Search

Your search keyword '"Poletti G"' showing total 407 results
Start Over Author "Poletti G"
407 results on '"Poletti G"'

2. SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis

Author

Martinelli, G, Mancini, M, De Benedittis, C, Rondoni, M, Papayannidis, C, Manfrini, M, Meggendorfer, M, Calogero, R, Guadagnuolo, V, Fontana, M C, Bavaro, L, Padella, A, Zago, E, Pagano, L, Zanotti, R, Scaffidi, L, Specchia, G, Albano, F, Merante, S, Elena, C, Savini, P, Gangemi, D, Tosi, P, Ciceri, F, Poletti, G, Riccioni, L, Morigi, F, Delledonne, M, Haferlach, T, Cavo, M, Valent, P, and Soverini, S

Published
2018
Full Text
View/download PDF

3. Disentangling Signatures of Selection Before and After European Colonization in Latin Americans

Author

Kim, Y, Mendoza-Revilla, J, Chacon-Duque, JC, Fuentes-Guajardo, M, Ormond, L, Wang, K, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera, R, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Rivera, KMB, Nieves-Colon, MA, Gignoux, CR, Wojcik, GL, Moreno-Estrada, A, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Fumagalli, M, Adhikari, K, Ruiz-Linares, A, Hellenthal, G, Kim, Y, Mendoza-Revilla, J, Chacon-Duque, JC, Fuentes-Guajardo, M, Ormond, L, Wang, K, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera, R, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Rivera, KMB, Nieves-Colon, MA, Gignoux, CR, Wojcik, GL, Moreno-Estrada, A, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Fumagalli, M, Adhikari, K, Ruiz-Linares, A, and Hellenthal, G

Abstract

Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.

Published
2022

5. Clotting factor genes are associated with preeclampsia in high altitude pregnant women in the Peruvian Andes

Author

Chen Jw, Celeste Eng, Malena Hurtado G, Maria A. Nieves-Colón, Poletti G, Enriquez Lencinas Le, Gonzalez Burchard E, Ortiz Tello P, Scott Huntsman, Moreno Estrada A, Condori Salas R, Genevieve L. Wojcik, Badillo Rivera Km, Gallo C, Cebrecos R, Erin Rawls, Sandoval Mendoza K, Alexandra Sockell, Zhang Et, Carlos Bustamante, Manzaneda Choque Jc, Manzaneda Choque Fp, Yabar Pilco Gp, Villanueva Davalos, Barker Jc, and Christopher R. Gignoux

Subjects
Clotting factor, Pregnancy, education.field_of_study, business.industry, Population, Genome-wide association study, Disease, medicine.disease, Health equity, Health care, Medicine, business, education, Blood sampling, Demography
Abstract

Study questionWhat is the genetic basis of preeclampsia in Andean families residing at high altitudes?Summary answerA top candidate region associated with preeclampsia containing clotting factor genesPROZ, F7andF10was found on chromosome 13 of the fetal genome in affected Andean families.What is known alreadyPreeclampsia, a multi-organ complication of pregnancy, is a leading cause of maternal morbidity and mortality worldwide. Diagnosed by the onset of maternal hypertension and proteinuria after 20 weeks of gestation, this disorder is a common cause of preterm delivery and affects approximately 5-7% of global pregnancies. The heterogeneity of preeclampsia has posed a challenge in understanding its etiology and molecular basis. However, risk for the condition is known to increase in high altitude regions such as the Peruvian Andes.Study design, size, durationTo investigate the genetic basis of preeclampsia in a high-altitude resident population, we characterized genetic diversity in a cohort of Andean families (N=883) from Puno, Peru, a high-altitude city above 3,500 meters. Our study collected DNA samples and medical records from case-control trios and duos between 2011-2016, thus allowing for measurement of maternal, paternal, and fetal genetic factors influencing preeclampsia risk.Participants/materials, setting, methodsWe generated high-density genotype data for 439,314 positions across the genome, determined ancestry patterns and mapped associations between genetic variants and preeclampsia phenotype. We also conducted fine mapping of potential causal variants in a subset of family participants and tested ProZ protein levels in post-partum maternal and cord blood plasma by ELISA.Main results and the role of chanceA transmission disequilibrium test (TDT) revealed variants near genes of biological importance in pregnancy physiology for placental and blood vessel function. The most significant SNP in this cluster, rs5960 (p−6) is a synonymous variant in the clotting factorF10. Two other members of the coagulation cascade,F7andPROZ, are also in the top associated region. However, we detected no difference of PROZ levels in maternal or umbilical cord plasma.Limitations, reasons for cautionOur genome-wide association analysis (GWAS) was limited by a small sample size and lack of functional follow up. Our ELISA was limited to post-natal blood sampling (only samples collected immediately after birth). But, despite a small sample size, our family based GWAS design permits identification of novel significant and suggestive associations with preeclampsia. Further longitudinal studies could analyze clotting factor levels and activity in other pregnant cohorts in Peru to assess the impact of thrombosis in preeclampsia risk among Andean highlanders.Wider implications of the findingsThese findings support previous evidence suggesting that coagulation plays an important role in the pathology of preeclampsia and potentially underlies susceptibility to other pregnancy disorders exacerbated at high altitudes. This discovery of a novel association related to a functional pathway relevant to pregnancy biology in an understudied population of Native American origin demonstrates the increased power of family-based study design and underscores the importance of conducting genetic research in diverse populations.Study funding/competing interest(s)This work was supported in part by the National Science Foundation (NSF) Graduate Research Fellowship Program Grant No. DGE–1147470 awarded to K.M.B.R. (fellow no. 2014187481); NSF SBE Postdoctoral Research Fellowship Award No. 1711982 awarded to M.N.C.; an A.P. Giannini Foundation postdoctoral fellowship, a Stanford Child Health Research Institute postdoctoral award, and a Stanford Dean’s Postdoctoral Fellowship awarded to E.T.Z.; the Chan Zuckerberg Biohub Investigator Award to C.D.B; a Burroughs Welcome Prematurity Initiative Award to J.C.B.; the George Rosenkranz Prize for Health Care Research in Developing Countries, and the International Center for Genetic Engineering and Biotechnology (ICGEB, Italy) grant CRP/ MEX15-04_EC, and Mexico’s CONACYT grant FONCICYT/50/2016, each awarded to A.M.E. Further funding was provided by the Sandler Family Foundation, the American Asthma Foundation, the RWJF Amos Medical Faculty Development Program, Harry Wm. and Diana V. Hind Distinguished Professor in Pharmaceutical Sciences II, National Institutes of Health, National Heart, Lung, and Blood Institute Awards R01HL117004, R01HL128439, R01HL135156, R01HL141992, National Institute of Health and Environmental Health Sciences Awards R01ES015794, R21ES24844, the National Institute on Minority Health and Health Disparities Awards R01MD010443, and R56MD013312, and the National Human Genome Research Institute Award U01HG009080, each awarded to E.G.B. Author J.W.C. is currently a full-time employee at Genentech, Inc. and hold stocks in Roche Holding AG. Author E.G.B. reports grants from the National Institute of Health, Lung, Blood Institute, the National Institute of Health, General Medical Sciences, the National Institute on Minority Health and Health Disparities, the Tobacco-Related Disease Research Program, the Food and Drug Administration, and the Sandler Family Foundation, during the conduct of the study.Trial registration numberN/A*for MESH terms see PubMed athttp://www.ncbi.nlm.nih.gov/pubmed/

