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7. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

Author

Bailey-Wilson, Joan E., Baird, Paul N., Barathi, Veluchamy A., Biino, Ginevra, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Haarman, Annechien E.G., Haller, Toomas, Hammond, Christopher J., Han, Xikun, Hayward, Caroline, He, Mingguang, Hewitt, Alex W., Hoang, Quan, Hysi, Pirro G., Iglesias, Adriana I., Igo, Robert P., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Khawaja, Anthony P., Klein, Barbara E., Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana, Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mackey, David A., Martin, Nicholas G., Meguro, Akira, Metspalu, Andres, Middlebrooks, Candace, Miyake, Masahiro, Mizuki, Nobuhisa, Musolf, Anthony, Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Pärssinen, Olavi, Paterson, Andrew D., Pfeiffer, Norbert, Polasek, Ozren, Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Sahebjada, Srujana, Saw, Seang-Mei, Simpson, Claire L., Stambolian, Dwight, Tai, E-Shyong, Tedja, Milly S., Tideman, J. Willem L., Tsujikawa, Akitaka, van Duijn, Cornelia M., Verhoeven, Virginie J.M., Vitart, Veronique, Wang, Ningli, Wang, Ya Xing, Wedenoja, Juho, Wei, Wen Bin, Williams, Cathy, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Yam, Jason C.S., Yamashiro, Kenji, Yap, Maurice K.H., Yazar, Seyhan, Yip, Shea Ping, Young, Terri L., Zhou, Xiangtian, Allen, Naomi, Aslam, Tariq, Atan, Denize, Barman, Sarah, Barrett, Jenny, Bishop, Paul, Black, Graeme, Bunce, Catey, Carare, Roxana, Chakravarthy, Usha, Chan, Michelle, Chua, Sharon, Cipriani, Valentina, Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew, Doney, Alexander, Egan, Cathy, Ennis, Sarah, Foster, Paul, Fruttiger, Marcus, Gallacher, John, Garway-Heath, David, Gibson, Jane, Gore, Dan, Guggenheim, Jeremy, Hammond, Chris, Hardcastle, Alison, Harding, Simon, Hogg, Ruth, Hysi, Pirro, Keane, Pearse A., Khaw, Peng Tee, Khawaja, Anthony, Lascaratos, Gerassimos, Littlejohns, Thomas, Lotery, Andrew, Luthert, Phil, MacGillivray, Tom, Mackie, Sarah, McGuinness, Bernadette, McKay, Gareth, McKibbin, Martin, Mitry, Danny, Moore, Tony, Morgan, James, Muthy, Zaynah, O'Sullivan, Eoin, Owen, Chris, Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Pontikos, Nikolas, Rahi, Jugnoo, Rudnicka, Alicja, Self, Jay, Sergouniotis, Panagiotis, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Tapp, Robyn, Thaung, Caroline, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Vernon, Stephen, Viswanathan, Ananth, Williams, Katie, Woodside, Jayne, Yates, Max, Yip, Jennifer, Zheng, Yalin, Clark, Rosie, Lee, Samantha Sze-Yee, Du, Ran, Wang, Yining, Kneepkens, Sander C.M., Charng, Jason, Huang, Yu, Hunter, Michael L., Jiang, Chen, Tideman, J.Willem L., Melles, Ronald B., Klaver, Caroline C.W., Choquet, Hélène, and Ohno-Matsui, Kyoko

Published
2023
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10. Dry Eye Treatment with Intense Pulsed Light for Improving Visual Outcomes After Cataract Surgery with Diffractive Trifocal Intraocular Lens Implantation.

Author

Teshigawara, Takeshi, Akaishi, Miki, Mizuki, Yuki, Takeuchi, Masaki, Yabuki, Kazuro, Hata, Seiichiro, Meguro, Akira, and Mizuki, Nobuhisa

Abstract

Background/Objectives: Meibomian gland dysfunction (MGD)-related dry eye aggravates postoperative visual outcomes in cataracts. Diffractive trifocal intraocular lenses (IOLs) decrease contrast sensitivity (CS). Intense pulsed light (IPL) improves tear film stability and ocular surface conditions in MGD-related dry eyes. We investigated the effect of preoperative MGD-related dry eye treatment combining manual meibomian gland expression (MGX) with IPL (IPL-MGX) on visual outcomes post-cataract surgery with diffractive trifocal IOL implantation. Methods: In this single-center, prospective, and open-label study, we enrolled 67 patients (134 eyes) with MGD-related dry eye undergoing cataract surgery on both eyes. Preoperatively, IPL-MGX was performed on one eye (IPL-MGX group) but not the contralateral eye (control group). Tear break-up time, high-order aberrations, and central superficial punctate keratopathy (C-SPK) were assessed. CS and corrected distance visual acuity were analyzed. Differences between groups were analyzed at 1 week, 1 month, and 3 months postoperatively. Results: The IPL-MGX group showed greater mean tear break-up time and lower mean high-order aberration and C-SPK values after preoperative IPL treatment and postoperatively (all p < 0.01). Postoperative CS was higher in the IPL-MGX group at 1 week (all spatial frequencies) (p < 0.01 [cpd = 2.9, 4.5, 7.1, and 10.2] and p < 0.05 [cpd = 1.1 and 1.8]); 1 month [2.9–10.2 cpd] (p < 0.01); and 3 months [4.5–10.2 cpd] (p < 0.01 [cpd = 10.2] and p < 0.05 [cpd = 4.5 and 7.1]) postoperatively. Mean corrected distance visual acuity was higher in the IPL-MGX group only postoperatively (p < 0.01). Conclusions: Preoperative MGD-related dry eye treatment using IPL-MGX enhances tear film stability, ocular surface conditions, and visual outcomes, potentially improving postoperative vision quality and patient satisfaction. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Association of high disease activity and serum IL-6 levels with the incidence of inflammatory major organ events in Behçet disease: a prospective registry study

Author

Hirahara, Lisa, primary, Kirino, Yohei, additional, Soejima, Yutaro, additional, Iizuka, Yuki, additional, Yoshimi, Ryusuke, additional, Fujieda, Yuichiro, additional, Atsumi, Tatsuya, additional, Tono, Toshihiro, additional, Kobayashi, Daisuke, additional, Meguro, Akira, additional, Takeuchi, Masaki, additional, Sakamaki, Kentaro, additional, Takeno, Mitsuhiro, additional, Mizuki, Nobuhisa, additional, and Nakajima, Hideaki, additional

Published
2024
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15. HLA‐DQA1*01:03 and DQB1*06:01 are risk factors for severe COVID‐19 pneumonia.

