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223 results on '"Baird, Paul N."'

6. 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. Artificial intelligence measured 3D body composition to predict pathological response in rectal cancer patients.

Author

Wei, Matthew Y, Cao, Ke, Hong, Wei, Yeung, Josephine, Lee, Margaret, Gibbs, Peter, Faragher, Ian G., Baird, Paul N., and Yeung, Justin M.

Subjects
PATIENTS, BODY composition, RECTAL cancer, PRESERVATION of organs, tissues, etc., ARTIFICIAL intelligence
Abstract

Background: The treatment of locally advanced rectal cancer (LARC) is moving towards total neoadjuvant therapy and potential organ preservation. Of particular interest are predictors of pathological complete response (pCR) that can guide personalized treatment. There are currently no clinical biomarkers which can accurately predict neoadjuvant therapy (NAT) response but body composition (BC) measures present as an emerging contender. The primary aim of the study was to determine if artificial intelligence (AI) derived body composition variables can predict pCR in patients with LARC. Methods: LARC patients who underwent NAT followed by surgery from 2012 to 2023 were identified from the Australian Comprehensive Cancer Outcomes and Research Database registry (ACCORD). A validated in‐house pre‐trained 3D AI model was used to measure body composition via computed tomography images of the entire Lumbar‐3 vertebral level to produce a volumetric measurement of visceral fat (VF), subcutaneous fat (SCF) and skeletal muscle (SM). Multivariate analysis between patient body composition and histological outcomes was performed. Results: Of 214 LARC patients treated with NAT, 22.4% of patients achieved pCR. SM volume (P = 0.015) and age (P = 0.03) were positively associated with pCR in both male and female patients. SCF volume was associated with decreased likelihood of pCR (P = 0.059). Conclusion: This is the first study in the literature utilizing AI‐measured 3D Body composition in LARC patients to assess their impact on pathological response. SM volume and age were positive predictors of pCR disease in both male and female patients following NAT for LARC. Future studies investigating the impact of body composition on clinical outcomes and patients on other neoadjuvant regimens such as TNT are potential avenues for further research. [ABSTRACT FROM AUTHOR]

Published
2024
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11. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

Author

Hardcastle, Alison J., Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J., Davidson, Alice E., Inglehearn, Chris F., Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne E. M., Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E. Rojas, Khawaja, Anthony P., Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart T. H., Geerards, Annette J. M., Haudum, Christoph W., Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J., Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S., Krauss, Ronald M., Theusch, Elisabeth, Charlesworth, Jac C., Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A., Richardson, Andrea J., Mitchell, Paul A., Taylor, Kent D., Melles, Ronald B., Aldave, Anthony J., Mills, Richard A., Cao, Ke, Chan, Elsie, Daniell, Mark D., Wang, Jie Jin, Rotter, Jerome I., Hewitt, Alex W., MacGregor, Stuart, Klaver, Caroline C. W., Ramdas, Wishal D., Craig, Jamie E., Iyengar, Sudha K., O’Brart, David, Jorgenson, Eric, Baird, Paul N., Rabinowitz, Yaron S., Burdon, Kathryn P., Hammond, Chris J., Tuft, Stephen J., and Hysi, Pirro G.

Published
2021
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13. The association of body composition on chemotherapy toxicities in non‐metastatic colorectal cancer patients: a systematic review.

Author

Choi, Cheuk Shan, Kin, Kamol, Cao, Ke, Hutcheon, Evelyn, Lee, Margaret, Chan, Steven T. F., Arafat, Yasser, Baird, Paul N., and Yeung, Justin M. C.

Subjects
BODY composition, COLORECTAL cancer, CANCER patients, ADIPOSE tissues, MUSCLE mass
Abstract