Published
2021

6. A GWAS identifies novel gene associations with facial skin wrinkling and mole count in Latin‐Americans

Author

Chen, Y., André, M., Adhikari, K., Blin, M., Bonfante, B., Mendoza‐Revilla, J., Fuentes‐Guajardo, M., Palmal, S., Chacón‐Duque, J.C., Hurtado, M., Villegas, V., Granja, V., Jaramillo, C., Arias, W., Lozano, R.B., Everardo‐Martínez, P., Gómez‐Valdés, J., Villamil‐Ramírez, H., de Cerqueira, C.C.S., Hünemeier, T., Ramallo, V., Gonzalez‐José, R., Schüler‐Faccini, L., Bortolini, M.‐C., Acuña‐Alonzo, V., Canizales‐Quinteros, S., Gallo, C., Poletti, G., Bedoya, G., Rothhammer, F., Balding, D., Tobin, D.J., Wang, S., Faux, P., Ruiz‐Linares, A., Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), and Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2021

7. A genome‐wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans

Author

Chen, Y., primary, André, M., additional, Adhikari, K., additional, Blin, M., additional, Bonfante, B., additional, Mendoza‐Revilla, J., additional, Fuentes‐Guajardo, M., additional, Palmal, S., additional, Chacón‐Duque, J.C., additional, Hurtado, M., additional, Villegas, V., additional, Granja, V., additional, Jaramillo, C., additional, Arias, W., additional, Lozano, R.B., additional, Everardo‐Martínez, P., additional, Gómez‐Valdés, J., additional, Villamil‐Ramírez, H., additional, Cerqueira, C.C.S., additional, Hünemeier, T., additional, Ramallo, V., additional, Gonzalez‐José, R., additional, Schüler‐Faccini, L., additional, Bortolini, M.‐C., additional, Acuña‐Alonzo, V., additional, Canizales‐Quinteros, S., additional, Gallo, C., additional, Poletti, G., additional, Bedoya, G., additional, Rothhammer, F., additional, Balding, D., additional, Tobin, D.J., additional, Wang, S., additional, Faux, P., additional, and Ruiz‐Linares, A., additional

Published
2021
Full Text
View/download PDF

9. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

Author

Bonfante, B. (Betty), Faux, P. (Pierre), Navarro, N. (Nicolas), Mendoza-Revilla, J. (Javier), Dubied, M. (Morgane), Montillot, C. (Charlotte), Wentworth, E. (Emma), Poloni, L. (Lauriane), Varón-González, C. (Ceferino), Jones, P. (Philip), Xiong, Z. (Ziyi), Fuentes-Guajardo, M. (Macarena), Palmal, S. (Sagnik), Chacón-Duque, J.C. (Juan Camilo), Hurtado, M. (Malena), Villegas, V. (Valeria), Granja, V. (Vanessa), Jaramillo, C. (Claudia), Arias, W. (William), Barquera, R. (Rodrigo), Everardo-Martínez, P. (Paola), Sánchez-Quinto, M. (Mirsha), Gómez-Valdés, J. (Jorge), Villamil-Ramírez, H. (Hugo), Silva de Cerqueira, C.C. (Caio C.), Hünemeier, T. (Tábita), Ramallo, V. (Virginia), Liu, F. (Fan), Weinberg, S.M. (Seth M.), Shaffer, J.R. (John R), Stergiakouli, E. (Evie), Howe, L.J. (Laurence J.), Hysi, P.G. (Pirro G.), Spector, T.D. (Timothy D.), Gonzalez-José, R. (Rolando), Schüler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Acuña-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Thauvin-Robinet, C. (Christel), Faivre, L. (Laurence), Costedoat, C. (Caroline), Balding, D.J. (David), Cox, T. (Timothy), Kayser, M.H. (Manfred), Duplomb, L. (Laurence), Yalcin, B. (Binnaz), Cotney, J. (Justin), Adhikari, K. (Kaustubh), Ruiz-Linares, A. (Andres), Bonfante, B. (Betty), Faux, P. (Pierre), Navarro, N. (Nicolas), Mendoza-Revilla, J. (Javier), Dubied, M. (Morgane), Montillot, C. (Charlotte), Wentworth, E. (Emma), Poloni, L. (Lauriane), Varón-González, C. (Ceferino), Jones, P. (Philip), Xiong, Z. (Ziyi), Fuentes-Guajardo, M. (Macarena), Palmal, S. (Sagnik), Chacón-Duque, J.C. (Juan Camilo), Hurtado, M. (Malena), Villegas, V. (Valeria), Granja, V. (Vanessa), Jaramillo, C. (Claudia), Arias, W. (William), Barquera, R. (Rodrigo), Everardo-Martínez, P. (Paola), Sánchez-Quinto, M. (Mirsha), Gómez-Valdés, J. (Jorge), Villamil-Ramírez, H. (Hugo), Silva de Cerqueira, C.C. (Caio C.), Hünemeier, T. (Tábita), Ramallo, V. (Virginia), Liu, F. (Fan), Weinberg, S.M. (Seth M.), Shaffer, J.R. (John R), Stergiakouli, E. (Evie), Howe, L.J. (Laurence J.), Hysi, P.G. (Pirro G.), Spector, T.D. (Timothy D.), Gonzalez-José, R. (Rolando), Schüler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Acuña-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Thauvin-Robinet, C. (Christel), Faivre, L. (Laurence), Costedoat, C. (Caroline), Balding, D.J. (David), Cox, T. (Timothy), Kayser, M.H. (Manfred), Duplomb, L. (Laurence), Yalcin, B. (Binnaz), Cotney, J. (Justin), Adhikari, K. (Kaustubh), and Ruiz-Linares, A. (Andres)