Author

Tanaka, Katsushi, Meguro, Akira, Hara, Yu, Endo, Lisa, Izawa, Ami, Muraoka, Suguru, Kaneko, Ayami, Somekawa, Kohei, Hirata, Momo, Otsu, Yukiko, Matsumoto, Hiromi, Nagasawa, Ryo, Kubo, Sosuke, Murohashi, Kota, Aoki, Ayako, Fujii, Hiroaki, Watanabe, Keisuke, Horita, Nobuyuki, Kato, Hideaki, and Kobayashi, Nobuaki

Subjects
*HAPLOTYPES, *JAPANESE people, *SARS-CoV-2 Omicron variant, *LINKAGE disequilibrium, *RESPIRATORY insufficiency
Abstract

The clinical spectrum of COVID‐19 includes a wide range of manifestations, from mild symptoms to severe pneumonia. HLA system plays a pivotal role in immune responses to infectious diseases. The purpose of our study was to investigate the association between HLA and COVID‐19 severity in a Japanese population. The study included 209 Japanese COVID‐19 patients aged ≥20 years. Saliva samples were collected and used to determine the HLA genotype by HLA imputation through genome‐wide association analyses. The association between HLA genotype and COVID‐19 severity was then evaluated. The allele frequency was compared between patients with respiratory failure (severe group: 91 cases) and those without respiratory failure (non‐severe group: 118 cases), categorising the data into three time periods: pre‐Omicron epidemic period, Omicron epidemic period, and total period of this study (from January 2021 to May 2023). In comparing the severe and non‐severe groups, the frequencies of the HLA‐DQA1*01:03 (35.1% vs. 10.5%, odds ratio [OR] = 4.57, corrected p [pc] = 0.041) and ‐DQB1*06:01 (32.4% vs. 7.9%, OR = 5.54, pc = 0.030) alleles were significantly higher in the severe group during the pre‐Omicron epidemic period. During the Omicron epidemic period, HLA‐DQB1*06 (32.4% vs. 7.9%, OR = 5.54, pc = 0.030) was significantly higher in the severe group. During total period of this study, HLA‐DQA1*01:03 (30.2% vs. 14.4%, OR = 2.57, corrected pc = 0.0013) and ‐DQB1*06:01 (44.5% vs. 26.7%, OR = 2.20, pc = 0.013) alleles were significantly higher in the severe group. HLA‐DQB1*06:01 and ‐DQA1*01:03 were in strong linkage disequilibrium with each other (r2 = 0.91) during total period of this study, indicating that these two alleles form a haplotype. The frequency of the HLA‐DQA1*01:03–DQB1*06:01 in the severe group was significantly higher than in the non‐severe group during pre‐Omicron epidemic period (32.4% vs. 7.9%, OR = 5.59, pc = 0.00072), and total period of this study (28.6% vs. 13.1%, OR = 2.63, pc = 0.0013). During Omicron epidemic period, the haplotype did not demonstrate statistical significance, although the odds ratio indicated a value greater 1. Frequencies of the HLA‐DQA1*01:03 and ‐DQB1*06:01 alleles were significantly higher in severe COVID‐19 patients, suggesting that these alleles are risk factors for severe COVID‐19 pneumonia in the Japanese population. [ABSTRACT FROM AUTHOR]

Published
2024
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16. KIR and HLA Genotypes Implicated in Reduced Killer Lymphocytes Immunity Are Associated with Vogt-Koyanagi-Harada Disease.

Author

Levinson, Ralph D, Yung, Madeline, Meguro, Akira, Ashouri, Elham, Yu, Fei, Mizuki, Nobuhisa, Ohno, Shigeaki, and Rajalingam, Raja

Subjects
Killer Cells, Natural, Chromosomes, Human, Humans, Uveomeningoencephalitic Syndrome, Genetic Predisposition to Disease, HLA-DR4 Antigen, Immunity, Cellular, Asian Continental Ancestry Group, Japan, Female, Male, Receptors, KIR, Genome-Wide Association Study, General Science & Technology
Abstract

Cytotoxic T lymphocytes (CTL) and natural killer (NK) cells are killer lymphocytes that provide defense against viral infections and tumor transformation. Analogous to that of CTL, interactions of killer-cell immunoglobulin-like receptors (KIR) with specific human leukocyte antigen (HLA) class I ligands calibrate NK cell education and response. Gene families encoding KIRs and HLA ligands are located on different chromosomes, and feature variation in the number and type of genes. The independent segregation of KIR and HLA genes results in variable KIR-HLA interactions in individuals, which may impact disease susceptibility. We tested whether KIR-HLA combinations are associated with Vogt-Koyanagi-Harada (VKH) disease, a bilateral granulomatous panuveitis that has strong association with HLA-DR4. We present a case control study of 196 VKH patients and 209 controls from a highly homogeneous native population of Japan. KIR and HLA class I genes were typed using oligonucleotide hybridization method and analyzed using two-tailed Fisher's exact probabilities. The incidence of Bx-KIR genotypes was decreased in VKH patients (odds ratio [OR] 0.58, P = 0.007), due primarily to a decrease in centromeric B-KIR motif and its associated KIRs 2DS2, 2DL2, 2DS3, and 2DL5B. HLA-B22, implicated in poor immune response, was increased in VKH (OR = 4.25, P = 0.0001). HLA-Bw4, the ligand for KIR3DL1, was decreased in VKH (OR = 0.59, P = 0.01). The KIR-HLA combinations 2DL2+C1/C2 and 3DL1+Bw4, which function in NK education, were also decreased in VKH (OR = 0.49, P = 0.012; OR = 0.59, P = 0.013). Genotypes missing these two inhibitory KIR-HLA combinations in addition to missing activating KIRs 2DS2 and 2DS3 were more common in VKH (OR = 1.90, P = 0.002). These results suggest that synergistic hyporesponsiveness of NK cells (due to poor NK education along with missing of activating KIRs) and CTL (due to HLA-B22 restriction) fail to mount an effective immune response against viral-infection that may trigger VKH pathogenesis in genetically susceptible individuals, such as HLA-DR4 carriers.

