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Biology subjects

Anand, S. S.

Publications and source records attributed to Anand, S. S..

4 recordsLinked to original sources

Comprehensive Assessment of Initial Adaptation of ESBL Positive ST131 Escherichia coli to Carbapenem Exposure

BackgroundIt remains unclear how high-risk Escherichia coli lineages, like sequence type (ST) 131, initially adapt to carbapenem exposure in their progression to becoming carbapenem resistant. MethodsCarbapenem mutation frequency was measured in multiple subclades of extended-spectrum {beta}-lactamase (ESBL) positive ST131 clinical isolates using a fluctuation assay followed by whole genome sequencing (WGS) characterization. Genomic, transcriptomic, and porin analyses of ST131 C2/H30Rx isolate, MB1860, under prolonged, increasing carbapenem exposure was performed using two distinct experimental evolutionary platforms to measure fast vs. slow adaptation. ResultsAll thirteen ESBL positive ST131 strains selected from a diverse (n=184) ST131 bacteremia cohort had detectable ertapenem (ETP) mutational frequencies with a statistically positive correlation between initial ESBL gene copy number and mutation frequency (r = 0.87, P-value <1e-5). WGS analysis of mutants showed initial response to ETP exposure resulted in significant increases in ESBL gene copy numbers or mutations in outer membrane porin (Omp) encoding genes in the absence of ESBL gene amplification with subclade specific associations. In both experimental evolutionary platforms, MB1860 responded to initial ETP exposure by increasing blaCTX-M-15 copy numbers via modular, insertion sequence 26 (IS26) mediated pseudocompound transposons (PCTns). Transposase activity driven by PCTn upregulation was a conserved expression signal in both experimental evolutionary platforms. Stable mutations in Omp encoding genes were detected only after prolonged increasing carbapenem exposure consistent with clinical observations. ConclusionsESBL gene amplification is a conserved response to initial carbapenem exposure, especially within the high-risk ST131 C2/H30Rx subclade. Targeting such amplification could assist with mitigating carbapenem resistance development.

microbiology↗

Long-read bitter gourd (Momordica charantia) genome and the genomic architecture of domestication

Bitter gourd (Momordica charantia) is a vegetable and medicinal plant of the family Cucurbitaceae. Here we report a chromosome-level assembly, with highest contig N50 (close to 10 Mb) and proportion of sequences placed on chromosomes (96%) in Cucurbitaceae. Population resequencing revealed the divergence between wild and cultivars at about 6000 years ago. Different cultivar groups have distinct allelic compositions in loci associated with domestication traits, suggesting phenotypic changes were achieved by allele frequency shifts in independent loci. Noticeably, one candidate locus for fruit size locates within a region missing from a recent Illumina-based assembly. Despite breeding efforts to increase female flower proportion, the gynoecy locus exhibits high variation within and low differentiation between wild and cultivar groups, likely because artificial directional selection could not overwhelm natural balancing selection. Our study provides resources to further investigate the genetic architecture of bitter gourd as well highlights the importance of a well-assembled genome.

genomics↗

Genome-Wide Polygenic Risk Scores and prediction of Gestational Diabetes in South Asian Women

Gestational diabetes Mellitus (GDM) affects 1 in 7 births and is associated with numerous adverse health outcomes for both mother and child. GDM is suspected to share a large common genetic background with type 2 diabetes (T2D). The first aim of this study, was to characterize different GDM polygenic risk scores (PRSs) using data from the South Asian Birth Cohort (START). The second aim of this study was to estimate the heritability of GDM.\n\nPRSs were derived for 832 South Asian women from START using the pruning and thresholding (P+T), LDpred, and GraBLD methods. Weights were derived from multi-ethnic (Mahajan et al., 2014) and white Caucasian (Scott et al., 2017) studies of the DIAGRAM consortium. Association with GDM was tested using logistic regression. Heritability of GDM was estimated using the GRMEL approach. Results were replicated in samples from the UK Biobank (UKB) study.\n\nThe top P+T, LDpred and GraBLD PRSs were all based on Mahajan et al. The best PRS was highly associated with GDM in START (AUC=0.62, OR=1.60 [95% CI=1.44-1.69]), and in South Asian (AUC=0.65) and white British (AUC=0.58) women from UKB. Heritability of GDM approximated 0.55{+/-}0.83 in START and 0.18{+/-}0.22 in white British women from UKB.\n\nOur results highlight the importance of combining genome-wide genotypes and summary statistics from large multi-ethnic studies to optimize PRSs in South Asians.

genomics↗

Penetrance of polygenic obesity susceptibility loci across the body mass index distribution: an update on scaling effects.

A growing number of single nucleotide polymorphisms (SNPs) have been associated with body mass index (BMI) and obesity, but whether the effect of these obesity susceptibility loci is uniform across the BMI distribution remains unclear. We studied the effects of 37 BMI/obesity-associated SNPs in 75,230 adults of European ancestry along BMI percentiles using conditional quantile regression (CQR) and meta-regression (MR) models. The effects of 9 SNPs (24%) increased significantly across the sample BMI distribution including, FTO (rs1421085, p=8.69x10-15), PCSK1 (rs6235, p=7.11x10-06), TCF7L2 (rs7903146, p=9.60x10-06), MC4R (rs11873305, p=5.08x10-05), FANCL (rs12617233, p=5.30x10-05), GIPR (rs11672660, p=1.64x-04), MAP2K5 (rs997295, p=3.25x10-04), FTO (rs6499653, p=6.23x10-04) and NT5C2 (rs3824755, p=7.90x10-04). We showed that such increases stem from unadjusted gene interactions that enhanced the effects of SNPs in persons with high BMI. When 125 height-associated were analyzed for comparison, only one (<1%), IGF1 (rs6219, p=1.80x10-04), showed effects that varied significantly across height percentiles. Cumulative gene scores of these SNPs (GS-BMI and GS-Height, respectively) showed that only GS-BMI had effects that increased significantly across the sample distribution (BMI: p=7.03x10-37, Height: p=0.499). Overall, these findings underscore the importance of gene-gene and gene-environment interactions in shaping the genetic architecture of BMI and advance a method to detect such interactions using only the sample outcome distribution.

genetics↗