{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T04:51:15Z","timestamp":1770267075473,"version":"3.49.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2009,4,3]],"date-time":"2009-04-03T00:00:00Z","timestamp":1238716800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2009,5]]},"DOI":"10.1038\/jhg.2009.28","type":"journal-article","created":{"date-parts":[[2009,4,3]],"date-time":"2009-04-03T09:19:15Z","timestamp":1238750355000},"page":"289-297","source":"Crossref","is-referenced-by-count":43,"title":["Association of LOXL1 gene with Finnish exfoliation syndrome patients"],"prefix":"10.1038","volume":"54","author":[{"given":"Susanna","family":"Lemmel\u00e4","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Forsman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e4ivi","family":"Onkamo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Nurmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannele","family":"Laivuori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tero","family":"Kivel\u00e4","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e4ivi","family":"Puska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Heger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aldur","family":"Eriksson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henrik","family":"Forsius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irma","family":"J\u00e4rvel\u00e4","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2009,4,3]]},"reference":[{"key":"BFjhg200928_CR1","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1034\/j.1600-0420.2003.00021.x","volume":"81","author":"A Tuulonen","year":"2003","unstructured":"Tuulonen, A., Airaksinen, P. J., Erola, E., Forsman, E., Friberg, K., Kaila, M. et al. The Finnish evidence-based guideline for open-angle glaucoma. Acta Ophthalmol. Scand. 81, 3\u201318 (2003).","journal-title":"Acta Ophthalmol. Scand."},{"key":"BFjhg200928_CR2","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1097\/01.ijg.0000151683.04410.f3","volume":"14","author":"B Bengtsson","year":"2005","unstructured":"Bengtsson, B. & Heijl, A. A long-term prospective study of risk factors for glaucomatous visual field loss in patients with ocular hypertension. J. Glaucoma 14, 135\u2013138 (2005).","journal-title":"J. Glaucoma"},{"key":"BFjhg200928_CR3","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1001\/archopht.121.1.48","volume":"121","author":"MC Leske","year":"2003","unstructured":"Leske, M. C., Heijl, A., Hussein, M., Bengtsson, B., Hyman, L. & Komaroff, E. Factors for glaucoma progression and the effect of treatment: the early manifest glaucoma trial. Arch. Ophthalmol. 121, 48\u201356 (2003).","journal-title":"Arch. Ophthalmol."},{"key":"BFjhg200928_CR4","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1016\/j.ophtha.2004.09.024","volume":"112","author":"K Grodum","year":"2005","unstructured":"Grodum, K., Heijl, A. & Bengtsson, B. Risk of glaucoma in ocular hypertension with and without pseudoexfoliation. Ophthalmology 112, 386\u2013390 (2005).","journal-title":"Ophthalmology"},{"key":"BFjhg200928_CR5","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1034\/j.1600-0420.1999.770401.x","volume":"77","author":"A Ringvold","year":"1999","unstructured":"Ringvold, A. Epidemiology of the pseudo-exfoliation syndrome. Acta Ophthalmol. Scand. 77, 371\u2013375 (1999).","journal-title":"Acta Ophthalmol. Scand."},{"key":"BFjhg200928_CR6","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/BF00917834","volume":"18","author":"H Hirvela","year":"1994","unstructured":"Hirvela, H., Tuulonen, A. & Laatikainen, L. Intraocular pressure and prevalence of glaucoma in elderly people in Finland: a population-based study. Int. Ophthalmol. 18, 299\u2013307 (1994).","journal-title":"Int. Ophthalmol."},{"key":"BFjhg200928_CR7","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1136\/bjo.85.6.702","volume":"85","author":"RR Allingham","year":"2001","unstructured":"Allingham, R. R., Loftsdottir, M., Gottfredsdottir, M. S., Thorgeirsson, E., Jonasson, F., Sverisson, T. et al. Pseudoexfoliation syndrome in Icelandic families. Br. J. Ophthalmol. 85, 702\u2013707 (2001).","journal-title":"Br. J. Ophthalmol."