Background: In recent years, certain body composition measures, assessed by computed tomography (CT), have been found to be associated with chemotherapy toxicities. This review aims to explore available data on the relationship between skeletal muscle and adiposity, including visceral adipose tissue (VAT), subcutaneous adipose tissue (SAT), intramuscular and intermuscular adipose tissue and their association with chemotherapy toxicity in non‐metastatic colorectal cancer (CRC) patients. Methods: A systematic literature search following PRISMA guidelines was conducted in Medline, Embase, Cochrane and Web of Science, for papers published between 2011 and 2023. The search strategy combined keywords and MESH terms relevant to 'body composition', 'chemotherapy toxicities', and 'non‐metastatic colorectal cancer'. Results: Out of 3868 studies identified, six retrospective studies fulfilled the inclusion criteria with 1024 eligible patients. Low skeletal muscle mass was strongly associated with increased incidence of both chemotherapy toxicities and dose‐limiting toxicity (DLT). The association of VAT, intramuscular and intermuscular adiposity was heterogeneous and inconclusive. There was no association between SAT and chemotherapy intolerance. No universal definitions or cut‐offs for sarcopenia and obesity were noted. All studies utilized 2‐dimensional (2D) CT slices for CT body composition assessment with varied selection on the vertebral landmark and inconsistent reporting of tissue‐defining Hounsfield unit (HU) measurements. Conclusion: Low skeletal muscle is associated with chemotherapy toxicities in non‐metastatic CRC. However, quality evidence on the role of adiposity is limited and heterogeneous. More studies are needed to confirm these associations with an emphasis on a more coherent body composition definition and an approach to its assessment, especially regarding sarcopenia. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H ( CFH ) gene family

Author

Cantsilieris, Stuart, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Penewit, Kelsi, Munson, Katherine M., Sorensen, Melanie, Welch, AnneMarie E., Dang, Vy, Grassmann, Felix, Richardson, Andrea J., Guymer, Robyn H., Graves-Lindsay, Tina A., Wilson, Richard K., Weber, Bernhard H. F., Baird, Paul N., Allikmets, Rando, and Eichler, Evan E.

Published
2018

16. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Author

Tedja, Milly S., Wojciechowski, Robert, Hysi, Pirro G., Eriksson, Nicholas, Furlotte, Nicholas A., Verhoeven, Virginie J. M., Iglesias, Adriana I., Meester-Smoor, Magda A., Tompson, Stuart W., Fan, Qiao, Khawaja, Anthony P., Cheng, Ching-Yu, Höhn, René, Yamashiro, Kenji, Wenocur, Adam, Grazal, Clare, Haller, Toomas, Metspalu, Andres, Wedenoja, Juho, Jonas, Jost B., Wang, Ya Xing, Xie, Jing, Mitchell, Paul, Foster, Paul J., Klein, Barbara E. K., Klein, Ronald, Paterson, Andrew D., Hosseini, S. Mohsen, Shah, Rupal L., Williams, Cathy, Teo, Yik Ying, Tham, Yih Chung, Gupta, Preeti, Zhao, Wanting, Shi, Yuan, Saw, Woei-Yuh, Tai, E-Shyong, Sim, Xue Ling, Huffman, Jennifer E., Polašek, Ozren, Hayward, Caroline, Bencic, Goran, Rudan, Igor, Wilson, James F., The CREAM Consortium, 23andMe Research Team, UK Biobank Eye and Vision Consortium, Joshi, Peter K., Tsujikawa, Akitaka, Matsuda, Fumihiko, Whisenhunt, Kristina N., Zeller, Tanja, van der Spek, Peter J., Haak, Roxanna, Meijers-Heijboer, Hanne, van Leeuwen, Elisabeth M., Iyengar, Sudha K., Lass, Jonathan H., Hofman, Albert, Rivadeneira, Fernando, Uitterlinden, André G., Vingerling, Johannes R., Lehtimäki, Terho, Raitakari, Olli T., Biino, Ginevra, Concas, Maria Pina, Schwantes-An, Tae-Hwi, Igo, Jr, Robert P., Cuellar-Partida, Gabriel, Martin, Nicholas G., Craig, Jamie E., Gharahkhani, Puya, Williams, Katie M., Nag, Abhishek, Rahi, Jugnoo S., Cumberland, Phillippa M., Delcourt, Cécile, Bellenguez, Céline, Ried, Janina S., Bergen, Arthur A., Meitinger, Thomas, Gieger, Christian, Wong, Tien Yin, Hewitt, Alex W., Mackey, David A., Simpson, Claire L., Pfeiffer, Norbert, Pärssinen, Olavi, Baird, Paul N., Vitart, Veronique, Amin, Najaf, van Duijn, Cornelia M., Bailey-Wilson, Joan E., Young, Terri L., Saw, Seang-Mei, Stambolian, Dwight, MacGregor, Stuart, Guggenheim, Jeremy A., Tung, Joyce Y., Hammond, Christopher J., and Klaver, Caroline C. W.