Published
2016

17. Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis

Author

Terao, Chikashi, Yoshifuji, Hajime, Matsumura, Takayoshi, Naruse, Taeko K., Ishii, Tomonori, Nakaoka, Yoshikazu, Kirino, Yohei, Matsuo, Keitaro, Origuchi, Tomoki, Shimizu, Masakazu, Maejima, Yasuhiro, Amiya, Eisuke, Tamura, Natsuko, Kawaguchi, Takahisa, Takahashi, Meiko, Setoh, Kazuya, Ohmura, Koichiro, Watanabe, Ryu, Horita, Tetsuya, Atsumi, Tatsuya, Matsukura, Mitsuru, Miyata, Tetsuro, Kochi, Yuta, Suda, Toshio, Tanemoto, Kazuo, Meguro, Akira, Okada, Yukinori, Ogimoto, Akiyoshi, Yamamoto, Motohisa, Takahashi, Hiroki, Nakayamada, Shingo, Saito, Kazuyoshi, Kuwana, Masataka, Mizuki, Nobuhisa, Tabara, Yasuharu, Ueda, Atsuhisa, Komuro, Issei, Kimura, Akinori, Isobe, Mitsuaki, Mimori, Tsuneyo, and Matsuda, Fumihiko

Published
2018

19. Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.

Author

Fan, Qiao, Barathi, Veluchamy, Cheng, Ching-Yu, Zhou, Xin, Meguro, Akira, Nakata, Isao, Khor, Chiea-Chuen, Goh, Liang-Kee, Li, Yi-Ju, Lim, Wane, Ho, Candice, Hawthorne, Felicia, Zheng, Yingfeng, Chua, Daniel, Inoko, Hidetoshi, Yamashiro, Kenji, Ohno-Matsui, Kyoko, Matsuo, Keitaro, Matsuda, Fumihiko, Vithana, Eranga, Mizuki, Nobuhisa, Beuerman, Roger, Tai, E-Shyong, Yoshimura, Nagahisa, Aung, Tin, Young, Terri, Wong, Tien-Yin, Teo, Yik-Ying, Saw, Seang-Mei, and Seielstad, Mark

Subjects
Adult, Animals, Carrier Proteins, Cation Transport Proteins, Child, China, Chromosomes, Human, Pair 1, Disease Models, Animal, Female, Gene Expression, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Lysophospholipase, Male, Mice, Middle Aged, Myopia, Nuclear Proteins, Polymorphism, Single Nucleotide, RNA-Binding Proteins, Retina, Retinal Pigment Epithelium, Sclera, Zinc Transporter 8
Abstract

As one of the leading causes of visual impairment and blindness, myopia poses a significant public health burden in Asia. The primary determinant of myopia is an elongated ocular axial length (AL). Here we report a meta-analysis of three genome-wide association studies on AL conducted in 1,860 Chinese adults, 929 Chinese children, and 2,155 Malay adults. We identified a genetic locus on chromosome 1q41 harboring the zinc-finger 11B pseudogene ZC3H11B showing genome-wide significant association with AL variation (rs4373767, β = -0.16 mm per minor allele, P(meta) =2.69 × 10(-10)). The minor C allele of rs4373767 was also observed to significantly associate with decreased susceptibility to high myopia (per-allele odds ratio (OR) =0.75, 95% CI: 0.68-0.84, P(meta) =4.38 × 10(-7)) in 1,118 highly myopic cases and 5,433 controls. ZC3H11B and two neighboring genes SLC30A10 and LYPLAL1 were expressed in the human neural retina, retinal pigment epithelium, and sclera. In an experimental myopia mouse model, we observed significant alterations to gene and protein expression in the retina and sclera of the unilateral induced myopic eyes for the murine genes ZC3H11A, SLC30A10, and LYPLAL1. This supports the likely role of genetic variants at chromosome 1q41 in influencing AL variation and high myopia.

Published
2012

20. Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis

Author

Meguro, Akira, Ishihara, Mami, Petrek, Martin, Yamamoto, Ken, Takeuchi, Masaki, Mrazek, Frantisek, Kolek, Vitezslav, Benicka, Alzbeta, Yamane, Takahiro, Shibuya, Etsuko, Yoshino, Atsushi, Isomoto, Akiko, Ota, Masao, Yatsu, Keisuke, Shijubo, Noriharu, Nagai, Sonoko, Yamaguchi, Etsuro, Yamaguchi, Tetsuo, Namba, Kenichi, Kaburaki, Toshikatsu, Takase, Hiroshi, Morimoto, Shin-ichiro, Hori, Junko, Kono, Keiko, Goto, Hiroshi, Suda, Takafumi, Ikushima, Soichiro, Ando, Yasutaka, Takenaka, Shinobu, Takeuchi, Masaru, Yuasa, Takenosuke, Sugisaki, Katsunori, Ohguro, Nobuyuki, Hiraoka, Miki, Kitaichi, Nobuyoshi, Sugiyama, Yukihiko, Horita, Nobuyuki, Asukata, Yuri, Kawagoe, Tatsukata, Kimura, Ikuko, Ishido, Mizuho, Inoko, Hidetoshi, Mochizuki, Manabu, Ohno, Shigeaki, Bahram, Seiamak, Remmers, Elaine F., Kastner, Daniel L., and Mizuki, Nobuhisa

Published
2020
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22. Genetics

Author

Meguro, Akira, Mizuki, Nobuhisa, and Ishigatsubo, Yoshiaki, editor

Published
2015
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23. A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

