{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T10:46:07Z","timestamp":1761821167348},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,2,15]]},"DOI":"10.1093\/hmg\/ddi051","type":"journal-article","created":{"date-parts":[[2005,1,14]],"date-time":"2005-01-14T01:18:03Z","timestamp":1105665483000},"page":"543-553","source":"Crossref","is-referenced-by-count":86,"title":["Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease"],"prefix":"10.1093","volume":"14","author":[{"given":"Miguel L.","family":"Soares","sequence":"first","affiliation":[]},{"given":"Teresa","family":"Coelho","sequence":"additional","affiliation":[]},{"given":"Alda","family":"Sousa","sequence":"additional","affiliation":[]},{"given":"Serge","family":"Batalov","sequence":"additional","affiliation":[]},{"given":"Isabel","family":"Concei\u00e7\u00e3o","sequence":"additional","affiliation":[]},{"given":"Maria L.","family":"Sales-Lu\u00eds","sequence":"additional","affiliation":[]},{"given":"Marylyn D.","family":"Ritchie","sequence":"additional","affiliation":[]},{"given":"Scott M.","family":"Williams","sequence":"additional","affiliation":[]},{"given":"Caroline M.","family":"Nievergelt","sequence":"additional","affiliation":[]},{"given":"Nicholas J.","family":"Schork","sequence":"additional","affiliation":[]},{"given":"Maria Jo\u00e3o","family":"Saraiva","sequence":"additional","affiliation":[]},{"given":"Joel N.","family":"Buxbaum","sequence":"additional","affiliation":[]}],"member":"286","published-online":{"date-parts":[[2005,1,13]]},"reference":[{"key":"key\n\t\t\t\t20171011170101_DDI051C1","doi-asserted-by":"crossref","unstructured":"Westermark, P., Sletten, K., Johansson, B. and Cornwell, G.G. III ( 1990 ) Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc. Natl Acad. Sci. USA , 87 , 2843 \u20132845.","DOI":"10.1073\/pnas.87.7.2843"},{"key":"key\n\t\t\t\t20171011170101_DDI051C2","doi-asserted-by":"crossref","unstructured":"Andrade, C. ( 1952 ) A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain , 75 , 408 \u2013427.","DOI":"10.1093\/brain\/75.3.408"},{"key":"key\n\t\t\t\t20171011170101_DDI051C3","doi-asserted-by":"crossref","unstructured":"Saraiva, M.J.M., Birken, S., Costa, P.P. and Goodman, D.S. ( 1984 ) Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type: definition of molecular abnormality in transthyretin (prealbumin). J. Clin. Invest. , 74 , 104 \u2013119.","DOI":"10.1172\/JCI111390"},{"key":"key\n\t\t\t\t20171011170101_DDI051C4","doi-asserted-by":"crossref","unstructured":"de Carvalho, M., Moreira, P., Evangelista, T., Ducla-Soares, J.L., Bento, M., Fernandes, R. and Saraiva, M.J. ( 2000 ) New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy. Muscle Nerve , 23 , 1016 \u20131021.","DOI":"10.1002\/1097-4598(200007)23:7<1016::AID-MUS3>3.0.CO;2-W"},{"key":"key\n\t\t\t\t20171011170101_DDI051C5","doi-asserted-by":"crossref","unstructured":"Dwulet, F.E. and Benson, M.D. ( 1984 ) Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin. Proc. Natl Acad. Sci. USA , 81 , 694 \u2013698.","DOI":"10.1073\/pnas.81.3.694"},{"key":"key\n\t\t\t\t20171011170101_DDI051C6","doi-asserted-by":"crossref","unstructured":"Tawara, S., Nakazato, M., Kangawa, K., Matsuo, H. and Araki, S. ( 1983 ) Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem. Biophys. Res. Commun. , 116 , 880 \u2013888.","DOI":"10.1016\/S0006-291X(83)80224-1"},{"key":"key\n\t\t\t\t20171011170101_DDI051C7","doi-asserted-by":"crossref","unstructured":"Buxbaum, J.N. and Tagoe, C.E. ( 2000 ) The genetics of the amyloidoses. Annu. Rev. Med. , 51 , 543 \u2013569.","DOI":"10.1146\/annurev.med.51.1.543"},{"key":"key\n\t\t\t\t20171011170101_DDI051C8","doi-asserted-by":"crossref","unstructured":"Sousa, A., Andersson, R., Drugge, U., Holmgren, G. and Sandgren, O. ( 1993 ) Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum. Hered. , 43 , 288 \u2013294.","DOI":"10.1159\/000154146"},{"key":"key\n\t\t\t\t20171011170101_DDI051C9","doi-asserted-by":"crossref","unstructured":"Sousa, A., Coelho, T., Lobato, L. and Sequeiros, J. ( 1995 ) Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in P\u00f3voa do Varzim and Vila do Conde (North of Portugal). Am. J. Med. Genet. , 60 , 512 \u2013521.","DOI":"10.1002\/ajmg.1320600606"},{"key":"key\n\t\t\t\t20171011170101_DDI051C10","doi-asserted-by":"crossref","unstructured":"Ikeda, S., Nakazato, M., Ando, Y. and Sobue, G. ( 2002 ) Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity. Neurology , 58 , 1001 \u20131007.","DOI":"10.1212\/WNL.58.7.1001"},{"key":"key\n\t\t\t\t20171011170101_DDI051C11","doi-asserted-by":"crossref","unstructured":"Sequeiros, J. and Saraiva, M.J.M. ( 1987 ) Onset in the seventh decade and lack of symptoms in heterozygotes for the TTR Met30 mutation in hereditary amyloid neuropathy-type I (Portuguese, Andrade). Am. J. Med. Genet. , 27 , 345 \u2013357.","DOI":"10.1002\/ajmg.1320270213"},{"key":"key\n\t\t\t\t20171011170101_DDI051C12","doi-asserted-by":"crossref","unstructured":"Coelho, T., Sousa, A., Lourenco, E. and Ramalheira, J. ( 1994 ) A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected. J. Med. Genet. , 31 , 293 \u2013299.","DOI":"10.1136\/jmg.31.4.293"},{"key":"key\n\t\t\t\t20171011170101_DDI051C13","unstructured":"Sousa, A. ( 1995 ) Phenotypic Variability in Familial Amyloidotic Polyneuropathy: A Study of Quantitative Genetics in Portugal and Sweden. PhD Thesis, University of Porto, Portugal."},{"key":"key\n\t\t\t\t20171011170101_DDI051C14","doi-asserted-by":"crossref","unstructured":"Soares, M., Buxbaum, J., Sirugo, G., Coelho, T., Sousa, A., Kastner, D. and Saraiva, M.J. ( 1999 ) Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions. Hum. Genet. , 104 , 480 \u2013485.","DOI":"10.1007\/s004390050991"},{"key":"key\n\t\t\t\t20171011170101_DDI051C15","doi-asserted-by":"crossref","unstructured":"Kisilevsky, R. ( 2000 ) The relation of proteoglycans, serum amyloid P and apo E to amyloidosis current status, 2000. Amyloid , 7 , 23 \u201325.","DOI":"10.3109\/13506120009146820"},{"key":"key\n\t\t\t\t20171011170101_DDI051C16","doi-asserted-by":"crossref","unstructured":"Corder, E.H., Saunders, A.M., Strittmatter, W.J., Schmechel, D.E., Gaskell, P.C., Small, G.W., Roses, A.D., Haines, J.L. and Pericak-Vance, M.A. ( 1993 ) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science , 261 , 921 \u2013923.","DOI":"10.1126\/science.8346443"},{"key":"key\n\t\t\t\t20171011170101_DDI051C17","doi-asserted-by":"crossref","unstructured":"Satoh, S., Tokuda, T., Ikeda, S., Sekijima, Y., Yanagisawa, N., Hidaka, H. and Kametani, F. ( 1996 ) No association between apolipoprotein E4 allele and the age of onset in type I familial amyloid polyneuropathy. Neurosci. Lett. , 204 , 209 \u2013211.","DOI":"10.1016\/0304-3940(96)12344-2"},{"key":"key\n\t\t\t\t20171011170101_DDI051C18","unstructured":"Westermark, P., Pitk\u00e4nen, P., Benson, L., Vahlquist, A., Olofsson, B.O. and Cornwell, G.G. III ( 1985 ) Serum prealbumin and retinol-binding protein in the prealbumin-related senile and familial forms of systemic amyloidosis. Lab. Invest. , 52 , 314 \u2013318."},{"key":"key\n\t\t\t\t20171011170101_DDI051C19","doi-asserted-by":"crossref","unstructured":"White, J.T., Kelly, J.W. ( 2001 ) Support for the multigenic hypothesis of amyloidosis: the binding stoichiometry of retinol-binding protein, vitamin A, and thyroid hormone influences transthyretin amyloidogenicity in vitro . Proc. Natl Acad. Sci. USA , 98 , 13019 \u201313024.","DOI":"10.1073\/pnas.241406698"},{"key":"key\n\t\t\t\t20171011170101_DDI051C20","doi-asserted-by":"crossref","unstructured":"Cazeneuve, C., Ajrapetyan, H., Papin, S., Roudot-Thoraval, F., Genevieve, D., Mndjoyan, E., Papazian, M., Sarkisian, A., Babloyan, A., Boissier, B. et\u00a0al. ( 2000 ) Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am. J. Hum. Genet. , 67 , 1136 \u20131143.","DOI":"10.1016\/S0002-9297(07)62944-9"},{"key":"key\n\t\t\t\t20171011170101_DDI051C21","doi-asserted-by":"crossref","unstructured":"Hansen, P.M., Chowdhury, T., Deckert, T., Hellgren, A., Bain, S.C. and Pociot, F. ( 1997 ) Genetic variation of the heparan sulfate proteoglycan gene (perlecan gene). Association with urinary albumin excretion in IDDM patients. Diabetes , 46 , 1658 \u20131659.","DOI":"10.2337\/diacare.46.10.1658"},{"key":"key\n\t\t\t\t20171011170101_DDI051C22","doi-asserted-by":"crossref","unstructured":"Bullido, M.J., Artiga, M.J., Recuero, M., Sastre, I., Garcia, M.A., Aldudo, J., Lendon, C., Han, S.W., Morris, J.C., Frank, A. et\u00a0al. ( 1998 ) A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia. Nat. Genet. , 18 , 69 \u201371.","DOI":"10.1038\/ng0198-69"},{"key":"key\n\t\t\t\t20171011170101_DDI051C23","doi-asserted-by":"crossref","unstructured":"Mantzouranis, E.C., Dowton, S.B., Whitehead, A.S., Edge, M.D., Bruns, G.A. and Colten, H.R. ( 1985 ) Human serum amyloid P component. cDNA isolation, complete sequence of pre-serum amyloid P component, and localization of the gene to chromosome 1. J. Biol. Chem. , 260 , 7752 \u20137756.","DOI":"10.1016\/S0021-9258(17)39671-0"},{"key":"key\n\t\t\t\t20171011170101_DDI051C24","unstructured":"Lewis, P.O. and Zaykin, D. ( 2001 ) Genetic Data Analysis: Computer program for the analysis of allelic data. Version 1.0 (d16c)."},{"key":"key\n\t\t\t\t20171011170101_DDI051C25","unstructured":"Weir, B.S. ( 1996 ) Genetic Data Analysis II. Sinauer Associates, Sunderland, MA."},{"key":"key\n\t\t\t\t20171011170101_DDI051C26","doi-asserted-by":"crossref","unstructured":"Williams, S.M., Addy, J.H., Phillips J.A., III, Dai, M., Kpodonu, J., Afful, J., Jackson, H., Joseph, K., Eason, F., Murray, M.M. et\u00a0al. ( 2000 ). Combinations of variations in multiple genes are associated with hypertension. Hypertension , 36 , 2 \u20136.","DOI":"10.1161\/01.HYP.36.1.2"},{"key":"key\n\t\t\t\t20171011170101_DDI051C27","doi-asserted-by":"crossref","unstructured":"Ritchie, M.D., Hahn, L.W., Roodi, N., Bailey, L.R., Dupont, W.D., Parl, F.F. and Moore, J.H. ( 2001 ) Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am. J. Hum. Genet. , 69 , 138 \u2013147.","DOI":"10.1086\/321276"},{"key":"key\n\t\t\t\t20171011170101_DDI051C28","doi-asserted-by":"crossref","unstructured":"Ritchie, M.D., Hahn, L.W. and Moore, J.H. ( 2003 ) Power of multifactor dimensionality reduction for detecting gene\u2013gene interactions in the presence of genotyping error, missing data, phenocopy, and genetic heterogeneity. Genet. Epidemiol. , 24 , 150 \u2013157.","DOI":"10.1002\/gepi.10218"},{"key":"key\n\t\t\t\t20171011170101_DDI051C29","doi-asserted-by":"crossref","unstructured":"Hahn, L.W., Ritchie, M.D. and Moore, J.H. ( 2003 ) Multifactor dimensionality reduction software for detecting gene\u2013gene and gene\u2013environment interactions. Bioinformatics , 19 , 376 \u2013382.","DOI":"10.1093\/bioinformatics\/btf869"},{"key":"key\n\t\t\t\t20171011170101_DDI051C30","doi-asserted-by":"crossref","unstructured":"Soares, M.L., Coelho, T., Sousa, A., Holmgren, G., Saraiva, M.J., Kastner, D.L. and Buxbaum, J.N. ( 2004 ) Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype\u2014phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. Eur. J. Hum. Genet. , 12 , 225 \u2013237.","DOI":"10.1038\/sj.ejhg.5201095"},{"key":"key\n\t\t\t\t20171011170101_DDI051C31","unstructured":"Sinnock, P. and Sing, C.F. ( 1972 ) Analysis of multilocus genetic systems in Tecumseh, Michigan. I. Definition of the data set and tests for goodness-of-fit to expectations based on gene, gamete, and single-locus phenotype frequencies. Am. J. Hum. Genet. , 24 , 381 \u2013392."