Published
2018
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17. Identification of Differences in Body Composition Measures Using 3D-Derived Artificial Intelligence from Multiple CT Scans across the L3 Vertebra Compared to a Single Mid-Point L3 CT Scan.

Author

Cao, Ke, Yeung, Josephine, Arafat, Yasser, Wei, Matthew Y. K., Yeung, Justin M. C., and Baird, Paul N.

Abstract

Purpose. Body composition analysis in colorectal cancer (CRC) typically utilises a single 2D-abdominal axial CT slice taken at the mid-L3 level. The use of artificial intelligence (AI) allows for analysis of the entire L3 vertebra (non-mid-L3 and mid-L3). The goal of this study was to determine if the use of an AI approach offered any additional information on capturing body composition measures. Methods. A total of 2203 axial CT slices of the entire L3 level (4–46 slices were available per patient) were retrospectively collected from 203 CRC patients treated at Western Health, Melbourne (97 males; 47.8%). A pretrained artificial intelligence (AI) model was used to segment muscle, visceral adipose tissue (VAT), and subcutaneous adipose tissue (SAT) on these slices. The difference in body composition measures between mid-L3 and non-mid-L3 scans was compared for each patient, and for males and females separately. Results. Body composition measures derived from non-mid-L3 scans exhibited a median range of 0.85% to 6.28% (average percent difference) when compared to the use of a single mid-L3 scan. Significant variation in the VAT surface area (p = 0.02) was observed in females compared to males, whereas male patients exhibited a greater variation in SAT surface area (p < 0.001) and radiodensity (p = 0.007). Conclusion. Significant differences in various body composition measures were observed when comparing non-mid-L3 slices to only the mid-L3 slice. Researchers should be aware that considering only the use of a single midpoint L3 CT scan slice will impact the estimate of body composition measurements. [ABSTRACT FROM AUTHOR]

Published
2023
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18. Can sarcopenia predict survival in locally advanced rectal cancer patients?

Author

Gartrell, Richard, Qiao, Jing, Kiss, Nicole, Faragher, Ian, Chan, Steven, Baird, Paul N., and Yeung, Justin M.

Subjects
RECTAL cancer, RADIOTHERAPY, SARCOPENIA, CANCER patients, LUMBAR vertebrae, CANCER prognosis
Abstract

Background: There is mounting evidence that suggests sarcopenia can be used to predict survival outcomes in patients with colon cancer. However, the effect on locally advanced rectal cancer (LARC) is less clear. We sought to determine the association between sarcopenia on Overall Survival and Recurrence‐free Survival (OS and RFS) in patients with LARC undergoing multimodal treatment. Methods: A retrospective study was undertaken of all pre‐treatment stage 2–3 rectal cancer patients who underwent neo‐adjuvant treatment and surgery with curative intent between January 2010 and September 2016 at Western Health. Sarcopenia was measured on pre‐treatment staging scans at the third lumbar vertebrae and defined using cohort‐derived, sex‐specific thresholds. Primary outcomes were OS and RFS. Results: A total of 132 patients with LARC were analysed. Sarcopenia: Hazard ratio (HR) 3.71; 95% CI, 1.28–10.75, P = 0.016 was independently associated with worse Overall Survival following multivariate analysis. There was no significant relationship between sarcopenia and RFS: Time ratio (TR) 1.67; 95% CI 0.52–5.34, P = 0.386. Conclusion: Sarcopenia was found to be an independent risk factor for worse overall survival, but not recurrence free survival, in patients with locally advanced rectal cancer undergoing neo‐adjuvant chemo‐radiotherapy and surgery with curative intent. [ABSTRACT FROM AUTHOR]

Published
2023
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21. Non-genetic risk factors for keratoconus.

