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Your search keyword '"Mattila, Petri S"' showing total 16 results
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16 results on '"Mattila, Petri S"'

1. The role of CDHR3 in susceptibility to otitis media

Author

Hirsch, Scott D., Elling, Christina L., Bootpetch, Tori C., Scholes, Melissa A., Hafrén, Lena, Streubel, Sven-Olrik, Pine, Harold S., Wine, Todd M., Szeremeta, Wasyl, Prager, Jeremy D., Einarsdottir, Elisabet, Yousaf, Ayesha, Baschal, Erin E., Rehman, Sakina, Bamshad, Michael J., Nickerson, Deborah A., Riazuddin, Saima, Leal, Suzanne M., Ahmed, Zubair M., Yoon, Patricia J., Kere, Juha, Chan, Kenny H., Mattila, Petri S., Friedman, Norman R., Chonmaitree, Tasnee, Frank, Daniel N., Ryan, Allen F., and Santos-Cortez, Regie Lyn P.

Published
2021
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5. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants

Author

Frank, Daniel N., primary, Giese, Arnaud P. J., additional, Hafren, Lena, additional, Bootpetch, Tori C., additional, Yarza, Talitha Karisse L., additional, Steritz, Matthew J., additional, Pedro, Melquiadesa, additional, Labra, Patrick John, additional, Daly, Kathleen A., additional, Tantoco, Ma. Leah C., additional, Szeremeta, Wasyl, additional, Reyes-Quintos, Maria Rina T., additional, Ahankoob, Niaz, additional, Llanes, Erasmo Gonzalo d.V., additional, Pine, Harold S., additional, Yousaf, Sairah, additional, Ir, Diana, additional, Einarsdottir, Elisabet, additional, de la Cruz, Rhodieleen Anne R., additional, Lee, Nanette R., additional, Nonato, Rachelle Marie A., additional, Robertson, Charles E., additional, Ong, Kimberly Mae C., additional, Magno, Jose Pedrito M., additional, Chiong, Alessandra Nadine E., additional, Espiritu-Chiong, Ma. Carmina, additional, San Agustin, Maria Luz, additional, Cruz, Teresa Luisa G., additional, Abes, Generoso T., additional, Bamshad, Michael J., additional, Cutiongco-de la Paz, Eva Maria, additional, Kere, Juha, additional, Nickerson, Deborah A., additional, Mohlke, Karen L., additional, Riazuddin, Saima, additional, Chan, Abner, additional, Mattila, Petri S., additional, Leal, Suzanne M., additional, Ryan, Allen F., additional, Ahmed, Zubair M., additional, Chonmaitree, Tasnee, additional, Sale, Michele M., additional, Chiong, Charlotte M., additional, and Santos-Cortez, Regie Lyn P., additional

Published
2020
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7. In situ hybridization for high-risk HPV E6/E7 mRNA is a superior method for detecting transcriptionally active HPV in oropharyngeal cancer

Author

Randén-Brady, Reija, primary, Carpén, Timo, additional, Jouhi, Lauri, additional, Syrjänen, Stina, additional, Haglund, Caj, additional, Tarkkanen, Jussi, additional, Remes, Satu, additional, Mäkitie, Antti, additional, Mattila, Petri S, additional, Silén, Suvi, additional, and Hagström, Jaana, additional

Published
2019
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8. A2ML1and otitis media: novel variants, differential expression, and relevant pathways

Author

Larson, Eric D., primary, Magno, Jose Pedrito M., additional, Steritz, Matthew J., additional, Llanes, Erasmo Gonzalo d.V., additional, Cardwell, Jonathan, additional, Pedro, Melquiadesa, additional, Roberts, Tori Bootpetch, additional, Einarsdottir, Elisabet, additional, Rosanes, Rose Anne Q., additional, Greenlee, Christopher, additional, Santos, Rachel Ann P., additional, Yousaf, Ayesha, additional, Streubel, Sven‐Olrik, additional, Santos, Aileen Trinidad R., additional, Ruiz, Amanda G., additional, Lagrana‐Villagracia, Sheryl Mae, additional, Ray, Dylan, additional, Yarza, Talitha Karisse L., additional, Scholes, Melissa A., additional, Anderson, Catherine B., additional, Acharya, Anushree, additional,  , University of Washington Center for, additional, Gubbels, Samuel P., additional, Bamshad, Michael J., additional, Cass, Stephen P., additional, Lee, Nanette R., additional, Shaikh, Rehan S., additional, Nickerson, Deborah A., additional, Mohlke, Karen L., additional, Prager, Jeremy D., additional, Cruz, Teresa Luisa G., additional, Yoon, Patricia J., additional, Abes, Generoso T., additional, Schwartz, David A., additional, Chan, Abner L., additional, Wine, Todd M., additional, Cutiongco‐de la Paz, Eva Maria, additional, Friedman, Norman, additional, Kechris, Katerina, additional, Kere, Juha, additional, Leal, Suzanne M., additional, Yang, Ivana V., additional, Patel, Janak A., additional, Tantoco, Ma. Leah C., additional, Riazuddin, Saima, additional, Chan, Kenny H., additional, Mattila, Petri S., additional, Reyes‐Quintos, Maria Rina T., additional, Ahmed, Zubair M., additional, Jenkins, Herman A., additional, Chonmaitree, Tasnee, additional, Hafrén, Lena, additional, Chiong, Charlotte M., additional, and Santos‐Cortez, Regie Lyn P., additional

