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5 results on '"Marazita, M.L. (Mary)"'

1. 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
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2. Facial recognition from DNA using face-to-DNA classifiers

Author

Sero, D. (Dzemila), Zaidi, A. (Arslan), Li, J. (Jiarui), White, J.D. (Julie), González Zarzar, T.B.G. (Tomás), Marazita, M.L. (Mary), Weinberg, S.M. (Seth), Suetens, P. (Paul), Vandermeulen, D. (Dirk), Wagner, J.K. (Jennifer), Shriver, M.D. (Mark), Claes, P. (Peter), Sero, D. (Dzemila), Zaidi, A. (Arslan), Li, J. (Jiarui), White, J.D. (Julie), González Zarzar, T.B.G. (Tomás), Marazita, M.L. (Mary), Weinberg, S.M. (Seth), Suetens, P. (Paul), Vandermeulen, D. (Dirk), Wagner, J.K. (Jennifer), Shriver, M.D. (Mark), and Claes, P. (Peter)

Abstract

Facial recognition from DNA refers to the identification or verification of unidentified biological material against facial images with known identity. One approach to establish the identity of unidentified biological material is to predict the face from DNA, and subsequently to match against facial images. However, DNA phenotyping of the human face remains challenging. Here, another proof of concept to biometric authentication is established by using multiple face-to-DNA classifiers, each classifying given faces by a DNA-encoded aspect (sex, genomic background, individual genetic loci), or by a DNA-inferred aspect (BMI, age). Face-to-DNA classifiers on distinct DNA aspects are fused into one matching score for any given face against DNA. In a globally diverse, and subsequently in a homogeneous cohort, we demonstrate preliminary, but substantial true (83%, 80%) over false (17%, 20%) matching in verification mode. Consequences of future efforts include forensic applications, necessitating careful consideration of ethical and legal implications for privacy in genomic databases.

Published
2019
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3. Facial recognition from DNA using face-to-DNA classifiers

Author

Sero, D. (Dzemila), Zaidi, A. (Arslan), Li, J. (Jiarui), White, J.D. (Julie), González Zarzar, T.B.G. (Tomás), Marazita, M.L. (Mary), Weinberg, S.M. (Seth), Suetens, P. (Paul), Vandermeulen, D. (Dirk), Wagner, J.K. (Jennifer), Shriver, M.D. (Mark), Claes, P. (Peter), Sero, D. (Dzemila), Zaidi, A. (Arslan), Li, J. (Jiarui), White, J.D. (Julie), González Zarzar, T.B.G. (Tomás), Marazita, M.L. (Mary), Weinberg, S.M. (Seth), Suetens, P. (Paul), Vandermeulen, D. (Dirk), Wagner, J.K. (Jennifer), Shriver, M.D. (Mark), and Claes, P. (Peter)

Abstract

Facial recognition from DNA refers to the identification or verification of unidentified biological material against facial images with known identity. One approach to establish the identity of unidentified biological material is to predict the face from DNA, and subsequently to match against facial images. However, DNA phenotyping of the human face remains challenging. Here, another proof of concept to biometric authentication is established by using multiple face-to-DNA classifiers, each classifying given faces by a DNA-encoded aspect (sex, genomic background, individual genetic loci), or by a DNA-inferred aspect (BMI, age). Face-to-DNA classifiers on distinct DNA aspects are fused into one matching score for any given face against DNA. In a globally diverse, and subsequently in a homogeneous cohort, we demonstrate preliminary, but substantial true (83%, 80%) over false (17%, 20%) matching in verification mode. Consequences of future efforts include forensic applications, necessitating careful consideration of ethical and legal implications for privacy in genomic databases.

Published
2019
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4. Consortium-based genome-wide meta-analysis for childhood dental caries traits