Author

Clark, Rosie, primary, Lee, Samantha Sze-Yee, additional, Du, Ran, additional, Wang, Yining, additional, Kneepkens, Sander C.M., additional, Charng, Jason, additional, Huang, Yu, additional, Hunter, Michael L., additional, Jiang, Chen, additional, Tideman, J.Willem L., additional, Melles, Ronald B., additional, Klaver, Caroline C.W., additional, Mackey, David A., additional, Williams, Cathy, additional, Choquet, Hélène, additional, Ohno-Matsui, Kyoko, additional, Guggenheim, Jeremy A., additional, Bailey-Wilson, Joan E., additional, Baird, Paul N., additional, Barathi, Veluchamy A., additional, Biino, Ginevra, additional, Burdon, Kathryn P., additional, Campbell, Harry, additional, Chen, Li Jia, additional, Cheng, Ching-Yu, additional, Chew, Emily Y., additional, Craig, Jamie E., additional, Deangelis, Margaret M., additional, Delcourt, Cécile, additional, Ding, Xiaohu, additional, Fan, Qiao, additional, Fossarello, Maurizio, additional, Foster, Paul J., additional, Gharahkhani, Puya, additional, Guo, Xiaobo, additional, Haarman, Annechien E.G., additional, Haller, Toomas, additional, Hammond, Christopher J., additional, Han, Xikun, additional, Hayward, Caroline, additional, He, Mingguang, additional, Hewitt, Alex W., additional, Hoang, Quan, additional, Hysi, Pirro G., additional, Iglesias, Adriana I., additional, Igo, Robert P., additional, Iyengar, Sudha K., additional, Jonas, Jost B., additional, Kähönen, Mika, additional, Kaprio, Jaakko, additional, Khawaja, Anthony P., additional, Klein, Barbara E., additional, Lass, Jonathan H., additional, Lee, Kris, additional, Lehtimäki, Terho, additional, Lewis, Deyana, additional, Li, Qing, additional, Li, Shi-Ming, additional, Lyytikäinen, Leo-Pekka, additional, MacGregor, Stuart, additional, Martin, Nicholas G., additional, Meguro, Akira, additional, Metspalu, Andres, additional, Middlebrooks, Candace, additional, Miyake, Masahiro, additional, Mizuki, Nobuhisa, additional, Musolf, Anthony, additional, Nickels, Stefan, additional, Oexle, Konrad, additional, Pang, Chi Pui, additional, Pärssinen, Olavi, additional, Paterson, Andrew D., additional, Pfeiffer, Norbert, additional, Polasek, Ozren, additional, Rahi, Jugnoo S., additional, Raitakari, Olli, additional, Rudan, Igor, additional, Sahebjada, Srujana, additional, Saw, Seang-Mei, additional, Simpson, Claire L., additional, Stambolian, Dwight, additional, Tai, E-Shyong, additional, Tedja, Milly S., additional, Tideman, J. Willem L., additional, Tsujikawa, Akitaka, additional, van Duijn, Cornelia M., additional, Verhoeven, Virginie J.M., additional, Vitart, Veronique, additional, Wang, Ningli, additional, Wang, Ya Xing, additional, Wedenoja, Juho, additional, Wei, Wen Bin, additional, Williams, Katie M., additional, Wilson, James F., additional, Wojciechowski, Robert, additional, Yam, Jason C.S., additional, Yamashiro, Kenji, additional, Yap, Maurice K.H., additional, Yazar, Seyhan, additional, Yip, Shea Ping, additional, Young, Terri L., additional, Zhou, Xiangtian, additional, Allen, Naomi, additional, Aslam, Tariq, additional, Atan, Denize, additional, Barman, Sarah, additional, Barrett, Jenny, additional, Bishop, Paul, additional, Black, Graeme, additional, Bunce, Catey, additional, Carare, Roxana, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Chua, Sharon, additional, Cipriani, Valentina, additional, Day, Alexander, additional, Desai, Parul, additional, Dhillon, Bal, additional, Dick, Andrew, additional, Doney, Alexander, additional, Egan, Cathy, additional, Ennis, Sarah, additional, Foster, Paul, additional, Fruttiger, Marcus, additional, Gallacher, John, additional, Garway-Heath, David, additional, Gibson, Jane, additional, Gore, Dan, additional, Guggenheim, Jeremy, additional, Hammond, Chris, additional, Hardcastle, Alison, additional, Harding, Simon, additional, Hogg, Ruth, additional, Hysi, Pirro, additional, Keane, Pearse A., additional, Khaw, Peng Tee, additional, Khawaja, Anthony, additional, Lascaratos, Gerassimos, additional, Littlejohns, Thomas, additional, Lotery, Andrew, additional, Luthert, Phil, additional, MacGillivray, Tom, additional, Mackie, Sarah, additional, McGuinness, Bernadette, additional, McKay, Gareth, additional, McKibbin, Martin, additional, Mitry, Danny, additional, Moore, Tony, additional, Morgan, James, additional, Muthy, Zaynah, additional, O'Sullivan, Eoin, additional, Owen, Chris, additional, Patel, Praveen, additional, Paterson, Euan, additional, Peto, Tunde, additional, Petzold, Axel, additional, Pontikos, Nikolas, additional, Rahi, Jugnoo, additional, Rudnicka, Alicja, additional, Self, Jay, additional, Sergouniotis, Panagiotis, additional, Sivaprasad, Sobha, additional, Steel, David, additional, Stratton, Irene, additional, Strouthidis, Nicholas, additional, Sudlow, Cathie, additional, Tapp, Robyn, additional, Thaung, Caroline, additional, Thomas, Dhanes, additional, Trucco, Emanuele, additional, Tufail, Adnan, additional, Vernon, Stephen, additional, Viswanathan, Ananth, additional, Williams, Katie, additional, Woodside, Jayne, additional, Yates, Max, additional, Yip, Jennifer, additional, and Zheng, Yalin, additional

Published
2023
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25. Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy

Author

Hosoda, Yoshikatsu, Miyake, Masahiro, Schellevis, Rosa L., Boon, Camiel J. F., Hoyng, Carel B., Miki, Akiko, Meguro, Akira, Sakurada, Yoichi, Yoneyama, Seigo, Takasago, Yukari, Hata, Masayuki, Muraoka, Yuki, Nakanishi, Hideo, Oishi, Akio, Ooto, Sotaro, Tamura, Hiroshi, Uji, Akihito, Miyata, Manabu, Takahashi, Ayako, Ueda-Arakawa, Naoko, Tajima, Atsushi, Sato, Takehiro, Mizuki, Nobuhisa, Shiragami, Chieko, Iida, Tomohiro, Khor, Chiea Chuen, Wong, Tien Yin, Yamada, Ryo, Honda, Shigeru, de Jong, Eiko K., Hollander, Anneke I. den, Matsuda, Fumihiko, Yamashiro, Kenji, and Tsujikawa, Akitaka