},{"key":"BFjhg200928_CR8","first-page":"257","volume":"34","author":"KF Damji","year":"1999","unstructured":"Damji, K. F., Bains, H. S., Amjadi, K., Dohadwala, A. A., Valberg, J. D., Chevrier, R. et al. Familial occurrence of pseudoexfoliation in Canada. Can. J. Ophthalmol. 34, 257\u2013265 (1999).","journal-title":"Can. J. Ophthalmol."},{"key":"BFjhg200928_CR9","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1097\/00061198-199904000-00009","volume":"8","author":"MS Gottfredsdottir","year":"1999","unstructured":"Gottfredsdottir, M. S., Sverrisson, T., Musch, D. C. & Stefansson, E. Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland. J. Glaucoma 8, 134\u2013139 (1999).","journal-title":"J. Glaucoma"},{"key":"BFjhg200928_CR10","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1111\/j.1755-3768.2007.00978.x","volume":"85","author":"E Forsman","year":"2007","unstructured":"Forsman, E., Cantor, R. M., Lu, A., Eriksson, A., Fellman, J., Jarvela, I. et al. Exfoliation syndrome: prevalence and inheritance in a subisolate of the Finnish population. Acta Ophthalmol. Scand. 85, 500\u2013507 (2007).","journal-title":"Acta Ophthalmol. Scand."},{"key":"BFjhg200928_CR11","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1126\/science.1146554","volume":"317","author":"G Thorleifsson","year":"2007","unstructured":"Thorleifsson, G., Magnusson, K. P., Sulem, P., Walters, G. B., Gudbjartsson, D. F., Stefansson, H. et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science 317, 1397\u20131400 (2007).","journal-title":"Science"},{"key":"BFjhg200928_CR12","doi-asserted-by":"publisher","first-page":"4136","DOI":"10.1167\/iovs.06-1092","volume":"48","author":"S Lemmela","year":"2007","unstructured":"Lemmela, S., Forsman, E., Sistonen, P., Eriksson, A., Forsius, H. & Jarvela, I. Genome-wide scan of exfoliation syndrome. Invest. Ophthalmol. Vis. Sci. 48, 4136\u20134142 (2007).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"BFjhg200928_CR13","first-page":"217","volume":"9","author":"E Forsman","year":"2003","unstructured":"Forsman, E., Lemmela, S., Varilo, T., Kristo, P., Forsius, H., Sankila, E. M. et al. The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study. Mol. Vis. 9, 217\u2013222 (2003).","journal-title":"Mol. Vis."},{"key":"BFjhg200928_CR14","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1086\/301904","volume":"63","author":"JR O\u2019Connell","year":"1998","unstructured":"O\u2019Connell, J. R. & Weeks, D. E. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am. J. Hum. Genet. 63, 259\u2013266 (1998).","journal-title":"Am. J. Hum. Genet."},{"issue":"Suppl 1","key":"BFjhg200928_CR15","doi-asserted-by":"publisher","first-page":"S36","DOI":"10.1002\/1098-2272(2000)19:1+<::AID-GEPI6>3.0.CO;2-M","volume":"19","author":"NM Laird","year":"2000","unstructured":"Laird, N. M., Horvath, S. & Xu, X. Implementing a unified approach to family-based tests of association. Genet. Epidemiol. 19 (Suppl 1), S36\u2013S42 (2000).","journal-title":"Genet. Epidemiol."},{"key":"BFjhg200928_CR16","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1038\/sj.ejhg.5200625","volume":"9","author":"S Horvath","year":"2001","unstructured":"Horvath, S., Xu, X. & Laird, N. M. The family based association test method: strategies for studying general genotype\u2013phenotype associations. Eur. J. Hum. Genet. 9, 301\u2013306 (2001).","journal-title":"Eur. J. Hum. Genet."},{"key":"BFjhg200928_CR17","first-page":"460","volume":"36","author":"GM Lathrop","year":"1984","unstructured":"Lathrop, G. M. & Lalouel, J. M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36, 460\u2013465 (1984).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg200928_CR18","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1002\/gepi.1370030105","volume":"3","author":"GM Lathrop","year":"1986","unstructured":"Lathrop, G. M., Lalouel, J. M. & White, R. L. Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet. Epidemiol. 3, 39\u201352 (1986).","journal-title":"Genet. Epidemiol."},{"key":"BFjhg200928_CR19","first-page":"777","volume":"56","author":"JD Terwilliger","year":"1995","unstructured":"Terwilliger, J. D. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am. J. Hum. Genet. 56, 777\u2013787 (1995).