analyze the survival of roughly 36,000 boys and girls using Cox proportional hazard models, and the stature of more than 4,000 young adult men using linear regression models. Results show that losing a parent-particularly a mother-at an early age (0-1 or 1-5) was related to a strongly increased risk of mortality. We find no evidence that losing a parent at these ages affected stature in young adulthood. For boys, experiencing maternal death between ages five and 12 was strongly associated with a shorter young adult height; however, we did not find evidence for an association between experiencing paternal death and shorter stature. We conclude that stature may not be a particularly good measure of the effects of early-life adversity if the health shock greatly increases mortality, as these effects create potential issues of health selection.
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| 7. |
- Willfuhr, Kai P., et al.
(author)
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Another helping - A plea for studying kin effects from an interdisciplinary perspective
- 2019
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In: Historicka Demografie. - 0323-0937. ; 43:2, s. 157-181
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Journal article (peer-reviewed)abstract
- Having kin and living together with kin influence the individual life course, including a person’s marriage, reproductive career, and survival. A wide range of mechanisms are involved in connecting these life course transitions to support and competition between kin, as well as to characteristics of the family environment. How kin affect the life course is perceived differently in evolutionary anthropology than in the social sciences, and these perspectives are seldom integrated into research. In the present article, we review predictions of the influence of in-law relatives on fertility and mortality presented in selected studies. We will then discuss their explanatory power by discussing the influence of the mother-in-law on the mortality of reproductive females in the historical populations of the Krummhörn region in Germany (1720-1874) and the St. Lawrence Valley in Quebec, Canada (1670-1799). Social science studies tend to emphasize the role of kin in economic and social resource availability, and especially the family characteristics that are relevant in providing, accessing, and dividing resources. In contrast, evolutionary anthropology tends to emphasize the evolved inclinations of kin to support as well as to compete with each other. On the one hand, we argue that the social sciences would benefit from integrating the evolutionary theory of human behavior. On the other hand, evolutionary anthropology would benefit from the comprehensive acknowledgment of the socio-environmental factors in population since these may mask evolved inclinations.
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