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Application of partial least squares in exploring the genome selection signatures between populations.

ABSTRACT: Natural and artificial selection have led to substantial variation in the phenotypic traits of different populations. Therefore, there is a need to develop methods that are based on cross-population comparisons to discover loci related to specific traits. Here, we suggested a strategy to detect the genome selection signatures between populations based on the partial least squares (PLS) theory. Using the binary population indicator as the response variable in the PLS analysis, alleles under selection between populations were identified from the first PLS component. We explored the theory behind the PLS analysis to reveal its usefulness in detecting the loci under selection. Through the simulation study, the results showed that the PLS method had a better performance than the F_ST and EigenGWAS methods. In addition, by using the real data hapmap3, we found that rs11150606 in PRSS53 gene and rs1800414 in OCA2 gene were under selection between East Asian populations and three other populations, including African, American, and European populations. We concluded that this strategy was easily carried out and might supplement for the deficiency of the EigenGWAS method in some cases. To facilitate the application of this method, we developed an R script that is freely accessible at http://klab.sjtu.edu.cn/PLS/ .

SUBMITTER: Sun H

PROVIDER: S-EPMC6460753 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Application of partial least squares in exploring the genome selection signatures between populations.

Sun Hao H Zhang Zhe Z Olasege Babatunde Shittu BS Xu Zhong Z Zhao Qingbo Q Ma Peipei P Wang Qishan Q Pan Yuchun Y

Heredity 20180726 3

Natural and artificial selection have led to substantial variation in the phenotypic traits of different populations. Therefore, there is a need to develop methods that are based on cross-population comparisons to discover loci related to specific traits. Here, we suggested a strategy to detect the genome selection signatures between populations based on the partial least squares (PLS) theory. Using the binary population indicator as the response variable in the PLS analysis, alleles under selec ...[more]

PMID: 30050061

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Project description:BackgroundCurrently, there is very limited knowledge about the genes involved in normal pigmentation variation in East Asian populations. We carried out a genome-wide scan of signatures of positive selection using the 1000 Genomes Phase I dataset, in order to identify pigmentation genes showing putative signatures of selective sweeps in East Asia. We applied a broad range of methods to detect signatures of selection including: 1) Tests designed to identify deviations of the Site Frequency Spectrum (SFS) from neutral expectations (Tajima's D, Fay and Wu's H and Fu and Li's D* and F*), 2) Tests focused on the identification of high-frequency haplotypes with extended linkage disequilibrium (iHS and Rsb) and 3) Tests based on genetic differentiation between populations (LSBL). Based on the results obtained from a genome wide analysis of 25 kb windows, we constructed an empirical distribution for each statistic across all windows, and identified pigmentation genes that are outliers in the distribution.ResultsOur tests identified twenty genes that are relevant for pigmentation biology. Of these, eight genes (ATRN, EDAR, KLHL7, MITF, OCA2, TH, TMEM33 and TRPM1,) were extreme outliers (top 0.1% of the empirical distribution) for at least one statistic, and twelve genes (ADAM17, BNC2, CTSD, DCT, EGFR, LYST, MC1R, MLPH, OPRM1, PDIA6, PMEL (SILV) and TYRP1) were in the top 1% of the empirical distribution for at least one statistic. Additionally, eight of these genes (BNC2, EGFR, LYST, MC1R, OCA2, OPRM1, PMEL (SILV) and TYRP1) have been associated with pigmentary traits in association studies.ConclusionsWe identified a number of putative pigmentation genes showing extremely unusual patterns of genetic variation in East Asia. Most of these genes are outliers for different tests and/or different populations, and have already been described in previous scans for positive selection, providing strong support to the hypothesis that recent selective sweeps left a signature in these regions. However, it will be necessary to carry out association and functional studies to demonstrate the implication of these genes in normal pigmentation variation.