Published
2019
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11. Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5variants

Author

Frank, Daniel N., Giese, Arnaud P. J., Hafren, Lena, Bootpetch, Tori C., Yarza, Talitha Karisse L., Steritz, Matthew J., Pedro, Melquiadesa, Labra, Patrick John, Daly, Kathleen A., Tantoco, Ma. Leah C., Szeremeta, Wasyl, Reyes-Quintos, Maria Rina T., Ahankoob, Niaz, Llanes, Erasmo Gonzalo d.V., Pine, Harold S., Yousaf, Sairah, Ir, Diana, Einarsdottir, Elisabet, de la Cruz, Rhodieleen Anne R., Lee, Nanette R., Nonato, Rachelle Marie A., Robertson, Charles E., Ong, Kimberly Mae C., Magno, Jose Pedrito M., Chiong, Alessandra Nadine E., Espiritu-Chiong, Ma. Carmina, San Agustin, Maria Luz, Cruz, Teresa Luisa G., Abes, Generoso T., Bamshad, Michael J., Cutiongco-de la Paz, Eva Maria, Kere, Juha, Nickerson, Deborah A., Mohlke, Karen L., Riazuddin, Saima, Chan, Abner, Mattila, Petri S., Leal, Suzanne M., Ryan, Allen F., Ahmed, Zubair M., Chonmaitree, Tasnee, Sale, Michele M., Chiong, Charlotte M., and Santos-Cortez, Regie Lyn P.

Abstract

BackgroundOtitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility.MethodsWe performed exome and Sanger sequencing of >1000 DNA samples from 551 multiethnic families with OM and unrelated individuals, RNA-sequencing and microbiome sequencing and analyses of swabs from the outer ear, middle ear, nasopharynx and oral cavity. We also examined protein localisation and gene expression in infected and healthy middle ear tissues.ResultsA large, intermarried pedigree that includes 81 OM-affected and 53 unaffected individuals cosegregates two known rare A2ML1variants, a common FUT2variant and a rare, novel pathogenic variant c.1682A>G (p.Glu561Gly) within SPINK5(LOD=4.09). Carriage of the SPINK5missense variant resulted in increased relative abundance of Microbacteriaceae in the middle ear, along with occurrence of Microbacteriaceae in the outer ear and oral cavity but not the nasopharynx. Eight additional novel SPINK5variants were identified in 12 families and individuals with OM. A role for SPINK5in OM susceptibility is further supported by lower RNA counts in variant carriers, strong SPINK5 localisation in outer ear skin, faint localisation to middle ear mucosa and eardrum and increased SPINK5expression in human cholesteatoma.ConclusionSPINK5variants confer susceptibility to non-syndromic OM. These variants potentially contribute to middle ear pathology through breakdown of mucosal and epithelial barriers, immunodeficiency such as poor vaccination response, alteration of head and neck microbiota and facilitation of entry of opportunistic pathogens into the middle ear.

Published
2021
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14. Predisposition to Childhood Otitis Media and Genetic Polymorphisms within the Toll-Like Receptor 4 (TLR4) Locus

Author

Hafrén, Lena, primary, Einarsdottir, Elisabet, additional, Kentala, Erna, additional, Hammarén-Malmi, Sari, additional, Bhutta, Mahmood F., additional, MacArthur, Carol J., additional, Wilmot, Beth, additional, Casselbrant, Margaretha, additional, Conley, Yvette P., additional, Weeks, Daniel E., additional, Mandel, Ellen M., additional, Vaarala, Outi, additional, Kallio, Anna, additional, Melin, Merit, additional, Nieminen, Janne K., additional, Leinonen, Eira, additional, Kere, Juha, additional, and Mattila, Petri S., additional

Published
2015
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15. Multi-omic studies on missense PLG variants in families with otitis media.