Published
2019
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28. A polymorphism in CCR1/CCR3 is associated with narcolepsy

Author

Toyoda, Hiromi, Miyagawa, Taku, Koike, Asako, Kanbayashi, Takashi, Imanishi, Aya, Sagawa, Yohei, Kotorii, Nozomu, Kotorii, Tatayu, Hashizume, Yuji, Ogi, Kimihiro, Hiejima, Hiroshi, Kamei, Yuichi, Hida, Akiko, Miyamoto, Masayuki, Imai, Makoto, Fujimura, Yota, Tamura, Yoshiyuki, Ikegami, Azusa, Wada, Yamato, Moriya, Shunpei, Furuya, Hirokazu, Takeuchi, Masaki, Kirino, Yohei, Meguro, Akira, Remmers, Elaine F, Kawamura, Yoshiya, Otowa, Takeshi, Miyashita, Akinori, Kashiwase, Koichi, Khor, Seik-Soon, Yamasaki, Maria, Kuwano, Ryozo, Sasaki, Tsukasa, Ishigooka, Jun, Kuroda, Kenji, Kume, Kazuhiko, Chiba, Shigeru, Yamada, Naoto, Okawa, Masako, Hirata, Koichi, Mizuki, Nobuhisa, Uchimura, Naohisa, Shimizu, Tetsuo, Inoue, Yuichi, Honda, Yutaka, Mishima, Kazuo, Honda, Makoto, and Tokunaga, Katsushi

Published
2015
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30. Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

Author

Musolf, Anthony M., Haarman, Annechien E. G., Luben, Robert N., Ong, Jue-Sheng, Patasova, Karina, Trapero, Rolando Hernandez, Marsh, Joseph, Jain, Ishika, Jain, Riya, Wang, Paul Zhiping, Lewis, Deyana D., Tedja, Milly S., Iglesias, Adriana I., Li, Hengtong, Cowan, Cameron S., Baird, Paul Nigel, Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Guggenheim, Jeremy A., Guo, Xiaobo, Han, Xikun, He, Mingguang, Hewitt, Alex W., Hoang, Quan V., Iyengar, Sudha K., Jonas, Jost B., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana, Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, MacGregor, Stuart, Mackey, David A., Martin, Nicholas G., Meguro, Akira, Middlebrooks, Candace, Miyake, Masahiro, Mizuki, Nobuhisa, Musolf, Anthony, Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Paterson, Andrew D., Pennell, Craig, Pfeiffer, Norbert, Polasek, Ozren, Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Sahebjada, Srujana, Simpson, Claire L., Tai, E-Shyong, Tideman, J. Willem L., Tsujikawa, Akitaka, Wang, Ningli, Bin, Wei Wen, Williams, Cathy, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Wang, Ya Xing, Yamashiro, Kenji, Yam, Jason C. S., Yap, Maurice K. H., Yazar, Seyhan, Yip, Shea Ping, Young, Terri L., Zhou, Xiangtian, Biino, Ginevra, Klein, Alison P., Duggal, Priya, Hayward, Caroline, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Pärssinen, Olavi, Saw, Seang-Mei, Stambolian, Dwight, Hysi, Pirro G., Khawaja, Anthony P., Vitart, Veronique, Hammond, Christopher J., van Duijn, Cornelia M., Verhoeven, Virginie J. M., Klaver, Caroline C. W., and Bailey-Wilson, Joan E.

Subjects
genetic predisposition to disease, perinnölliset taudit, ympäristötekijät, taittovirheet, perinnöllisyyslääketiede, riskitekijät, quantitative trait, periytyvyys, genome-wide association studies, quantitative trait loci, perimä, silmätaudit, microarrays, perinnöllisyys
Abstract

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions. peerReviewed

Published
2023

33. Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease

Author

Kirino, Yohei, Zhou, Qing, Ishigatsubo, Yoshiaki, Mizuki, Nobuhisa, Tugal-Tutkun, Ilknur, Seyahi, Emire, Özyazgan, Yilmaz, Ugurlu, Serdal, Erer, Burak, Abaci, Neslihan, Ustek, Duran, Meguro, Akira, Ueda, Atsuhisa, Takeno, Mitsuhiro, Inoko, Hidetoshi, Ombrello, Michael J., Satorius, Colleen L., Maskeri, Baishali, Mullikin, James C., Sun, Hong-Wei, Gutierrez-Cruz, Gustavo, Kim, Yoonhee, Wilson, Alexander F., Kastner, Daniel L., Gül, Ahmet, and Remmers, Elaine F.

Published
2013

34. Clinical manifestations of Behçet’s disease depending on sex and age: results from Japanese nationwide registration

Author

Ishido, Takehito, Horita, Nobuyuki, Takeuchi, Masaki, Kawagoe, Tatsukata, Shibuya, Etsuko, Yamane, Takahiro, Hayashi, Takahiko, Meguro, Akira, Ishido, Mizuho, Minegishi, Kaoru, Yoshimi, Ryusuke, Kirino, Yohei, Kato, Shingo, Arimoto, Jun, Ishigatsubo, Yoshiaki, Takeno, Mitsuhiro, Kurosawa, Michiko, Kaneko, Takeshi, and Mizuki, Nobuhisa

Published
2017
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35. Immune checkpoint inhibitor–induced arthralgia is tightly associated with improved overall survival in cancer patients.

Author

Maeda, Ayaka, Takase-Minegishi, Kaoru, Kirino, Yohei, Hamada, Naoki, Kunishita, Yosuke, Yoshimi, Ryusuke, Meguro, Akira, Namkoong, Ho, Horita, Nobuyuki, Nakajima, Hideaki, and Group, Yokohama City University irAE Working

Subjects
CANCER patient psychology, ONLINE information services, MEDICAL databases, IMMUNE checkpoint inhibitors, MEDICAL information storage & retrieval systems, CONFIDENCE intervals, SYSTEMATIC reviews, JOINT pain, DESCRIPTIVE statistics, RESEARCH funding, TUMORS, MEDLINE, ODDS ratio, OVERALL survival
Abstract