Project description:In a large cohort of older women, a mechanism-driven statistical technique for assessing dietary patterns that considers a potential nutrient pathway found two dietary patterns associated with lumbar spine and femoral neck bone mineral density. A "healthy" dietary pattern was observed to be beneficial for bone mineral density.IntroductionDietary patterns represent a broader, more realistic representation of how foods are consumed, compared to individual food or nutrient analyses. Partial least-squares (PLS) is a data-reduction technique for identifying dietary patterns that maximizes correlation between foods and nutrients hypothesized to be on the path to disease, is more hypothesis-driven than previous methods, and has not been applied to the study of dietary patterns in relation to bone health.MethodsWomen from the Aberdeen Prospective Osteoporosis Screening Study (2007-2011, n = 2129, age = 66 years (2.2)) provided dietary intake using a food frequency questionnaire; 37 food groups were created. We applied PLS to the 37 food groups and 9 chosen response variables (calcium, potassium, vitamin C, vitamin D, protein, alcohol, magnesium, phosphorus, zinc) to identify dietary patterns associated with bone mineral density (BMD) cross-sectionally. Multivariable regression was used to assess the relationship between the retained dietary patterns and BMD at the lumbar spine and femoral neck, adjusting for age, body mass index, physical activity level, smoking, and national deprivation category.ResultsFive dietary patterns were identified, explaining 25% of the variation in food groups and 77% in the response variables. Two dietary patterns were positively associated with lumbar spine (per unit increase in factor 2: 0.012 g/cm2 [95% CI: 0.006, 0.01]; factor 4: 0.007 g/cm2 [95% CI: 0.00001, 0.01]) and femoral neck (factor 2: 0.006 g/cm2 [95% CI: 0.002, 0.01]; factor 4: 0.008 g/cm2 [95% CI: 0.003, 0.01)]) BMD. Dietary pattern 2 was characterized by high intakes of milk, vegetables, fruit and vegetable juices, and wine, and low intakes of processed meats, cheese, biscuits, cakes, puddings, confectionary, sweetened fizzy drinks and spirits while dietary pattern 4 was characterized by high intakes of fruits, red and white meats, and wine, and low intakes of vegetables and sweet spreads.ConclusionOur findings using a robust statistical technique provided important support to initiatives focusing on what constitutes a healthy diet and its implications.

Project description:BackgroundDomestication and improvement processes, accompanied by selections and adaptations, have generated genome-wide divergence and stratification in soybean populations. Simultaneously, soybean populations, which comprise diverse subpopulations, have developed their own adaptive characteristics enhancing fitness, resistance, agronomic traits, and morphological features. The genetic traits underlying these characteristics play a fundamental role in improving other soybean populations.ResultsThis study focused on identifying the selection signatures and adaptive characteristics in soybean populations. A core set of 245 accessions (112 wild-type, 79 landrace, and 54 improvement soybeans) selected from 4,234 soybean accessions was re-sequenced. Their genomic architectures were examined according to the domestication and improvement, and accessions were then classified into 3 wild-type, 2 landrace, and 2 improvement subgroups based on various population analyses. Selection and gene set enrichment analyses revealed that the landrace subgroups have selection signals for soybean-cyst nematode HG type 0 and seed development with germination, and that the improvement subgroups have selection signals for plant development with viability and seed development with embryo development, respectively. The adaptive characteristic for soybean-cyst nematode was partially underpinned by multiple resistance accessions, and the characteristics related to seed development were supported by our phenotypic findings for seed weights. Furthermore, their adaptive characteristics were also confirmed as genome-based evidence, and unique genomic regions that exhibit distinct selection and selective sweep patterns were revealed for 13 candidate genes.ConclusionsAlthough our findings require further biological validation, they provide valuable information about soybean breeding strategies and present new options for breeders seeking donor lines to improve soybean populations.

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Application of partial least squares in exploring the genome selection signatures between populations.

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Application of partial least squares in exploring the genome selection signatures between populations.

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