},{"key":"key\n\t\t\t\t20171011170101_DDI051C32","doi-asserted-by":"crossref","unstructured":"Hernandez, J.L., Elston, R.C. and Ward, L.J. ( 1990 ) Gametic equilibrium between 24 polymorphic markers. Hum. Genet. , 85 , 343 \u2013348.","DOI":"10.1007\/BF00206759"},{"key":"key\n\t\t\t\t20171011170101_DDI051C33","doi-asserted-by":"crossref","unstructured":"Moore, J.H. and Williams, S.M. ( 2002 ) New strategies for identifying gene\u2013gene interactions in hypertension. Ann. Med. , 34 , 88 \u201395.","DOI":"10.1080\/07853890252953473"},{"key":"key\n\t\t\t\t20171011170101_DDI051C34","doi-asserted-by":"crossref","unstructured":"Dipple, K.M. and McCabe, E.R. ( 2000 ) Phenotypes of patients with \u2018simple\u2019 Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. , 66 , 1729 \u20131735.","DOI":"10.1086\/302938"},{"key":"key\n\t\t\t\t20171011170101_DDI051C35","doi-asserted-by":"crossref","unstructured":"Tesson, F., Dufour, C., Moolman, J.C., Carrier, L., al Mahdawi, S., Chojnowska, L., Dubourg, O., Soubrier, E., Brink, P., Komajda, M. et\u00a0al. ( 1997 ) The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. J. Mol. Cell Cardiol. , 29 , 831 \u2013838.","DOI":"10.1006\/jmcc.1996.0332"},{"key":"key\n\t\t\t\t20171011170101_DDI051C36","doi-asserted-by":"crossref","unstructured":"Almeida, M.R., Alves, I.L., Sakaki, Y., Costa, P.P. and Saraiva, M.J.M. ( 1990 ) Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30. Hum. Genet. , 85 , 623 \u2013626.","DOI":"10.1007\/BF00193586"},{"key":"key\n\t\t\t\t20171011170101_DDI051C37","doi-asserted-by":"crossref","unstructured":"Hixson, J.E. and Vernier, D.T. ( 1990 ) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J. Lipid Res. , 31 , 545 \u2013548.","DOI":"10.1016\/S0022-2275(20)43176-1"},{"key":"key\n\t\t\t\t20171011170101_DDI051C38","doi-asserted-by":"crossref","unstructured":"Moriguchi, M., Terai, C., Koseki, Y., Uesato, M., Nakajima, A., Inada, S., Nishinarita, M., Uchida, S., Nakajima, A., Kim, S.Y. et\u00a0al. ( 1999 ) Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis. Hum. Genet. , 105 , 360 \u2013366.","DOI":"10.1007\/s004399900150"},{"key":"key\n\t\t\t\t20171011170101_DDI051C39","unstructured":"Clark, A.G. ( 1990 ) Inference of haplotypes from PCR-amplified samples of diploid populations. Mol. Biol. Evol. , 7 , 111 \u2013122."},{"key":"key\n\t\t\t\t20171011170101_DDI051C40","unstructured":"Miller, M.P. ( 1997 ) Tools for Population Genetics Analyses (TFPGA 1.3): A Windows Program for the Analysis of Allozyme and Molecular Genetic Data (Distributed by the author)."},{"key":"key\n\t\t\t\t20171011170101_DDI051C41","doi-asserted-by":"crossref","unstructured":"Raymond, M. and Rousset, F. ( 1995 ) An exact test for population differentiation. Evolution , 49 , 1280 \u20131283.","DOI":"10.1111\/j.1558-5646.1995.tb04456.x"},{"key":"key\n\t\t\t\t20171011170101_DDI051C42","doi-asserted-by":"crossref","unstructured":"Sham, P.C. and Curtis, D. ( 1995 ) Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann. Hum. Genet. , 59 , 97 \u2013105.","DOI":"10.1111\/j.1469-1809.1995.tb01608.x"},{"key":"key\n\t\t\t\t20171011170101_DDI051C43","unstructured":"Schneider, S, Roessli, D and Excoffier, L. ( 2000 ) ARLEQUIN ver 2.000: A Software for Population Genetics Data Analysis."},{"key":"key\n\t\t\t\t20171011170101_DDI051C44","doi-asserted-by":"crossref","unstructured":"Lynch, M. and Ritland, K. ( 1999 ) Estimation of pairwise relatedness with molecular markers. Genetics , 152 , 1753 \u20131766.","DOI":"10.1093\/genetics\/152.4.1753"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/14\/4\/543\/6949447\/ddi051.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,4]],"date-time":"2021-07-04T01:12:50Z","timestamp":1625361170000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/14\/4\/543\/2355841\/Susceptibility-and-modifier-genes-in-Portuguese"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,13]]},"references-count":44,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2005,1,13]]},"published-print":{"date-parts":[[2005,2,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddi051","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2005,2,15]]},"published":{"date-parts":[[2005,1,13]]}}}