Abstract

To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.

Published
2021
Full Text
View/download PDF

10. Prediction of eye, hair and skin colour in Latin Americans

Author

Palmal, S, Adhikari, K, Mendoza-Revilla, J, Fuentes-Guajardo, M, de Cerqueira, CCS, Bonfante, B, Chacon-Duque, JC, Sohail, A, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Everardo-Martinez, P, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Parolin, M-L, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, M-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Faux, P, Ruiz-Linares, A, Palmal, S, Adhikari, K, Mendoza-Revilla, J, Fuentes-Guajardo, M, de Cerqueira, CCS, Bonfante, B, Chacon-Duque, JC, Sohail, A, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Everardo-Martinez, P, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Parolin, M-L, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, M-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Faux, P, and Ruiz-Linares, A

Abstract

Here we evaluate the accuracy of prediction for eye, hair and skin pigmentation in a dataset of > 6500 individuals from Mexico, Colombia, Peru, Chile and Brazil (including genome-wide SNP data and quantitative/categorical pigmentation phenotypes - the CANDELA dataset CAN). We evaluated accuracy in relation to different analytical methods and various phenotypic predictors. As expected from statistical principles, we observe that quantitative traits are more sensitive to changes in the prediction models than categorical traits. We find that Random Forest or Linear Regression are generally the best performing methods. We also compare the prediction accuracy of SNP sets defined in the CAN dataset (including 56, 101 and 120 SNPs for eye, hair and skin colour prediction, respectively) to the well-established HIrisPlex-S SNP set (including 6, 22 and 36 SNPs for eye, hair and skin colour prediction respectively). When training prediction models on the CAN data, we observe remarkably similar performances for HIrisPlex-S and the larger CAN SNP sets for the prediction of hair (categorical) and eye (both categorical and quantitative), while the CAN sets outperform HIrisPlex-S for quantitative, but not for categorical skin pigmentation prediction. The performance of HIrisPlex-S, when models are trained in a world-wide sample (although consisting of 80% Europeans, https://hirisplex.erasmusmc.nl), is lower relative to training in the CAN data (particularly for hair and skin colour). Altogether, our observations are consistent with common variation of eye and hair colour having a relatively simple genetic architecture, which is well captured by HIrisPlex-S, even in admixed Latin Americans (with partial European ancestry). By contrast, since skin pigmentation is a more polygenic trait, accuracy is more sensitive to prediction SNP set size, although here this effect was only apparent for a quantitative measure of skin pigmentation. Our results support the use of HIrisPlex-S in the pr

Published
2021

11. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

Author

Bonfante, B, Faux, P, Navarro, N, Mendoza-Revilla, J, Dubied, M, Montillot, C, Wentworth, E, Poloni, L, Varon-Gonzalez, C, Jones, P, Xiong, Z, Fuentes-Guajardo, M, Palmal, S, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Barquera, R, Everardo-Martinez, P, Sanchez-Quinto, M, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Hunemeier, T, Ramallo, V, Liu, F, Weinber, SM, Shaffer, JR, Stergiakouli, E, Howe, LJ, Hysi, PG, Spector, TD, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, R-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Thauvin-Robinet, C, Faivre, L, Costedoat, C, Balding, D, Cox, T, Kayser, M, Duplomb, L, Yalcin, B, Cotney, J, Adhikari, K, Ruiz-Linares, A, Bonfante, B, Faux, P, Navarro, N, Mendoza-Revilla, J, Dubied, M, Montillot, C, Wentworth, E, Poloni, L, Varon-Gonzalez, C, Jones, P, Xiong, Z, Fuentes-Guajardo, M, Palmal, S, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Barquera, R, Everardo-Martinez, P, Sanchez-Quinto, M, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Hunemeier, T, Ramallo, V, Liu, F, Weinber, SM, Shaffer, JR, Stergiakouli, E, Howe, LJ, Hysi, PG, Spector, TD, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, R-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Thauvin-Robinet, C, Faivre, L, Costedoat, C, Balding, D, Cox, T, Kayser, M, Duplomb, L, Yalcin, B, Cotney, J, Adhikari, K, and Ruiz-Linares, A

Abstract

To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.

Published
2021

12. A genome-wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans

Author

Chen, Y, Andre, M, Adhikari, K, Blin, M, Bonfante, B, Mendoza-Revilla, J, Fuentes-Guajardo, M, Palmal, S, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Lozano, RB, Everardo-Martinez, P, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Hunemeier, T, Ramallo, V, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, M-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Tobin, DJ, Wang, S, Faux, P, Ruiz-Linares, A, Chen, Y, Andre, M, Adhikari, K, Blin, M, Bonfante, B, Mendoza-Revilla, J, Fuentes-Guajardo, M, Palmal, S, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Jaramillo, C, Arias, W, Lozano, RB, Everardo-Martinez, P, Gomez-Valdes, J, Villamil-Ramirez, H, de Cerqueira, CCS, Hunemeier, T, Ramallo, V, Gonzalez-Jose, R, Schuler-Faccini, L, Bortolini, M-C, Acuna-Alonzo, V, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Balding, D, Tobin, DJ, Wang, S, Faux, P, and Ruiz-Linares, A