Author

Song, Minji, Fang, Qing Yi, Seth, Ishith, Baird, Paul N, Daniell, Mark D, and Sahebjada, Srujana

Subjects
SLEEP positions, KERATOCONUS, ENVIRONMENTAL risk, ATOPY, ALLERGIC conjunctivitis, ODDS ratio, ETIOLOGY of diseases
Abstract

Keratoconus is a complex and multifactorial disease and its exact aetiology remains unknown. This current study examined the important environmental risk factors and their association with keratoconus. This study was registered in the PROSPERO International Prospective Register of systematic reviews under registration number CRD42021256792 in 2021. Scopus, Web of Science, PubMed, and Cochrane CENTRAL databases were searched for all relevant articles published from 1 January 1900 to 31 July 2021. National Institutes of Health Quality Assessment Tool was used to assess the methodological quality of the studies. The assessment for statistical heterogeneity was assessed using the Z-statistics on RevMan v5.4. P-value of <0.05 was considered as statistically significant and I2 < 25% as homogenous. Thirty studies were included in this meta-analysis. Pooled odds ratio was calculated with 95% CI. The pooled odds ratio (OR) of eye rubbing, atopy, asthma, and eczema was 3.64 (95% CI, 2.02, 6.57), 1.90 (95% CI, 1.22, 2.94), 1.36 (95% CI, 1.15, 1.61) and 1.90 (95% CI, 1.22, 2.94), respectively. The OR for diabetes was 0.86 (95% CI 0.73, 1.02), and use of sunglasses, contact lens, allergic conjunctivitis, side sleep position and prone sleep position was 0.40 (95% CI, 0.16, 0.99), 1.68 (0.70, 4.00), 2.24 (95% CI, 0.68, 7.36), 3.81 (95% CI, 0.31, 46.23), 12.76 (95% CI, 0.27, 598.58), respectively. Twenty studies were considered to be of high quality, nine to be moderate and one to be low. Environmental risk factors have been identified to play a role in the susceptibility of keratoconus. However, further large-scale longitudinal studies are needed to understand the mechanisms between environmental risk factors and keratoconus. [ABSTRACT FROM AUTHOR]

Published
2023
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22. The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders.

Author

Biasella, Fabiola, Plössl, Karolina, Baird, Paul N., and Weber, Bernhard H. F.

Subjects
RETINAL diseases, MACULAR degeneration, PATHOLOGICAL physiology, RETINAL degeneration, NOSOLOGY, DIABETIC retinopathy
Abstract

Inherited retinal dystrophies (IRDs) as well as genetically complex retinal phenotypes represent a heterogenous group of ocular diseases, both on account of their phenotypic and genotypic characteristics. Therefore, overlaps in clinical features often complicate or even impede their correct clinical diagnosis. Deciphering the molecular basis of retinal diseases has not only aided in their disease classification but also helped in our understanding of how different molecular pathologies may share common pathomechanisms. In particular, these relate to dysregulation of two key processes that contribute to cellular integrity, namely extracellular matrix (ECM) homeostasis and inflammation. Pathological changes in the ECM of Bruch's membrane have been described in both monogenic IRDs, such as Sorsby fundus dystrophy (SFD) and Doyne honeycomb retinal dystrophy (DHRD), as well as in the genetically complex age-related macular degeneration (AMD) or diabetic retinopathy (DR). Additionally, complement system dysfunction and distorted immune regulation may also represent a common connection between some IRDs and complex retinal degenerations. Through highlighting such overlaps in molecular pathology, this review aims to illuminate how inflammatory processes and ECM homeostasis are linked in the healthy retina and how their interplay may be disturbed in aging as well as in disease. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

Author

Li, Qing, Wojciechowski, Robert, Simpson, Claire L., Hysi, Pirro G., Verhoeven, Virginie J. M., Ikram, Mohammad Kamran, Höhn, René, Vitart, Veronique, Hewitt, Alex W., Oexle, Konrad, Mäkelä, Kari-Matti, MacGregor, Stuart, Pirastu, Mario, Fan, Qiao, Cheng, Ching-Yu, St Pourcain, Beaté, McMahon, George, Kemp, John P., Northstone, Kate, Rahi, Jugnoo S., Cumberland, Phillippa M., Martin, Nicholas G., Sanfilippo, Paul G., Lu, Yi, Wang, Ya Xing, Hayward, Caroline, Polašek, Ozren, Campbell, Harry, Bencic, Goran, Wright, Alan F., Wedenoja, Juho, Zeller, Tanja, Schillert, Arne, Mirshahi, Alireza, Lackner, Karl, Yip, Shea Ping, Yap, Maurice K. H., Ried, Janina S., Gieger, Christian, Murgia, Federico, Wilson, James F., Fleck, Brian, Yazar, Seyhan, Vingerling, Johannes R., Hofman, Albert, Uitterlinden, André, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart, Oostra, Ben A., Zhou, Xin, Teo, Yik-Ying, Tai, E. Shyong, Vithana, Eranga, Barathi, Veluchamy, Zheng, Yingfeng, Siantar, Rosalynn Grace, Neelam, Kumari, Shin, Youchan, Lam, Janice, Yonova-Doing, Ekaterina, Venturini, Cristina, Hosseini, S. Mohsen, Wong, Hoi-Suen, Lehtimäki, Terho, Kähönen, Mika, Raitakari, Olli, Timpson, Nicholas J., Evans, David M., Khor, Chiea-Chuen, Aung, Tin, Young, Terri L., Mitchell, Paul, Klein, Barbara, van Duijn, Cornelia M., Meitinger, Thomas, Jonas, Jost B., Baird, Paul N., Mackey, David A., Wong, Tien Yin, Saw, Seang-Mei, Pärssinen, Olavi, Stambolian, Dwight, Hammond, Christopher J., Klaver, Caroline C. W., Williams, Cathy, Paterson, Andrew D., Bailey-Wilson, Joan E., Guggenheim, Jeremy A., and The CREAM Consortium