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg200928_CR20","doi-asserted-by":"crossref","DOI":"10.56021\/9780801861406","volume-title":"Analysis of Human Genetic Linkage","author":"J Ott","year":"1999","unstructured":"Ott, J. Analysis of Human Genetic Linkage 3rd edn, (The Johns Hopkins University Press: Baltimore, MD, USA, 1999)."},{"issue":"Suppl 1","key":"BFjhg200928_CR21","doi-asserted-by":"publisher","first-page":"S189","DOI":"10.1093\/bioinformatics\/18.suppl_1.S189","volume":"18","author":"M Fishelson","year":"2002","unstructured":"Fishelson, M. & Geiger, D. Exact genetic linkage computations for general pedigrees. Bioinformatics 18 (Suppl 1), S189\u2013S198 (2002).","journal-title":"Bioinformatics"},{"key":"BFjhg200928_CR22","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1159\/000084736","volume":"59","author":"M Fishelson","year":"2005","unstructured":"Fishelson, M., Dovgolevsky, N. & Geiger, D. Maximum likelihood haplotyping for general pedigrees. Hum. Hered. 59, 41\u201360 (2005).","journal-title":"Hum. Hered."},{"key":"BFjhg200928_CR23","first-page":"857","volume":"14","author":"G Mossbock","year":"2008","unstructured":"Mossbock, G., Renner, W., Faschinger, C., Schmut, O., Wedrich, A. & Weger, M. Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. Mol. Vis. 14, 857\u2013861 (2008).","journal-title":"Mol. Vis."},{"key":"BFjhg200928_CR24","doi-asserted-by":"publisher","first-page":"1459","DOI":"10.1167\/iovs.07-1449","volume":"49","author":"F Pasutto","year":"2008","unstructured":"Pasutto, F., Krumbiegel, M., Mardin, C. Y., Paoli, D., Lammer, R., Weber, B. H. et al. Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest. Ophthalmol. Vis. Sci. 49, 1459\u20131463 (2008).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"BFjhg200928_CR25","first-page":"533","volume":"14","author":"JA Aragon-Martin","year":"2008","unstructured":"Aragon-Martin, J. A., Ritch, R., Liebmann, J., O\u2019Brien, C., Blaaow, K., Mercieca, F. et al. Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. Mol. Vis. 14, 533\u2013541 (2008).","journal-title":"Mol. Vis."},{"key":"BFjhg200928_CR26","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/1471-2350-9-5","volume":"9","author":"BJ Fan","year":"2008","unstructured":"Fan, B. J., Pasquale, L., Grosskreutz, C. L., Rhee, D., Chen, T., Deangelis, M. M. et al. DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med. Genet. 9, 5 (2008).","journal-title":"BMC Med. Genet."},{"key":"BFjhg200928_CR27","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1016\/j.ajo.2007.09.034","volume":"144","author":"JH Fingert","year":"2007","unstructured":"Fingert, J. H., Alward, W. L., Kwon, Y. H., Wang, K., Streb, L. M., Sheffield, V. C. et al. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am. J. Ophthalmol. 144, 974\u2013975 (2007).","journal-title":"Am. J. Ophthalmol."},{"key":"BFjhg200928_CR28","first-page":"146","volume":"14","author":"P Challa","year":"2008","unstructured":"Challa, P., Schmidt, S., Liu, Y., Qin, X., Vann, R. R., Gonzalez, P. et al. Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma. Mol. Vis. 14, 146\u2013149 (2008).","journal-title":"Mol. Vis."},{"key":"BFjhg200928_CR29","doi-asserted-by":"publisher","first-page":"521","DOI":"10.4161\/cc.7.4.5388","volume":"7","author":"X Yang","year":"2008","unstructured":"Yang, X., Zabriskie, N. A., Hau, V. S., Chen, H., Tong, Z., Gibbs, D. et al. Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort. Cell Cycle 7, 521\u2013524 (2008).","journal-title":"Cell Cycle"},{"key":"BFjhg200928_CR30","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1093\/hmg\/ddm342","volume":"17","author":"AW Hewitt","year":"2008","unstructured":"Hewitt, A. W., Sharma, S., Burdon, K. P., Wang, J. J., Baird, P. N., Dimasi, D. P. et al. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum. Mol. Genet. 17, 710\u2013716 (2008).","journal-title":"Hum. Mol. Genet."},{"key":"BFjhg200928_CR31","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1016\/j.ajo.2007.10.023","volume":"145","author":"H Hayashi","year":"2008","unstructured":"Hayashi, H., Gotoh, N., Ueda, Y., Nakanishi, H. & Yoshimura, N. Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. Am. J. Ophthalmol. 145, 582\u2013585 (2008).","journal-title":"Am. J. Ophthalmol."