Author

Haworth, S. (Simon), Shungin, D. (Dmitry), Tas, J.T. (Justin) van der, Vučić, S. (Strahinja), Medina-Gomez, M.C. (Carolina), Yakimov, V. (Victor), Feenstra, B. (Bjarke), Shaffer, J.R. (John R), Lee, M.K. (Myoung Keun), Standl, M. (Marie), Thiering, E. (Elisabeth), Wang, C. (Carol), Bønnelykke, K. (Klaus), Waage, J. (Johannes), Jessen, L.E. (Leon E.), Nørrisgaard, P.E. (Pia Elisabeth), Joro, R. (Raimo), Seppälä, I. (Ilkka), Raitakari, O. (Olli), Dudding, T. (Tom), Grgic, O. (Olja), Ongkosuwito, E.M. (Edwin), Vierola, A. (Anu), Eloranta, A.M. (Aino-Maija), West, N.X. (Nicola X.), Thomas, S.J. (Steven J.), McNeil, D.W. (Daniel W.), Levy, S.M. (Steven), Slayton, R. (Rebecca), Nohr, C. (Christian), Lehtimäki, T. (Terho), Lakka, T.A. (Timo), Bisgaard, H. (Hans), Pennell, C.E. (Craig), Kühnisch, J. (Jan), Marazita, M.L. (Mary), Melbye, M. (Mads), Geller, F. (Frank), Rivadeneira Ramirez, F. (Fernando), Wolvius, E.B. (Eppo), Franks, P.W. (Paul), Johansson, I. (Inger), Timpson, N.J. (Nicholas), Haworth, S. (Simon), Shungin, D. (Dmitry), Tas, J.T. (Justin) van der, Vučić, S. (Strahinja), Medina-Gomez, M.C. (Carolina), Yakimov, V. (Victor), Feenstra, B. (Bjarke), Shaffer, J.R. (John R), Lee, M.K. (Myoung Keun), Standl, M. (Marie), Thiering, E. (Elisabeth), Wang, C. (Carol), Bønnelykke, K. (Klaus), Waage, J. (Johannes), Jessen, L.E. (Leon E.), Nørrisgaard, P.E. (Pia Elisabeth), Joro, R. (Raimo), Seppälä, I. (Ilkka), Raitakari, O. (Olli), Dudding, T. (Tom), Grgic, O. (Olja), Ongkosuwito, E.M. (Edwin), Vierola, A. (Anu), Eloranta, A.M. (Aino-Maija), West, N.X. (Nicola X.), Thomas, S.J. (Steven J.), McNeil, D.W. (Daniel W.), Levy, S.M. (Steven), Slayton, R. (Rebecca), Nohr, C. (Christian), Lehtimäki, T. (Terho), Lakka, T.A. (Timo), Bisgaard, H. (Hans), Pennell, C.E. (Craig), Kühnisch, J. (Jan), Marazita, M.L. (Mary), Melbye, M. (Mads), Geller, F. (Frank), Rivadeneira Ramirez, F. (Fernando), Wolvius, E.B. (Eppo), Franks, P.W. (Paul), Johansson, I. (Inger), and Timpson, N.J. (Nicholas)

Abstract

Prior studies suggest dental caries traits in children and adolescents are partially heritable, but there has been no large-scale consortium genome-wide association study (GWAS) to date. We therefore performed GWAS for caries in participants aged 2.5-18.0 years from nine contributing centres. Phenotype definitions were c

Published
2018
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5. Rare and Common Variants Conferring Risk of Tooth Agenesis

Author

Jonsson, L. (L.), Magnusson, T.E. (T. E.), Thordarson, A. (A.), Jonsson, T. (Thorvaldur), Geller, F. (Frank), Feenstra, B. (Bjarke), Melbye, M. (Mads), Nohr, C. (Christian), Vučić, S. (Strahinja), Dhamo, B. (Brunilda), Rivadeneira, F. (F.), Ongkosuwito, E.M. (Edwin), Wolvius, E.B. (Eppo), Leslie, E.J. (Elizabeth J.), Marazita, M.L. (Mary), Howe, B.J. (B. J.), Moreno Uribe, L.M. (L. M.), Alonso, I. (I.), Santos, M. (M.), Pinho, T. (T.), Jonsson, R. (R.), Audolfsson, G. (G.), Gudmundsson, L. (Larus), Nawaz, M.S. (M. S.), Olafsson, S. (S.), Gustafsson, O. (Omar), Ingason, A. (A.), Unnsteinsdottir, U. (U.), Bjornsdottir, G. (G.), Walters, G.B. (Bragi), Zervas, M. (M.), Oddsson, A. (A.), Gudbjartsson, D.F. (Daniel), Steinberg, S. (Stacy), Stefansson, H. (Hreinn), Stefansson, K. (K.), Jonsson, L. (L.), Magnusson, T.E. (T. E.), Thordarson, A. (A.), Jonsson, T. (Thorvaldur), Geller, F. (Frank), Feenstra, B. (Bjarke), Melbye, M. (Mads), Nohr, C. (Christian), Vučić, S. (Strahinja), Dhamo, B. (Brunilda), Rivadeneira, F. (F.), Ongkosuwito, E.M. (Edwin), Wolvius, E.B. (Eppo), Leslie, E.J. (Elizabeth J.), Marazita, M.L. (Mary), Howe, B.J. (B. J.), Moreno Uribe, L.M. (L. M.), Alonso, I. (I.), Santos, M. (M.), Pinho, T. (T.), Jonsson, R. (R.), Audolfsson, G. (G.), Gudmundsson, L. (Larus), Nawaz, M.S. (M. S.), Olafsson, S. (S.), Gustafsson, O. (Omar), Ingason, A. (A.), Unnsteinsdottir, U. (U.), Bjornsdottir, G. (G.), Walters, G.B. (Bragi), Zervas, M. (M.), Oddsson, A. (A.), Gudbjartsson, D.F. (Daniel), Steinberg, S. (Stacy), Stefansson, H. (Hreinn), and Stefansson, K. (K.)

Abstract

We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.

Published
2018
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