Abstract

BACKGROUND: Genome-wide association studies (GWASs) have identified genes influencing skin ageing and mole count in Europeans, but little is known about the relevance of these (or other genes) in non-Europeans. OBJECTIVES: To conduct a GWAS for facial skin ageing and mole count in adults < 40 years old, of mixed European, Native American and African ancestry, recruited in Latin America. METHODS: Skin ageing and mole count scores were obtained from facial photographs of over 6000 individuals. After quality control checks, three wrinkling traits and mole count were retained for genetic analyses. DNA samples were genotyped with Illumina's HumanOmniExpress chip. Association testing was performed on around 8 703 729 single-nucleotide polymorphisms (SNPs) across the autosomal genome. RESULTS: Genome-wide significant association was observed at four genome regions: two were associated with wrinkling (in 1p13·3 and 21q21·2), one with mole count (in 1q32·3) and one with both wrinkling and mole count (in 5p13·2). Associated SNPs in 5p13·2 and in 1p13·3 are intronic within SLC45A2 and VAV3, respectively, while SNPs in 1q32·3 are near the SLC30A1 gene, and those in 21q21·2 occur in a gene desert. Analyses of SNPs in IRF4 and MC1R are consistent with a role of these genes in skin ageing. CONCLUSIONS: We replicate the association of wrinkling with variants in SLC45A2, IRF4 and MC1R reported in Europeans. We identify VAV3 and SLC30A1 as two novel candidate genes impacting on wrinkling and mole count, respectively. We provide the first evidence that SLC45A2 influences mole count, in addition to variants in this gene affecting melanoma risk in Europeans.

Published
2021

18. Optical and structural properties of siliconlike films prepared by plasma-enhanced chemical-vapor deposition

Author

Cremona, A., Orsini, F., Laguardia, L., Poletti, G., Vassallo, E., Ambrosone, G., and Coscia, U.

Subjects
Dielectric films -- Research, Thin films -- Research, Silicon compounds -- Optical properties, Silicon compounds -- Chemical properties, Physics
Abstract

The amorphous siliconlike thin films deposited by plasma-enhanced chemical-vapor deposition using hexamethyldisiloxane as monomer and Ar as feed gas is investigated for their optical and structural properties as a function of the deposition power, in the range of 100-400 W. The automic force Microscopy analysis confirms the amorphous character of the films and shows how the deposited layers become flatter and more compact when power increases.

Published
2005

19. Reported versus confirmed wheeze and lung function in early life

Author

Lowe, L., Murray, C.S., Martin, L., Deas, J., Cashin, E., Poletti, G., Simpson, A., Woodcock, A., and Custovic, A.

Subjects
Lung diseases -- Diagnosis, Physicians -- Beliefs, opinions and attitudes, Parents -- Beliefs, opinions and attitudes, Children -- Health aspects, Wheeze, Pulmonary function tests
Published
2004

21. Abstracts from the 13th EUROCAT SCIENTIFIC SYMPOSIUM: Advancing congenital anomaly research through collaboration, 16-17 June 2016, Milan, Italy

Author

Vinkel-Hansen, A, Garne, E, Andersen AMN, poletti g, cocchi g, rocca a, Vinkel-Hansen, A, Garne, E, and Andersen, AMN, poletti g, cocchi g, rocca a

Subjects
Embryology, Pediatrics, medicine.medical_specialty, business.industry, Pediatrics, Perinatology and Child Health, medicine, Congenital diaphragmatic hernia, General Medicine, medicine.disease, business, Developmental Biology
Published
2016

27. Novel genetic loci affecting facial shape variation in humans

Author

Xiong, Z. (Ziyi), Dankova, G. (Gabriela), Howe, L.J. (Laurence J.), Lee, M.K. (Myoung Keun), Hysi, P.G. (Pirro G.), Jong, M.A. (Markus) de, Zhu, G. (Gu), Adhikari, K. (Kaustubh), Li, D. (Dan), Li, Y. (Yi), Pan, B. (Bo), Feingold, E. (Eleanor), Marazita, M.L. (Mary), Shaffer, J.R. (John R), McAloney, K. (Kerrie), Xu, S. (Shuhua), Jin, L. (Li), Wang, S. (Sijia), Vrij, F.M.S. (Femke), Lendemeijer, B. (Bas), Richmond, S. (Stephen), Zhurov, A. (Alexei), Lewis, S. (Sarah), Sharp, G.C. (Gemma C.), Paternoster, L. (Lavinia), Thompson, H. (Holly), Gonzalez-Jose, R. (Rolando), Bortolini, M.C. (Maria Catira), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Wolvius, E.B. (Eppo), Kushner, S.A. (Steven), Nijsten, T.E.C. (Tamar), Palstra, R.-J.T.S. (Robert-Jan), Boehringer, S. (Stefan), Medland, S.E. (Sarah), Tang, K. (Kun), Ruiz-Linares, A. (Andres), Martin, N.G. (Nicholas), Spector, T.D. (Timothy), Stergiakouli, E. (Evie), Weinberg, S.M. (Seth M.), Liu, F. (Fan), Kayser, M.H. (Manfred), Xiong, Z. (Ziyi), Dankova, G. (Gabriela), Howe, L.J. (Laurence J.), Lee, M.K. (Myoung Keun), Hysi, P.G. (Pirro G.), Jong, M.A. (Markus) de, Zhu, G. (Gu), Adhikari, K. (Kaustubh), Li, D. (Dan), Li, Y. (Yi), Pan, B. (Bo), Feingold, E. (Eleanor), Marazita, M.L. (Mary), Shaffer, J.R. (John R), McAloney, K. (Kerrie), Xu, S. (Shuhua), Jin, L. (Li), Wang, S. (Sijia), Vrij, F.M.S. (Femke), Lendemeijer, B. (Bas), Richmond, S. (Stephen), Zhurov, A. (Alexei), Lewis, S. (Sarah), Sharp, G.C. (Gemma C.), Paternoster, L. (Lavinia), Thompson, H. (Holly), Gonzalez-Jose, R. (Rolando), Bortolini, M.C. (Maria Catira), Canizales-Quinteros, S. (Samuel), Gallo, C. (Carla), Poletti, G. (Giovanni), Bedoya, E.G. (Elsie), Rothhammer, F. (Francisco), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Wolvius, E.B. (Eppo), Kushner, S.A. (Steven), Nijsten, T.E.C. (Tamar), Palstra, R.-J.T.S. (Robert-Jan), Boehringer, S. (Stefan), Medland, S.E. (Sarah), Tang, K. (Kun), Ruiz-Linares, A. (Andres), Martin, N.G. (Nicholas), Spector, T.D. (Timothy), Stergiakouli, E. (Evie), Weinberg, S.M. (Seth M.), Liu, F. (Fan), and Kayser, M.H. (Manfred)

Abstract

The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (padjusted < 2.1 × 10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.