Published
2015
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25. Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration

Author

Hageman Gregory S, Gehrs Karen, Lejnine Serguei, Bansal Aruna T, DeAngelis Margaret M, Guymer Robyn H, Baird Paul N, Allikmets Rando, Deciu Cosmin, Oeth Paul, and Perlee Lorah T

Subjects
age-related macular degeneration (AMD), choroidal neovascularisation (CNV), complement factor H (CFH), genetic testing, Medicine, Genetics, QH426-470
Abstract

Abstract Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD prevalence increases with age, clinical phenotypes are heterogeneous and control collections are prone to high false-negative rates, as many control subjects are likely to develop disease with advancing age. Risk prediction tests have been presented previously, using up to ten genetic markers and a range of self-reported non-genetic variables such as body mass index (BMI) and smoking history. In order to maximise the accuracy of prediction for mainstream genetic testing, we sought to derive a test comparable in performance to earlier testing models but based purely on genetic markers, which are static through life and not subject to misreporting. We report a multicentre assessment of a larger panel of single nucleotide polymorphisms (SNPs) than previously analysed, to improve further the classification performance of a predictive test to estimate the risk of developing choroidal neovascular (CNV) disease. We developed a predictive model based solely on genetic markers and avoided inclusion of self-reported variables (eg smoking history) or non-static factors (BMI, education status) that might otherwise introduce inaccuracies in calculating individual risk estimates. We describe the performance of a test panel comprising 13 SNPs genotyped across a consolidated collection of four patient cohorts obtained from academic centres deemed appropriate for pooling. We report on predictive effect sizes and their classification performance. By incorporating multiple cohorts of homogeneous ethnic origin, we obtained >80 per cent power to detect differences in genetic variants observed between cases and controls. We focused our study on CNV, a subtype of advanced AMD associated with a severe and potentially treatable form of the disease. Lastly, we followed a two-stage strategy involving both test model development and test model validation to present estimates of classification performance anticipated in the larger clinical setting. The model contained nine SNPs tagging variants in the regulators of complement activation (RCA) locus spanning the complement factor H (CFH), complement factor H-related 4 (CFHR4), complement factor H-related 5 (CFHR5) and coagulation factor XIII B subunit (F13B) genes; the four remaining SNPs targeted polymorphisms in the complement component 2 (C2), complement factor B (CFB), complement component 3 (C3) and age-related maculopathy susceptibility protein 2 (ARMS2) genes. The pooled sample size (1,132 CNV cases, 822 controls) allowed for both model development and model validation to confirm the accuracy of risk prediction. At the validation stage, our test model yielded 82 per cent sensitivity and 63 per cent specificity, comparable with metrics reported with earlier testing models that included environmental risk factors. Our test had an area under the curve of 0.80, reflecting a modest improvement compared with tests reported with fewer SNPs.