Objectives With the increased use of immune checkpoint inhibitors (ICIs) in cancer patients, arthralgia has been the most commonly reported musculoskeletal immune-related adverse event (irAE). We aimed to characterize arthralgia and its association with overall survival (OS). Material and methods Randomized controlled trials (RCTs) reporting on data for ICI-induced arthralgia from four online databases were comprehensively investigated. Odds ratios (ORs) with 95% CIs were calculated for arthralgia using a random-effects model meta-analysis. Individual patient data were reconstructed from RCTs assessing OS in patients with or without ICI-induced arthralgia. We also retrospectively collected data on the clinical features and outcomes of ICI-induced arthralgia in the Yokohama City University (YCU) registry. Results We analysed 14 377 patients from 24 RCTs. The OR of ICI-induced arthralgia was 1.37 (95% CI 1.20, 1.56). Of the 369 patients in the YCU registry, 50 (13.6%) developed ICI-induced arthralgia. Among them, 30 had other grade ≥2 irAEs, which was noticeably more frequent than in those without arthralgia (OR 1.92, 95% CI 1.04, 3.52). By irAE types, a significant difference was found for relative adrenal insufficiency (OR 3.88, 95% CI 1.80, 8.39). In the YCU registry, patients with (vs without) ICI-induced arthralgia had better OS (log-rank, P  < 0.001). OS results were validated from RCT patients with matched cancer types, drugs, and time to arthralgia onset (hazard ratio 0.34, 95% CI 0.17, 0.65, P  < 0.001). Conclusions If arthralgia develops after ICIs, another irAE, such as relative adrenal insufficiency, may have developed. The incidence of arthralgia was associated with better OS, and the condition of patients with irAEs must be carefully evaluated to determine optimal management. [ABSTRACT FROM AUTHOR]

Published
2023
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38. Suction Break During Femtosecond Laser-Assisted Cataract Surgery and Misplaced Laser Beam Delivery to the Corneal Layers

Author

Teshigawara, Takeshi, Meguro, Akira, and Mizuki, Nobuhisa

Subjects
genetic structures, laser beam trace, safeguard, Case Report, complication, sense organs, eye diseases, FLACS
Abstract

A 68-year-old man with senile cataract underwent femtosecond laser-assisted cataract surgery (FLACS) in his left eye. Only anterior capsulotomy and lens fragmentation were planned with a femtosecond laser. Docking of the patient interface and anterior capsulotomy were completed without any complications. During the lens fragmentation process, the patient could not resist the temptation to squeeze his eyes shut, which caused excessive pressure from the eyelids. As the procedure proceeded, a bubble was formed at the edge of the patient interface and became increasingly larger. In addition, wrinkles in the conjunctiva were observed. As the lens fragmentation was approaching the final stage, the surgeon was reluctant to release the foot pedal to stop the laser emission. Finally, the patient interface lost adhesion to the cornea. Owing to the high repetition rate of the laser, the laser beam slipped into the corneal layers. Under an operating microscope, a grid-pattern laser beam trace was observed in the peripheral part of the cornea. As posterior capsule rupture occurred during the lens removal process, IOL insertion was no longer a suitable option. Therefore, scleral fixation of the implanted intraocular lens was performed without any unexpected events. One year postoperatively, the laser beam trace in the corneal layers could still be identified by slit-lamp examination. Nonetheless, since the laser beam trace was limited to the peripheral part of the cornea, and there was no damage to the central cornea, the visual acuity was 20/20. FLACS has significant benefits, especially in challenging cases of cataract surgery, and has well-established built-in safeguards for complications. However, this case study indicates the possibility of a suction break during laser emission and the preoperative risk factors. It demonstrates that recognizing the signs of suction break is necessary to avoid misplacement of the laser beam on the corneal layers.

Published
2020

39. Identification of Novel Risk Loci for Behçet's Disease–Related Uveitis in a Chinese Population in a Genome‐Wide Association Study

Author

Su, Guannan, primary, Zhong, Zhenyu, additional, Zhou, Qingyun, additional, Du, Liping, additional, Ye, Zi, additional, Li, Fuzhen, additional, Zhuang, Wenjuan, additional, Wang, Chaokui, additional, Liang, Liang, additional, Ji, Yan, additional, Cao, Qingfeng, additional, Wang, Qingfeng, additional, Chang, Rui, additional, Tan, Handan, additional, Yi, Shenglan, additional, Li, Yujing, additional, Feng, Xiaojie, additional, Liao, Weiting, additional, Zhang, Wanyun, additional, Shu, Jia, additional, Tan, Shiyao, additional, Xu, Jing, additional, Pan, Su, additional, Li, Hongxi, additional, Shi, Jing, additional, Chen, Zhijun, additional, Zhu, Ying, additional, Ye, Xingsheng, additional, Tan, Xiao, additional, Zhang, Jun, additional, Liu, Zhangluxi, additional, Huang, Fanfan, additional, Yuan, Gangxiang, additional, Pang, Tingting, additional, Liu, Yizong, additional, Ding, Jiadong, additional, Gao, Yingnan, additional, Zhang, Meifen, additional, Chi, Wei, additional, Liu, Xiaoli, additional, Wang, Yuqin, additional, Chen, Ling, additional, Meguro, Akira, additional, Takeuchi, Masaki, additional, Mizuki, Nobuhisa, additional, Ohno, Shigeaki, additional, Zuo, Xianbo, additional, Kijlstra, Aize, additional, and Yang, Peizeng, additional

Published
2022
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42. Common variants in the COL2A1 gene are associated with lattice degeneration of the retina in a Japanese population

Author

Okazaki, Shinya, Meguro, Akira, Ideta, Ryuichi, Takeuchi, Masaki, Yonemoto, Junichi, Teshigawara, Takeshi, Yamane, Takahiro, Okada, Eiichi, Ideta, Hidenao, and Mizuki, Nobuhisa

Subjects
Asian People, Japan, Mutation, Retinal Degeneration, Humans, Genetic Predisposition to Disease, Collagen Type II, Polymorphism, Single Nucleotide, Alleles, Linkage Disequilibrium, Research Article
Abstract

Purpose Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion that predisposes the patient to retinal detachment. It has been suggested that collagen type II alpha 1 (COL2A1) gene variants may contribute to the development of disorders associated with retinal detachment. Here we investigated whether COL2A1 gene variants were associated with the risk of lattice degeneration of the retina. Methods We recruited 634 Japanese patients with lattice degeneration of the retina and 1694 Japanese healthy controls. We genotyped 13 tagging single-nucleotide polymorphisms (SNPs) in COL2A1. We also performed imputation analysis to evaluate the potential association of un-genotyped COL2A1 SNPs, involving the imputation of 65 SNPs. Results Two intronic SNPs—rs1793954 and rs1635533—were significantly associated with lattice degeneration of the retina. The SNP rs1793954 showed the strongest association, with its C allele carrying an increased disease risk (p = 0.0016, corrected p = 0.021, OR = 1.25). The rs1793954 and rs1635533 SNPs were in strong linkage disequilibrium with each other (r2 = 0.99), and conditional analysis revealed that rs1793954 could account for the association between rs1635533 and the disease. Conclusions Our results suggested that COL2A1 gene variants may contribute to the development of lattice degeneration of the retina. Further genetic and functional analyses of COL2A1 variants are needed to clarify the present findings.