Author

Bootpetch TC, Hafrén L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A, Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel SO, Friedman NR, Frank DN, Einarsdottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Sale MM, Chonmaitree T, and Santos-Cortez RLP

Subjects
Animals, Ear, Middle metabolism, Ear, Middle microbiology, Female, Genomics methods, Humans, Male, Mice, Microbiota, Otitis Media microbiology, Otitis Media pathology, Pedigree, Plasminogen metabolism, Polymorphism, Single Nucleotide, Saliva metabolism, Mutation, Missense, Otitis Media genetics, Plasminogen genetics
Abstract

Otitis media (OM), a very common disease in young children, can result in hearing loss. In order to potentially replicate previously reported associations between OM and PLG, exome and Sanger sequencing, RNA-sequencing of saliva and middle ear samples, 16S rRNA sequencing, molecular modeling, and statistical analyses including transmission disequilibrium tests (TDT) were performed in a multi-ethnic cohort of 718 families and simplex cases with OM. We identified four rare PLG variants c.112A > G (p.Lys38Glu), c.782G > A (p.Arg261His), c.1481C > T (p.Ala494Val) and c.2045 T > A (p.Ile682Asn), and one common variant c.1414G > A (p.Asp472Asn). However TDT analyses for these PLG variants did not demonstrate association with OM in 314 families. Additionally PLG expression is very low or absent in normal or diseased middle ear in mouse and human, and salivary expression and microbial α-diversity were non-significant in c.1414G > A (p.Asp472Asn) carriers. Based on molecular modeling, the novel rare variants particularly c.782G > A (p.Arg261His) and c.2045 T > A (p.Ile682Asn) were predicted to affect protein structure. Exploration of other potential disease mechanisms will help elucidate how PLG contributes to OM susceptibility in humans. Our results underline the importance of following up findings from genome-wide association through replication studies, preferably using multi-omic datasets.

Published
2020
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16. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Author

Larson ED, Magno JPM, Steritz MJ, Llanes EGDV, Cardwell J, Pedro M, Roberts TB, Einarsdottir E, Rosanes RAQ, Greenlee C, Santos RAP, Yousaf A, Streubel SO, Santos ATR, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TKL, Scholes MA, Anderson CB, Acharya A, Gubbels SP, Bamshad MJ, Cass SP, Lee NR, Shaikh RS, Nickerson DA, Mohlke KL, Prager JD, Cruz TLG, Yoon PJ, Abes GT, Schwartz DA, Chan AL, Wine TM, Cutiongco-de la Paz EM, Friedman N, Kechris K, Kere J, Leal SM, Yang IV, Patel JA, Tantoco MLC, Riazuddin S, Chan KH, Mattila PS, Reyes-Quintos MRT, Ahmed ZM, Jenkins HA, Chonmaitree T, Hafrén L, Chiong CM, and Santos-Cortez RLP

Subjects
Adolescent, Adult, Child, Child, Preschool, Female, Finland, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Infant, Male, Middle Aged, Pakistan, Pedigree, Philippines, Sequence Analysis, RNA, Signal Transduction, United States, Young Adult, Down-Regulation, Gene Expression Profiling methods, Mutation, Otitis Media genetics, Sequence Analysis, DNA methods, alpha-Macroglobulins genetics
Abstract

A genetic basis for otitis media is established, however, the role of rare variants in disease etiology is largely unknown. Previously a duplication variant within A2ML1 was identified as a significant risk factor for otitis media in an indigenous Filipino population and in US children. In this report exome and Sanger sequencing was performed using DNA samples from the indigenous Filipino population, Filipino cochlear implantees, US probands, Finnish, and Pakistani families with otitis media. Sixteen novel, damaging A2ML1 variants identified in otitis media patients were rare or low-frequency in population-matched controls. In the indigenous population, both gingivitis and A2ML1 variants including the known duplication variant and the novel splice variant c.4061 + 1 G>C were independently associated with otitis media. Sequencing of salivary RNA samples from indigenous Filipinos demonstrated lower A2ML1 expression according to the carriage of A2ML1 variants. Sequencing of additional salivary RNA samples from US patients with otitis media revealed differentially expressed genes that are highly correlated with A2ML1 expression levels. In particular, RND3 is upregulated in both A2ML1 variant carriers and high-A2ML1 expressors. These findings support a role for A2ML1 in keratinocyte differentiation within the middle ear as part of otitis media pathology and the potential application of ROCK inhibition in otitis media., (© 2019 Wiley Periodicals, Inc.)

Published
2019
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