Published
2019
Full Text
View/download PDF

28. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

Author

Adhikari, K, Mendoza-Revilla, J, Sohail, A, Fuentes-Guajardo, M, Lampert, J, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Everardo, P, Gomez-Valdes, J, Villamil-Ramirez, H, Silva de Cerqueira, CC, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Salzano, FM, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Tobin, DJ, Fumagalli, M, Balding, D, Ruiz-Linares, A, Adhikari, K, Mendoza-Revilla, J, Sohail, A, Fuentes-Guajardo, M, Lampert, J, Chacon-Duque, JC, Hurtado, M, Villegas, V, Granja, V, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Everardo, P, Gomez-Valdes, J, Villamil-Ramirez, H, Silva de Cerqueira, CC, Hunemeier, T, Ramallo, V, Schuler-Faccini, L, Salzano, FM, Gonzalez-Jose, R, Bortolini, M-C, Canizales-Quinteros, S, Gallo, C, Poletti, G, Bedoya, G, Rothhammer, F, Tobin, DJ, Fumagalli, M, Balding, D, and Ruiz-Linares, A

Abstract

We report a genome-wide association scan in >6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12, a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.

Published
2019

33. Latin Americans show wide-spread Converso ancestry and the imprint of local Native ancestry on physical appearance

Author

Chacon-Duque, J., Adhikari, K., Fuentes-Guajardo, M., Mendoza-Revilla, J., Acuna-Alonzo, V., Barquera Lozano, R., Quinto-Sanchez, M., Gomez-Valdes, J., Everardo Martinez, P., Villamil-Ramirez, H., Hunemeier, T., Ramallo, V., Silva de Cerqueira, C., Hurtado, M., Villegas, V., Granja, V., Villena, M., Vasquez, R., Llop, E., Sandoval, J., Salazar-Granara, A., Parolin, M., Sandoval, K., Penaloza-Espinosa, R., Rangel-Villalobos, H., Winkler, C., Klitz, W., Bravi, C., Molina, J., Corach, D., Barrantes, R., Gomes, V., Resende, C., Gusmao, L., Amorim, A., Xue, Y., Dugoujon, J., Moral, P., Gonzalez-Jose, R., Schuler-Faccini, L., Salzano, F., Bortolini, M., Canizales-Quinteros, S., Poletti, G., Gallo, C., Bedoya, G., Rothhammer, F., Balding, D., Hellenthal, G., and Ruiz-Linares, A.

Subjects
parasitic diseases
Abstract

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the admixture of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods here we infer the sub-populations involved in admixture for over 6,500 Latin Americans and evaluate the impact of sub-continental ancestry on the physical appearance of these individuals. We find that pre-Columbian Native genetic structure is mirrored in Latin Americans and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that Central Andean ancestry impacts on variation of facial features in Latin Americans, particularly nose morphology, possibly relating to environmental adaptation during the evolution of Native Americans.

Published
2018

36. Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

Author

Wu, S. (Sijie), Zhang, M. (Manfei), Yang, X. (Xinzhou), Peng, F. (Fuduan), Zhang, J. (Juan), Tan, J. (Jingze), Yang, Y. (Yajun), Wang, L. (Lina), Hu, Y. (Yanan), Peng, Q. (Qianqian), Li, J. (Jinxi), Liu, Y. (Yu), Guan, Y. (Yaqun), Chen, C. (Chen), Hamer, M.A. (Merel), Nijsten, T.E.C. (Tamar), Zeng, C. (Changqing), Adhikari, K. (Kaustubh), Gallo, C. (Carla), Poletti, G. (Giovanni), Schuler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Canizales-Quinteros, S. (Samuel), Rothhammer, F. (Francisco), Bedoya, E.G. (Elsie), González-José, R. (Rolando), Li, H. (Hui), Krutmann, J. (Jean), Liu, F. (Fan), Kayser, M.H. (Manfred), Ruiz-Linares, A. (Andres), Tang, K. (Kun), Xu, S. (Shuhua), Zhang, L. (Liang), Jin, L. (Li), Wang, S. (Sijia), Wu, S. (Sijie), Zhang, M. (Manfei), Yang, X. (Xinzhou), Peng, F. (Fuduan), Zhang, J. (Juan), Tan, J. (Jingze), Yang, Y. (Yajun), Wang, L. (Lina), Hu, Y. (Yanan), Peng, Q. (Qianqian), Li, J. (Jinxi), Liu, Y. (Yu), Guan, Y. (Yaqun), Chen, C. (Chen), Hamer, M.A. (Merel), Nijsten, T.E.C. (Tamar), Zeng, C. (Changqing), Adhikari, K. (Kaustubh), Gallo, C. (Carla), Poletti, G. (Giovanni), Schuler-Faccini, L. (Lavinia), Bortolini, M.-C. (Maria-Cátira), Canizales-Quinteros, S. (Samuel), Rothhammer, F. (Francisco), Bedoya, E.G. (Elsie), González-José, R. (Rolando), Li, H. (Hui), Krutmann, J. (Jean), Liu, F. (Fan), Kayser, M.H. (Manfred), Ruiz-Linares, A. (Andres), Tang, K. (Kun), Xu, S. (Shuhua), Zhang, L. (Liang), Jin, L. (Li), and Wang, S. (Sijia)