Published
2011
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32. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author

Verhoeven, Virginie J. M., Hysi, Pirro G., Saw, Seang-Mei, Vitart, Veronique, Mirshahi, Alireza, Guggenheim, Jeremy A., Cotch, Mary Frances, Yamashiro, Kenji, Baird, Paul N., Mackey, David A., Wojciechowski, Robert, Ikram, M. Kamran, Hewitt, Alex W., Duggal, Priya, Janmahasatian, Sarayut, Khor, Chiea-Chuen, Fan, Qiao, Zhou, Xin, Young, Terri L., Tai, E-Shyong, Goh, Liang-Kee, Li, Yi-Ju, Aung, Tin, Vithana, Eranga, Teo, Yik-Ying, Tay, Wanting, Sim, Xueling, Rudan, Igor, Hayward, Caroline, Wright, Alan F., Polasek, Ozren, Campbell, Harry, Wilson, James F., Fleck, Brian W., Nakata, Isao, Yoshimura, Nagahisa, Yamada, Ryo, Matsuda, Fumihiko, Ohno-Matsui, Kyoko, Nag, Abhishek, McMahon, George, Pourcain, Beate St., Lu, Yi, Rahi, Jugnoo S., Cumberland, Phillippa M., Bhattacharya, Shomi, Simpson, Claire L., Atwood, Larry D., Li, Xiaohui, Raffel, Leslie J., Murgia, Federico, Portas, Laura, Despriet, Dominiek D. G., van Koolwijk, Leonieke M. E., Wolfram, Christian, Lackner, Karl J., Tönjes, Anke, Mägi, Reedik, Lehtimäki, Terho, Kähönen, Mika, Esko, Tõnu, Metspalu, Andres, Rantanen, Taina, Pärssinen, Olavi, Klein, Barbara E., Meitinger, Thomas, Spector, Timothy D., Oostra, Ben A., Smith, Albert V., de Jong, Paulus T. V. M., Hofman, Albert, Amin, Najaf, Karssen, Lennart C., Rivadeneira, Fernando, Vingerling, Johannes R., Eiríksdóttir, Guðný, Gudnason, Vilmundur, Döring, Angela, Bettecken, Thomas, Uitterlinden, André G., Williams, Cathy, Zeller, Tanja, Castagné, Raphaële, Oexle, Konrad, van Duijn, Cornelia M., Iyengar, Sudha K., Mitchell, Paul, Wang, Jie Jin, Höhn, René, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Stambolian, Dwight, Wong, Tien-Yin, Hammond, Christopher J., and Klaver, Caroline C. W.

Published
2012
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38. Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

Author

Stambolian, Dwight, Wojciechowski, Robert, Oexle, Konrad, Pirastu, Mario, Li, Xiaohui, Raffel, Leslie J., Cotch, Mary Frances, Chew, Emily Y., Klein, Barbara, Klein, Ronald, Wong, Tien Y., Simpson, Claire L., Klaver, Caroline C.W., van Duijn, Cornelia M., Verhoeven, Virginie J.M., Baird, Paul N., Vitart, Veronique, Paterson, Andrew D., Mitchell, Paul, Saw, Seang Mei, Fossarello, Maurizio, Kazmierkiewicz, Krista, Murgia, Federico, Portas, Laura, Schache, Maria, Richardson, Andrea, Xie, Jing, Wang, Jie Jin, Rochtchina, Elena, Viswanathan, Ananth C., Hayward, Caroline, Wright, Alan F., Polašek, Ozren, Campbell, Harry, Rudan, Igor, Oostra, Ben A., Uitterlinden, André G., Hofman, Albert, Rivadeneira, Fernando, Amin, Najaf, Karssen, Lennart C., Vingerling, Johannes R., Hosseini, S.M., Döring, Angela, Bettecken, Thomas, Vatavuk, Zoran, Gieger, Christian, Wichmann, H.-Erich, Wilson, James F., Fleck, Brian, Foster, Paul J., Topouzis, Fotis, McGuffin, Peter, Sim, Xueling, Inouye, Michael, Holliday, Elizabeth G., Attia, John, Scott, Rodney J., Rotter, Jerome I., Meitinger, Thomas, and Bailey-Wilson, Joan E.

Published
2013
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45. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

Author

Spain, Sarah L., Carvajal-Carmona, Luis G., Howarth, Kimberley M., Jones, Angela M., Su, Zhan, Cazier, Jean-Baptiste, Williams, Jennet, Aaltonen, Lauri A., Pharoah, Paul, Kerr, David J., Cheadle, Jeremy, Li, Li, Casey, Graham, Vodicka, Pavel, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G., Montgomery, Grant W., Young, Joanne, Baird, Paul N., Morreau, Hans, van Wezel, Tom, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Carracedo, Angel, Castells, Antoni, Castellvi-Bel, Sergi, Dunlop, Malcolm, Houlston, Richard S., and Tomlinson, Ian P.M.

