{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:30:14Z","timestamp":1762673414076},"reference-count":51,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,9,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Disease genes may be identified through functional,\npositional, and candidate gene approaches. Although\nextensive and often labor-intensive studies such as\nfamily linkage analysis, functional investigation of\ngene products and genome database searches are\nusually involved, thousands of human disease genes,\nespecially for monogenic diseases with Mendelian\ntransmission, have been identified. However, in diseases\ncaused by more than one gene, or by a combination\nof genetic and environmental factors, identification\nof the genes is even more difficult. Common\nexamples include atherosclerosis, cancer, Alzheimer's\ndisease, asthma, diabetes, glaucoma, and age-related\nmacular degeneration. There have been conflicting reports\non the roles of associated genes. Even with population-based case-control studies and new statistical\nmethods such as the sib-ship disequilibrium test and\nthe discordant alleles test, there is no agreement\non whether \u03b1<jats:sub>2<\/jats:sub>-macroglobulin (<jats:italic>A2M<\/jats:italic>) is a gene for Alzheimer's\ndisease. Another example is the inconsistent\nassociation between age-related macular degeneration\nand ATP-binding cassette transporter (<jats:italic>ABCR<\/jats:italic>).\nEthnic variation causes further complications. In our\ninvestigation of <jats:italic>LDL-receptor<\/jats:italic> variants in familial hypercholesterolemia,\nand the trabecular meshwork inducible\nglucocorticoid response protein, or myocillin\n(<jats:italic>TIGR-MYOC<\/jats:italic>) mutation pattern in primary open angle\nglaucoma, we did find dissimilar results in Chinese\ncompared to Caucasians. New information from the\nHuman Genome Project and advancements in technologies\nwill aid the search for and confirm identification\nof disease genes despite such challenges.<\/jats:p>","DOI":"10.1515\/cclm.2000.118","type":"journal-article","created":{"date-parts":[[2004,10,22]],"date-time":"2004-10-22T10:39:26Z","timestamp":1098441566000},"page":"819-825","source":"Crossref","is-referenced-by-count":10,"title":["Hunting for Disease Genes in Multi-Functional Diseases"],"prefix":"10.1515","volume":"38","author":[{"given":"Chi-Pui","family":"Pang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larry","family":"Baum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dennis S. 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