},{"key":"BFjhg200928_CR32","doi-asserted-by":"publisher","first-page":"3976","DOI":"10.1167\/iovs.08-1805","volume":"49","author":"M Ozaki","year":"2008","unstructured":"Ozaki, M., Lee, K. Y., Vithana, E. N., Yong, V. H., Thalamuthu, A. & Mizoguchi, T. et al. Association of LOXL1 gene polymorphisms with pseudoexfoliation in the Japanese. Invest. Ophthalmol. Vis. Sci. 49, 3976\u20133980 (2008).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"BFjhg200928_CR33","first-page":"1037","volume":"14","author":"K Mori","year":"2008","unstructured":"Mori, K., Imai, K., Matsuda, A., Ikeda, Y., Naruse, S., Hitora-Takeshita, H. et al. LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. Mol. Vis. 14, 1037\u20131040 (2008).","journal-title":"Mol. Vis."},{"key":"BFjhg200928_CR34","first-page":"1338","volume":"14","author":"N Fuse","year":"2008","unstructured":"Fuse, N., Miyazawa, A., Nakazawa, T., Mengkegale, M., Otomo, T. & Nishida, K. Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. Mol. Vis. 14, 1338\u20131343 (2008).","journal-title":"Mol. Vis."},{"key":"BFjhg200928_CR35","first-page":"1303","volume":"14","author":"F Mabuchi","year":"2008","unstructured":"Mabuchi, F., Sakurada, Y., Kashiwagi, K., Yamagata, Z., Iijima, H. & Tsukahara, S. Lysyl oxidase-like 1 gene polymorphisms in Japanese patients with primary open angle glaucoma and exfoliation syndrome. Mol. Vis. 14, 1303\u20131308 (2008).","journal-title":"Mol. Vis."},{"key":"BFjhg200928_CR36","first-page":"318","volume":"14","author":"VL Ramprasad","year":"2008","unstructured":"Ramprasad, V. L., George, R., Soumittra, N., Sharmila, F., Vijaya, L. & Kumaramanickavel, G. Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India. Mol. Vis. 14, 318\u2013322 (2008).","journal-title":"Mol. Vis."},{"key":"BFjhg200928_CR37","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1038\/nrg1521","volume":"6","author":"JN Hirschhorn","year":"2005","unstructured":"Hirschhorn, J. N. & Daly, M. J. Genome-wide association studies for common diseases and complex traits. Nat. Rev. Genet. 6, 95\u2013108 (2005).","journal-title":"Nat. Rev. Genet."},{"key":"BFjhg200928_CR38","doi-asserted-by":"publisher","first-page":"2343","DOI":"10.1167\/iovs.07-1557","volume":"49","author":"S Chakrabarti","year":"2008","unstructured":"Chakrabarti, S., Rao, K. N., Kaur, I., Parikh, R. S., Mandal, A. K., Chandrasekhar, G. et al. The LOXL1 gene variations are not associated with primary open angle and primary angle closure glaucomas. Invest. Ophthalmol. Vis. Sci. 49, 2343\u20132347 (2008).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"BFjhg200928_CR39","doi-asserted-by":"publisher","first-page":"3465","DOI":"10.1167\/iovs.08-1850","volume":"49","author":"Y Liu","year":"2008","unstructured":"Liu, Y., Schmidt, S., Qin, X., Gibson, J. R., Hutchins, K., Santiago-Turla, C. et al. Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. Invest. Ophthalmol. Vis. Sci. 49, 3465\u20133468 (2008).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"BFjhg200928_CR40","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/j.clinbiochem.2005.11.001","volume":"39","author":"BJ Fan","year":"2006","unstructured":"Fan, B. J., Wang, D. Y., Lam, D. S. & Pang, C. P. Gene mapping for primary open angle glaucoma. Clin. Biochem. 39, 249\u2013258 (2006).","journal-title":"Clin. Biochem."},{"key":"BFjhg200928_CR41","doi-asserted-by":"publisher","first-page":"3742","DOI":"10.1167\/iovs.05-0249","volume":"46","author":"M Zenkel","year":"2005","unstructured":"Zenkel, M., Poschl, E., von der Mark, K., Hofmann-Rummelt, C., Naumann, G. O., Kruse, F. E. et al. Differential gene expression in pseudoexfoliation syndrome. Invest. Ophthalmol. Vis. Sci. 46, 3742\u20133752 (2005).","journal-title":"Invest. Ophthalmol. Vis. Sci."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200928.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200928","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200928.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T10:16:39Z","timestamp":1710238599000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200928"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4,3]]},"references-count":41,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,5]]}},"alternative-id":["BFjhg200928"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2009.28","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4,3]]}}}