Abstract

Hair plays an important role in primates and is clearly subject to adaptive selection. While humans have lost most facial hair, eyebrows are a notable exception. Eyebrow thickness is heritable and widely believed to be subject to sexual selection. Nevertheless, few genomic studies have explored its genetic basis. Here, we performed a genome-wide scan for eyebrow thickness in 2961 Han Chinese. We identified two new loci of genome-wide significance, at 3q26.33 near SOX2 (rs1345417: P = 6.51×10−10) and at 5q13.2 near FOXD1 (rs12651896: P = 1.73×10−8). We further replicated our findings in the Uyghurs, a population from China characterized by East Asian-European admixture (N = 721), the CANDELA cohort from five Latin American countries (N = 2301), and the Rotterdam Study cohort of Dutch Europeans (N = 4411). A meta-analysis combining the full GWAS results from the three cohorts of full or partial Asian descent (Han Chinese, Uyghur and Latin Americans, N = 5983) highlighted a third signal of genome-wide significance at 2q12.3 (rs1866188: P = 5.81×10−11) near EDAR. We performed fine-mapping and prioritized four variants for further experimental verification. CRISPR/Cas9-mediated gene editing provided evidence that rs1345417 and rs12651896 affect the transcriptional activity of the nearby SOX2 and FOXD1 genes, which are both involved in hair development. Finally, suitable statistical analyses revealed that none of the associated variants showed clear signals of selection in any of the pop

Published
2018
Full Text
View/download PDF

37. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

Author

Liu, F. (Fan), Chen, Y. (Yan), Zhu, G. (Gu), Hysi, P.G. (Pirro), Wu, S. (Sijie), Adhikari, K. (Kaustubh), Breslin, K. (Krystal), Pośpiech, E. (Ewelina), Hamer, M.A. (Merel), Peng, F. (Fuduan), Muralidharan, C. (Charanya), Acuna-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Bedoya, E.G. (Elsie), Gallo, C. (Carla), Poletti, G. (Giovanni), Rothhammer, F. (Francisco), Bortolini, M.C. (Maria Catira), Gonzalez-Jose, R. (Rolando), Zeng, C. (Changqing), Xu, S. (Shuhua), Jin, L. (Li), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Duijn, C.M. (Cornelia) van, Nijsten, T.E.C. (Tamar), Walsh, S. (Susan), Branicki, W. (Wojciech), Wang, S. (Sijia), Ruiz-Linares, A. (Andres), Spector, T.D. (Timothy), Martin, N.G. (Nicholas G.), Medland, S.E. (Sarah), Kayser, M.H. (Manfred), Liu, F. (Fan), Chen, Y. (Yan), Zhu, G. (Gu), Hysi, P.G. (Pirro), Wu, S. (Sijie), Adhikari, K. (Kaustubh), Breslin, K. (Krystal), Pośpiech, E. (Ewelina), Hamer, M.A. (Merel), Peng, F. (Fuduan), Muralidharan, C. (Charanya), Acuna-Alonzo, V. (Victor), Canizales-Quinteros, S. (Samuel), Bedoya, E.G. (Elsie), Gallo, C. (Carla), Poletti, G. (Giovanni), Rothhammer, F. (Francisco), Bortolini, M.C. (Maria Catira), Gonzalez-Jose, R. (Rolando), Zeng, C. (Changqing), Xu, S. (Shuhua), Jin, L. (Li), Uitterlinden, A.G. (André), Ikram, M.A. (Arfan), Duijn, C.M. (Cornelia) van, Nijsten, T.E.C. (Tamar), Walsh, S. (Susan), Branicki, W. (Wojciech), Wang, S. (Sijia), Ruiz-Linares, A. (Andres), Spector, T.D. (Timothy), Martin, N.G. (Nicholas G.), Medland, S.E. (Sarah), and Kayser, M.H. (Manfred)

Abstract

Shape variation of human head hair shows striking variation within and between human populations, while its genetic basis is far from being understood. We performed a series of genome-wide association studies (GWASs) and replication studies in a total of 28 964 subjects from 9 cohorts from multiple geographic origins. A meta-analysis of three European GWASs identified 8 novel loci (1p36.23 E

Published
2018
Full Text
View/download PDF

38. Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Author

Chacon-Duque, J-C, Adhikari, K, Fuentes-Guajardo, M, Mendoza-Revilla, J, Acuna-Alonzo, V, Barquera, R, Quinto-Sanchez, M, Gomez-Valdes, J, Everardo Martinez, P, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Villena, M, Vasquez, R, Llop, E, Sandoval, JR, Salazar-Granara, AA, Parolin, M-L, Sandoval, K, Penaloza-Espinosa, RI, Rangel-Villalobos, H, Winkler, CA, Klitz, W, Bravi, C, Molina, J, Corach, D, Barrantes, R, Gomes, V, Resende, C, Gusmao, L, Amorim, A, Xue, Y, Dugoujon, J-M, Moral, P, Gonzalez-Jose, R, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Poletti, G, Gallo, C, Bedoya, G, Rothhammer, F, Balding, D, Hellenthal, G, Ruiz-Linares, A, Chacon-Duque, J-C, Adhikari, K, Fuentes-Guajardo, M, Mendoza-Revilla, J, Acuna-Alonzo, V, Barquera, R, Quinto-Sanchez, M, Gomez-Valdes, J, Everardo Martinez, P, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Villena, M, Vasquez, R, Llop, E, Sandoval, JR, Salazar-Granara, AA, Parolin, M-L, Sandoval, K, Penaloza-Espinosa, RI, Rangel-Villalobos, H, Winkler, CA, Klitz, W, Bravi, C, Molina, J, Corach, D, Barrantes, R, Gomes, V, Resende, C, Gusmao, L, Amorim, A, Xue, Y, Dugoujon, J-M, Moral, P, Gonzalez-Jose, R, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Poletti, G, Gallo, C, Bedoya, G, Rothhammer, F, Balding, D, Hellenthal, G, and Ruiz-Linares, A

Abstract

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.