Published
2012
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46. Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies

Author

McKay, Gareth J., Patterson, Chris C., Chakravarthy, Usha, Dasari, Shilpa, Klaver, Caroline C., Vingerling, Johannes R., Ho, Lintje, de Jong, Paulus T.V.M., Fletcher, Astrid E., Young, Ian S., Seland, Johan H., Rahu, Mati, Soubrane, Gisele, Tomazzoli, Laura, Topouzis, Fotis, Vioque, Jesus, Hingorani, Aroon D., Sofat, Reecha, Dean, Michael, Sawitzke, Julie, Seddon, Johanna M., Peter, Inga, Webster, Andrew R., Moore, Anthony T., Yates, John R.W., Cipriani, Valentina, Fritsche, Lars G., Weber, Bernhard H.F., Keilhauer, Claudia N., Lotery, Andrew J., Ennis, Sarah, Klein, Michael L., Francis, Peter J., Stambolian, Dwight, Orlin, Anton, Gorin, Michael B., Weeks, Daniel E., Kuo, Chia-Ling, Swaroop, Anand, Othman, Mohammad, Kanda, Atsuhiro, Chen, Wei, Abecasis, Goncalo R., Wright, Alan F., Hayward, Caroline, Baird, Paul N., Guymer, Robyn H., Attia, John, Thakkinstian, Ammarin, and Silvestri, Giuliana

Published
2011
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47. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Author

Yu, Yi, Bhangale, Tushar R., Fagerness, Jesen, Ripke, Stephan, Thorleifsson, Gudmar, Tan, Perciliz L., Souied, Eric H., Richardson, Andrea J., Merriam, Joanna E., Buitendijk, Gabriëlle H.S., Reynolds, Robyn, Raychaudhuri, Soumya, Chin, Kimberly A., Sobrin, Lucia, Evangelou, Evangelos, Lee, Phil H., Lee, Aaron Y., Leveziel, Nicolas, Zack, Donald J., Campochiaro, Betsy, Campochiaro, Peter, Smith, R. Theodore, Barile, Gaetano R., Guymer, Robyn H., Hogg, Ruth, Chakravarthy, Usha, Robman, Luba D., Gustafsson, Omar, Sigurdsson, Haraldur, Ortmann, Ward, Behrens, Timothy W., Stefansson, Kari, Uitterlinden, André G., van Duijn, Cornelia M., Vingerling, Johannes R., Klaver, Caroline C.W., Allikmets, Rando, Brantley, Milam A., Jr, Baird, Paul N., Katsanis, Nicholas, Thorsteinsdottir, Unnur, Ioannidis, John P.A., Daly, Mark J., Graham, Robert R., and Seddon, Johanna M.

Published
2011
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48. Variations in Apolipoprotein E Frequency With Age in a Pooled Analysis of a Large Group of Older People

Author

McKay, Gareth J., Silvestri, Giuliana, Chakravarthy, Usha, Dasari, Shilpa, Fritsche, Lars G., Weber, Bernhard H., Keilhauer, Claudia N., Klein, Michael L., Francis, Peter J., Klaver, Caroline C., Vingerling, Johannes R., Ho, Lintje, De Jong, Paulus T. D. V., Dean, Michael, Sawitzke, Julie, Baird, Paul N., Guymer, Robyn H., Stambolian, Dwight, Orlin, Anton, Seddon, Johanna M., Peter, Inga, Wright, Alan F., Hayward, Caroline, Lotery, Andrew J., Ennis, Sarah, Gorin, Michael B., Weeks, Daniel E., Kuo, Chia-Ling, Hingorani, Aroon D., Sofat, Reecha, Cipriani, Valentina, Swaroop, Anand, Othman, Mohammad, Kanda, Atsuhiro, Chen, Wei, Abecasis, Goncalo R., Yates, John R., Webster, Andrew R., Moore, Anthony T., Seland, Johan H., Rahu, Mati, Soubrane, Gisele, Tomazzoli, Laura, Topouzis, Fotis, Vioque, Jesus, Young, Ian S., Fletcher, Astrid E., and Patterson, Chris C.

Published
2011
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