Published
2019

43. The advantages of femtosecond laser-assisted cataract surgery for zonulopathy

Author

Teshigawara, Takeshi, Meguro, Akira, Sanjo, Sanae, Hata, Seiichiro, and Mizuki, Nobuhisa

Subjects
anterior segment optical coherent tomography, genetic structures, femtosecond laser-assisted cataract surgery, zonular dialysis, phacodonesis, Case Report, optic capture, sense organs, eye diseases
Abstract

Zonulopathy is a major concern if found during cataract surgery as it can cause further complications. Such complications may occur during continuous curvilinear capsulorhexis (CCC), lens fragmentation and intraocular lens (IOL) implantation. Femtosecond laser-assisted cataract surgery (FLACS) devices, such as the LenSX (Alcon Laboratories) are advantageous because they can detect the area and largest point of zonulopathy via anterior segment optical coherent tomography (AS-OCT) before the manual part of the procedure. CCC and lens fragmentation can also minimize further zonular stress. A symmetrical CCC is ideal for IOL implantation in the sulcus with optic capture. In the present study, we did not detect significant zonular dehiscence preoperatively in either of the eyes of our 68-year-old patient when using AS-OCT (CASIA2 Tomey). However, LenSx AS-OCT revealed zonular dehiscence in both eyes, perioperatively. We created CCC and lens fragmentation without causing stress to the zonules. In the subsequent manual part of procedure, we found zonular dehiscence in the same area as indicated by LenSx AS-OCT, which extended to approximately 200° in the right eye and 180° in the left. After lens fragmentation by LenSx, we successfully removed the lens without further zonular dialysis. However, zonular dialysis (>180°) in the right eye was too large to insert an IOL, either in the capsule or the sulcus. Therefore, we performed scleral IOL implantation. In the left eye, we avoided using capsular tension ring (CTR) for IOL placement to avoid further iatrogenic damage to the zonule. Instead, an IOL was inserted into the sulcus with optic capture to reduce the possibility of further stress to the zonula and phimosis. Post-surgically, the patient regained good eyesight in both eyes. This case illustrates the advantages of FLACS in addressing zonulopathy. The consistent creation of CCC and lens fragmentation by FLACS may increase success rates, even in unexpectedly challenging cases.

Published
2019

46. Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

Author

Fan, Qiao, Pozarickij, Alfred, Tan, Nicholas Y. Q., Guo, Xiaobo, Verhoeven, Virginie J. M., Vitart, Veronique, Guggenheim, Jeremy A., Miyake, Masahiro, Tideman, J. Willem L., Khawaja, Anthony P., Zhang, Liang, MacGregor, Stuart, Höhn, René, Chen, Peng, Biino, Ginevra, Wedenoja, Juho, Saffari, Seyed Ehsan, Tedja, Milly S., Xie, Jing, Lanca, Carla, Wang, Ya Xing, Sahebjada, Srujana, Mazur, Johanna, Mirshahi, Alireza, Martin, Nicholas G., Yazar, Seyhan, Pennell, Craig E., Yap, Maurice, Haarman, Annechien E. G., Enthoven, Clair A., Polling, JanRoelof, Hewitt, Alex W., Jaddoe, Vincent W. V., Van Duijn, Cornelia M., Hayward, Caroline, Polasek, Ozren, Tai, E-Shyong, Yoshikatsu, Hosoda, Hysi, Pirro G., Young, Terri L., Tsujikawa, Akitaka, Wang, Jie Jing, Mitchell, Paul, Pfeiffer, Norbert, Pärssinen, Olavi, Foster, Paul J., Fossarello, Maurizio, Yip, Shea Ping, Williams, Cathy, Hammond, Christopher J., Jonas, Jost B., He, Mingguang, Mackey, David A., Wong, Tien-Yin, Klaver, Caroline C. W., Saw, Seang-Mei, Baird, Paul N., Cheng, Ching-Yu, Bailey-Wilson, Joan E., Veluchamy, Amutha Barathi, Burdon, Kathryn P., Campbell, Harry, Chen, Li Jia, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cécile, Ding, Xiaohu, Evans, David M., Gharahkhani, Puya, Iglesias, Adriana I., Haller, Toomas, Han, Xikun, Hoang, Quan, Igo, Robert P., Iyengar, Sudha K., Kähönen, Mika, Kaprio, Jaakko, Klein, Barbara E., Klein, Ronald, Lass, Jonathan H., Lee, Kris, Lehtimäki, Terho, Lewis, Deyana D., Li, Qing, Li, Shi-Ming, Lyytikäinen, Leo-Pekka, Meguro, Akira, Metspalu, Andres, Middlebrooks, Candace D., Mizuki, Nobuhisa, Musolf, Anthony M., Nickels, Stefan, Oexle, Konrad, Pang, Chi Pui, Paterson, Andrew D., Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Stambolian, Dwight, Simpson, Claire L., Wang, Ningli, Bin Wei, Wen, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Yamashiro, Kenji, Yam, Jason C. S., Zhou, Xiangtian, Aslam, Tariq, Barman, Sarah A., Barrett, Jenny H., Bishop, Paul, Blows, Peter, Bunce, Catey, Carare, Roxana O., Chakravarthy, Usha, Chan, Michelle, Chua, Sharon Y. L., Crabb, David P., Cumberland, Philippa M., Day, Alexander, Desai, Parul, Dhillon, Bal, Dick, Andrew D., Egan, Cathy, Ennis, Sarah, Fruttiger, Marcus, Gallacher, John E. J., Garway-Heath, David F., Gibson, Jane, Gore, Dan, Hardcastle, Alison, Harding, Simon P., Hogg, Ruth E., Keane, Pearse A., Khaw, Sir Peng T., Lascaratos, Gerassimos, Lotery, Andrew J., Macgillivray, Tom, Mackie, Sarah, Martin, Keith, McGaughey, Michelle, McGuinness, Bernadette, McKay, Gareth J., McKibbin, Martin, Mitry, Danny, Moore, Tony, Morgan, James E., Muthy, Zaynah A., O’Sullivan, Eoin, Owen, Chris G., Patel, Praveen, Paterson, Euan, Peto, Tunde, Petzold, Axel, Rudnikca, Alicja R., Self, Jay, Sivaprasad, Sobha, Steel, David, Stratton, Irene, Strouthidis, Nicholas, Sudlow, Cathie, Thomas, Dhanes, Trucco, Emanuele, Tufail, Adnan, Vernon, Stephen A., Viswanathan, Ananth C., Williams, Katie, Woodside, Jayne V., Yates, Max M., Yip, Jennifer, Zheng, Yalin, Verhoeven, Virginie J. M. [0000-0001-7359-7862], Vitart, Veronique [0000-0002-4991-3797], Guggenheim, Jeremy A. [0000-0001-5164-340X], Khawaja, Anthony P. [0000-0001-6802-8585], Zhang, Liang [0000-0001-9264-170X], MacGregor, Stuart [0000-0001-6731-8142], Wedenoja, Juho [0000-0002-6155-0378], Saffari, Seyed Ehsan [0000-0002-6473-4375], Tedja, Milly S. [0000-0003-0356-9684], Lanca, Carla [0000-0001-9918-787X], Wang, Ya Xing [0000-0003-2749-7793], Martin, Nicholas G. [0000-0003-4069-8020], Yap, Maurice [0000-0003-4687-4101], Hewitt, Alex W. [0000-0002-5123-5999], Jaddoe, Vincent W. V. [0000-0003-2939-0041], Hayward, Caroline [0000-0002-9405-9550], Hysi, Pirro G. [0000-0001-5752-2510], Young, Terri L. [0000-0001-6994-9941], Wang, Jie Jing [0000-0001-9491-4898], Pfeiffer, Norbert [0000-0002-5766-2617], Foster, Paul J. [0000-0002-4755-177X], Hammond, Christopher J. [0000-0002-3227-2620], Jonas, Jost B. [0000-0003-2972-5227], Klaver, Caroline C. W. [0000-0002-2355-5258], Baird, Paul N. [0000-0002-1305-3502], and Apollo - University of Cambridge Repository