Published
2018

39. Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

Author

Wu, SJ, Zhang, MF, Yang, XZ, Peng, FD, Zhang, J, Tan, JZ, Yang, YJ, Wang, LN (Lina), Hu, YN, Peng, QQ, Li, JX, Liu, Y, Guan, YQ, Chen, C, Hamer, Merel, Nijsten, Tamar, Zeng, CQ, Adhikari, K, Gallo, C, Poletti, G, Schuler-Faccini, L, Bortolini, MC, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Gonzalez-Jose, R, Li, H, Krutmann, J, Liu, Fan, Kayser, Manfred, Ruiz-Linares, A, Tang, K, Xu, SH, Zhang, Lei, Jin, L, Wang, SJ, Wu, SJ, Zhang, MF, Yang, XZ, Peng, FD, Zhang, J, Tan, JZ, Yang, YJ, Wang, LN (Lina), Hu, YN, Peng, QQ, Li, JX, Liu, Y, Guan, YQ, Chen, C, Hamer, Merel, Nijsten, Tamar, Zeng, CQ, Adhikari, K, Gallo, C, Poletti, G, Schuler-Faccini, L, Bortolini, MC, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Gonzalez-Jose, R, Li, H, Krutmann, J, Liu, Fan, Kayser, Manfred, Ruiz-Linares, A, Tang, K, Xu, SH, Zhang, Lei, Jin, L, and Wang, SJ

Published
2018

40. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

Author

Liu, Fan, Chen, Y, Zhu, G, Hysi, PG, Wu, SJ, Adhikari, K, Breslin, K, Pospiech, E, Hamer, Merel, Peng, FD, Muralidharan, C, Acuna-Alonzo, V, Canizales-Quinteros, S, Bedoya, G, Gallo, C, Poletti, G, Rothhammer, F, Bortolini, MC, Gonzalez-Jose, R, Zeng, CQ, Xu, SH, Jin, L, Uitterlinden, André, Ikram, Arfan, Duijn, Cornelia, Nijsten, Tamar, Walsh, Susan, Branicki, W, Wang, SJ, Ruiz-Linares, A, Spector, TD, Martin, NG, Medland, SE, Kayser, Manfred, Liu, Fan, Chen, Y, Zhu, G, Hysi, PG, Wu, SJ, Adhikari, K, Breslin, K, Pospiech, E, Hamer, Merel, Peng, FD, Muralidharan, C, Acuna-Alonzo, V, Canizales-Quinteros, S, Bedoya, G, Gallo, C, Poletti, G, Rothhammer, F, Bortolini, MC, Gonzalez-Jose, R, Zeng, CQ, Xu, SH, Jin, L, Uitterlinden, André, Ikram, Arfan, Duijn, Cornelia, Nijsten, Tamar, Walsh, Susan, Branicki, W, Wang, SJ, Ruiz-Linares, A, Spector, TD, Martin, NG, Medland, SE, and Kayser, Manfred

Published
2018

41. University exams at the time of Covid-19 The reactions of students between emotionality and cognition

Author

Poletti Giorgio and Gramigna Anita

Subjects
emotion, training, verify, metacognition, covid-19, Education (General), L7-991, Communication. Mass media, P87-96
Abstract

This research aims to explore the reactions of students in the face of the pandemic emergency in progress, also in relation to the need and novelty of distance learning, a form in which there is no physical coexistence, in the classroom of teachers and students, and which mainly uses online tools.

Published
2022
Full Text
View/download PDF

42. SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis

Author

Martinelli, G, primary, Mancini, M, additional, De Benedittis, C, additional, Rondoni, M, additional, Papayannidis, C, additional, Manfrini, M, additional, Meggendorfer, M, additional, Calogero, R, additional, Guadagnuolo, V, additional, Fontana, M C, additional, Bavaro, L, additional, Padella, A, additional, Zago, E, additional, Pagano, L, additional, Zanotti, R, additional, Scaffidi, L, additional, Specchia, G, additional, Albano, F, additional, Merante, S, additional, Elena, C, additional, Savini, P, additional, Gangemi, D, additional, Tosi, P, additional, Ciceri, F, additional, Poletti, G, additional, Riccioni, L, additional, Morigi, F, additional, Delledonne, M, additional, Haferlach, T, additional, Cavo, M, additional, Valent, P, additional, and Soverini, S, additional

Published
2017
Full Text
View/download PDF

43. Serum Total Tryptase Level Confirms Itself as a More Reliable Marker of Mast Cells Burden in Mast Cell Leukaemia (Aleukaemic Variant)

Author

Savini, P., Rondoni, M., Poletti, G., Lanzi, A., Quercia, O., Soverini, S., De Benedittis, C., Musardo, G., Martinelli, G., and Stefanini, G. F.

Subjects
Article Subject
Abstract

Mast cell leukemia (MCL) is a very rare form of systemic mastocytosis (SM) with a short median survival of 6 months. We describe a case of a 65-year-old woman with aleukaemic variant of MCL with a very high serum total tryptase level of 2255 μg/L at diagnosis, which occurred following an episode of hypotensive shock. She fulfilled the diagnostic criteria of SM, with a bone marrow smear infiltration of 50–60% of atypical mast cells (MCs). She tested negative for the KIT D816V mutation, without any sign of organ damage (no B- or C-findings) and only few mediator-related symptoms. She was treated with antihistamine alone and then with imatinib for the appearance of anemia. She maintained stable tryptase level and a very indolent clinical course for twenty-two months; then, she suddenly progressed to acute MCL with a serum tryptase level up to 12960 μg/L. The patient died due to haemorrhagic diathesis twenty-four months after diagnosis. This clinical case maybe represents an example of the chronic form of mast cell leukemia, described as unpredictable disease, in which the serum total tryptase level has confirmed itself as a reliable marker of mast cells burden regardless of the presence of other signs or symptoms.

Published
2015
Full Text
View/download PDF

44. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

Author

Adhikari, K, Fontanil, T, Cal, S, Mendoza-Revilla, J, Fuentes-Guajardo, M, Chacon-Duque, J-C, Al-Saadi, F, Johansson, JA, Quinto-Sanchez, M, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Gonzalez-Jose, R, Headon, D, Lopez-Otin, C, Tobin, DJ, Balding, D, Ruiz-Linares, A, Adhikari, K, Fontanil, T, Cal, S, Mendoza-Revilla, J, Fuentes-Guajardo, M, Chacon-Duque, J-C, Al-Saadi, F, Johansson, JA, Quinto-Sanchez, M, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Gonzalez-Jose, R, Headon, D, Lopez-Otin, C, Tobin, DJ, Balding, D, and Ruiz-Linares, A

Abstract

We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.

