scholarly journals Novel polymorphisms in TICAM2 and NOD1 associated with tuberculosis progression phenotypes in Ethiopian populations

Author(s):  
E. Mekonnen ◽  
E. Bekele ◽  
C. M. Stein

BackgroundInfection by Mycobacterium tuberculosis (Mtb) is a necessary but not sufficient cause for tuberculosis (TB). Although numerous studies suggest human genetic variation may influence TB pathogenesis, there is a conspicuous lack of replication, likely due to imprecise phenotype definition. We aimed to replicate novel findings from a Ugandan cohort in Ethiopian populations.MethodWe ascertained TB cases and household controls (n = 292) from three different ethnic groups. Latent Mtb infection was determined using Quantiferon to develop reliable TB progression phenotypes. We sequenced exonic regions of TICAM2 and NOD1.ResultSignificant novel associations were observed between two variants in NOD1 and TB: rs751770147 [unadjusted p = 7.28 × 10−5] and chr7:30477156(T), a novel variant, [unadjusted p = 1.04 × 10−4]. Two SNPs in TICAM2 were nominally associated with TB, including rs2288384 [unadjusted p = 0.003]. Haplotype-based association tests supported the SNP-based results.ConclusionWe replicated the association of TICAM2 and NOD1 with TB and identified novel genetic associations with TB in Ethiopian populations.

2008 ◽  
Vol 36 (3) ◽  
pp. 471-477 ◽  
Author(s):  
Jennifer A. Hamilton

In 2000, researchers from the Human Genome Project (HGP) proclaimed that the initial sequencing of the human genome definitively proved, among other things, that there was no genetic basis for race. The genetic fact that most humans were 99.9% the same at the level of their DNA was widely heralded and circulated in the English-speaking press, especially in the United States. This pronouncement seemed proof that long-term antiracist efforts to de-biologize race were legitimized by scientific findings. Yet, despite the seemingly widespread acceptance of the social construction of race, post-HGP genetic science has seen a substantial shift toward the use of race variables in genetic research and, according to a number of prominent scholars, is re-invoking the specter of earlier forms of racial science in some rather discomfiting ways. During the past seven years, the main thrust of human genetic research, especially in the realm of biomedicine, has shifted from a concern with the 99.9% of the shared genome — what is thought to make humans alike — towards an explicit focus on the 0.1% that constitutes human genetic variation. Here I briefly explore some of the potential implications of the conceptualization and practice of early 21st century genetic variation research, especially as it relates to questions of race.


PEDIATRICS ◽  
1977 ◽  
Vol 59 (3) ◽  
pp. 432-432
Author(s):  
R. C. Lewontin ◽  

Only about 7% of all human genetic diversity is between major races. It would appear then that the superficial characters of skin color, hair form, lip, nose, and eye shape that we use to distinguish human races are atypical and do not represent the mode of human genetic variation. The taxonomic division of the human species into races places a completely disproportionate emphasis on a very small fraction of total human genetic diversity.


2021 ◽  
Vol 99 (Supplement_3) ◽  
pp. 233-234
Author(s):  
David N Kelly ◽  
Roy D Sleator ◽  
Craig P Murphy ◽  
Stephen B Conroy ◽  
Donagh P Berry

Abstract To the best of our knowledge, the genetic variability in feeding behavior, as well as relationships with performance and feed efficiency, has not been investigated in a cattle population of greater than 1,500 animals. Our objective was to quantify the genetic parameters of several feeding behavior traits, and their genetic associations with both performance and feed efficiency traits, in crossbred growing cattle. Feed intake and live-weight data were available on 6,088 bulls, steers and heifers; of these, 4,672 cattle had backfat and muscle ultrasound data, and 1,548 steers and heifers had feeding behavior data. Genetic (co)variance parameters were estimated using animal linear mixed models; fixed effects included test group, heterosis, recombination loss, dam parity, age in months at the end of test, and the two-way interaction between age in months at the end of test and sex. Heritability was estimated to be 0.51 (0.097), 0.61 (0.100), 0.44 (0.093), 0.48 (0.094), and 0.47 (0.095) for feed events per day, feeding time per day, feeding rate, feed event duration, and energy intake per feed event, respectively. Coefficients of genetic variation ranged from 0.11 (feeding time per day) to 0.22 (feed event duration). Genetically heavier cattle with a higher energy intake per day, and faster growth rate, had a faster feeding rate and a greater energy intake per feed event. Genetic correlations between feeding behavior and feed efficiency were generally not different from zero, however, there was a genetic correlation of 0.36 (0.11) between feeding time per day and residual energy intake. Significant heritable and exploitable genetic variation exists in several feeding behavior traits in crossbred growing cattle which are also correlated with several performance traits. As some feeding behavior traits may be relatively less resource intensive to measure, they could be useful as predictor traits in beef cattle genetic evaluations.


2018 ◽  
pp. 361-396 ◽  
Author(s):  
Tom Strachan ◽  
Andrew P Read

2020 ◽  
Author(s):  
Arjun Biddanda ◽  
Daniel P. Rice ◽  
John Novembre

AbstractA key challenge in human genetics is to describe and understand the distribution of human genetic variation. Often genetic variation is described by showing relationships among populations or individuals, in each case drawing inferences over a large number of variants. Here, we present an alternative representation of human genetic variation that reveals the relative abundance of different allele frequency patterns across populations. This approach allows viewers to easily see several features of human genetic structure: (1) most variants are rare and geographically localized, (2) variants that are common in a single geographic region are more likely to be shared across the globe than to be private to that region, and (3) where two individuals differ, it is most often due to variants that are common globally, regardless of whether the individuals are from the same region or different regions. To guide interpretation of the results, we also apply the visualization to contrasting theoretical scenarios with varying levels of divergence and gene flow. Our variant-centric visualization clarifies the major geographic patterns of human variation and can be used to help correct potential misconceptions about the extent and nature of genetic differentiation among populations.


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