Subjects
genetic structures, 45, 692/699/3161/3163, 631/208/727/2000, 631/208/205/2138, 45/43, article, sense organs, eye diseases
Abstract

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects on eye elongation. Implicated genes are involved in extracellular matrix organization, developmental process for body and eye, connective tissue cartilage and glycosylation protein activities. Our study provides insights into population-specific novel genes for corneal curvature, and their pleiotropic effect in regulating eye size or conferring susceptibility to myopia.

Published
2021
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47. The Effect of Age, Postoperative Refraction, and Pre- and Postoperative Pupil Size on Halo Size and Intensity in Eyes Implanted with a Trifocal or Extended Depth-of-Focus Lens

Author

Teshigawara,Takeshi, Meguro,Akira, Mizuki,Nobuhisa, Teshigawara,Takeshi, Meguro,Akira, and Mizuki,Nobuhisa

Abstract

Takeshi Teshigawara,1– 3 Akira Meguro,3 Nobuhisa Mizuki3 1Department of Ophthalmology, Yokosuka Chuoh Eye Clinic, Yokosuka, Kanagawa, 238-0008, Japan; 2Tsurumi Chuoh Eye Clinic, Yokohama, Kanagawa, 230-0051, Japan; 3Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Kanagawa, 236-0004, JapanCorrespondence: Takeshi TeshigawaraDepartment of Ophthalmology, Yokosuka Chuoh Eye Clinic, 2-6 Odaki-cho, Yokosuka, Kanagawa, 238-0008, JapanTel +81 46 827 4001Fax +81 46 827 4141Email teshitake@gmail.comPurpose: Halos are a chief source of patient dissatisfaction after multifocal intraocular lens (IOL) implantation. The primary purpose of this study was to investigate the influence of age, postoperative refraction, and pre- and postoperative pupil size on postoperative halo size with a trifocal diffractive IOL (AcrySof IQ PanOptix) and extended depth-of-focus (EDOF) IOL (TECNIS Symfony) to determine whether these factors could predict postoperative halo size.Patients and Methods: This single-center, open-label study conducted between October 2018 and April 2020 in Yokosuka, Japan included 160 patients: 80 with PanOptix and 80 with Symfony IOLs. Size and intensity of the halos were examined binocularly using a computer-based simulator (Eyeland Design Network GmbH) and scored from 0 (minimum) to 10 (maximum) at 1, 3, and 6 months postoperatively, along with the change in each variable for both IOLs. The respective correlations of halo size with age, postoperative refraction, pre- and postoperative pupil size, and discomfort level due to the halo were also investigated 6 months postoperatively.Results: Halo size and intensity were significantly mitigated between 1, 3, and 6 months postoperatively. Throughout the observation period, halo size was significantly larger with PanOptix than with Symphony (P < 0.05), and halo intensity was significantly higher with Symphony than with PanOptix (P < 0.05). The pre- and postoperative pupil size correl

Published
2021

50. Behçet’s disease and activities of daily living

Author

Nagano, Aoi, primary, Takeuchi, Masaki, additional, Horita, Nobuyuki, additional, Teshigawara, Takeshi, additional, Kawagoe, Tatsukata, additional, Mizuki, Yuki, additional, Meguro, Akira, additional, Nakano, Hiroto, additional, Kirino, Yohei, additional, Takase-Minegishi, Kaoru, additional, Yoshimi, Ryusuke, additional, Kurosawa, Michiko, additional, Fukumoto, Takeshi, additional, Takeno, Mitsuhiro, additional, Kaneko, Takeshi, additional, and Mizuki, Nobuhisa, additional

Published
2021
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