Published
2016

45. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

Author

Adhikari, K, Fuentes-Guajardo, M, Quinto-Sanchez, M, Mendoza-Revilla, J, Chacon-Duque, JC, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Cheeseman, M, Rosique, J, Bedoya, G, Rothhammer, F, Headon, D, Gonzalez-Jose, R, Balding, D, Ruiz-Linares, A, Adhikari, K, Fuentes-Guajardo, M, Quinto-Sanchez, M, Mendoza-Revilla, J, Chacon-Duque, JC, Acuna-Alonzo, V, Jaramillo, C, Arias, W, Barquera Lozano, R, Macin Perez, G, Gomez-Valdes, J, Villamil-Ramirez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, CC, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, FM, Bortolini, M-C, Canizales-Quinteros, S, Cheeseman, M, Rosique, J, Bedoya, G, Rothhammer, F, Headon, D, Gonzalez-Jose, R, Balding, D, and Ruiz-Linares, A

Abstract

We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(-8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.

Published
2016

46. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

Author

Mallick, S, Li, H, Lipson, M, Mathieson, I, Gymrek, M, Racimo, F, Zhao, M, Chennagiri, N, Nordenfelt, S, Tandon, A, Skoglund, P, Lazaridis, I, Sankararaman, S, Fu, Q, Rohland, N, Renaud, G, Erlich, Y, Willems, T, Gallo, C, Spence, JP, Song, YS, Poletti, G, Balloux, F, van Driem, G, de Knijff, P, Romero, IG, Jha, AR, Behar, DM, Bravi, CM, Capelli, C, Hervig, T, Moreno-Estrada, A, Posukh, OL, Balanovska, E, Balanovsky, O, Karachanak-Yankova, S, Sahakyan, H, Toncheva, D, Yepiskoposyan, L, Tyler-Smith, C, Xue, Y, Abdullah, MS, Ruiz-Linares, A, Beall, CM, Di Rienzo, A, Jeong, C, Starikovskaya, EB, Metspalu, E, Parik, J, Villems, R, Henn, BM, Hodoglugil, U, Mahley, R, Sajantila, A, Stamatoyannopoulos, G, Wee, JTS, Khusainova, R, Khusnutdinova, E, Litvinov, S, Ayodo, G, Comas, D, Hammer, MF, Kivisild, T, Klitz, W, Winkler, CA, Labuda, D, Bamshad, M, Jorde, LB, Tishkoff, SA, Watkins, WS, Metspalu, M, Dryomov, S, Sukernik, R, Singh, L, Thangaraj, K, Paeaebo, S, Kelso, J, Patterson, N, Reich, D, Mallick, S, Li, H, Lipson, M, Mathieson, I, Gymrek, M, Racimo, F, Zhao, M, Chennagiri, N, Nordenfelt, S, Tandon, A, Skoglund, P, Lazaridis, I, Sankararaman, S, Fu, Q, Rohland, N, Renaud, G, Erlich, Y, Willems, T, Gallo, C, Spence, JP, Song, YS, Poletti, G, Balloux, F, van Driem, G, de Knijff, P, Romero, IG, Jha, AR, Behar, DM, Bravi, CM, Capelli, C, Hervig, T, Moreno-Estrada, A, Posukh, OL, Balanovska, E, Balanovsky, O, Karachanak-Yankova, S, Sahakyan, H, Toncheva, D, Yepiskoposyan, L, Tyler-Smith, C, Xue, Y, Abdullah, MS, Ruiz-Linares, A, Beall, CM, Di Rienzo, A, Jeong, C, Starikovskaya, EB, Metspalu, E, Parik, J, Villems, R, Henn, BM, Hodoglugil, U, Mahley, R, Sajantila, A, Stamatoyannopoulos, G, Wee, JTS, Khusainova, R, Khusnutdinova, E, Litvinov, S, Ayodo, G, Comas, D, Hammer, MF, Kivisild, T, Klitz, W, Winkler, CA, Labuda, D, Bamshad, M, Jorde, LB, Tishkoff, SA, Watkins, WS, Metspalu, M, Dryomov, S, Sukernik, R, Singh, L, Thangaraj, K, Paeaebo, S, Kelso, J, Patterson, N, and Reich, D

Abstract

Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.

Published
2016

48. Rappresentare l'ontologia: l'ambiente tecnologico

Author

Garavaglia, A, Poletti, G, Rivoltella, PC, Garavaglia, A, and Poletti, G

Subjects
ontologie, conoscenza, rappresentazione, interfacce, comunicazione, apprendimento, M-PED/03 - DIDATTICA E PEDAGOGIA SPECIALE
Abstract

Il rapporto tra ontologia e tecnologia trova le sue radici nell'etimologia dei due termini, di derivazione greca, cioè discorso sull'essere e discorso sull'arte. Entrambi si occupano di trovare metodi di rappresentazione di saperi che si instanzino in un saper fare, così come a livello informatico si declina in una rappresentazione formale della conoscenza. Nel contributo si approfondisce il tema della interfacce cognitive e della rappresentazione del sapere attraverso l'analisi degli esiti della sperimentazione di due ambienti on line dedicati alla gestione e rappresentazione di ontologie web

Published
2010

50. Indagine sulla pratica sportiva e le abitudini motorie dei bambini della scuola primaria del territorio dell'Azienda USL di Bologna in relazione ad alcune variabili individuali e ambientali

Author

LEONI, ERICA, BALDI, ELENA, SACCHETTI, ROSSELLA, BIANCO, LAURETTA, VENTURA, FERNANDA ANNA MARIA, Beltrami P., Poletti G., Garulli A., Masotti A., Pandolfi P., Guberti E., Leoni E., Beltrami P., Poletti G., Baldi E., Sacchetti R., Garulli A., Masotti A., Bianco L., Ventura F.A.M., Pandolfi P., and Guberti E.

Published
2008

Catalog

Books, media, physical & digital resources
See catalog results