{"entity": "journal", "iuid": "47757ceabbc844e3a2cc3ac84498af3b", "timestamp": "2026-10-08T10:52:20.750Z", "links": {"self": {"href": "https://publications.scilifelab.se/journal/Human%20Mutation.json"}, "display": {"href": "https://publications.scilifelab.se/journal/Human%20Mutation"}}, "title": "Human Mutation", "issn": "1059-7794", "issn-l": "1059-7794", "publications_count": 1, "publications": [{"entity": "publication", "iuid": "dda66f63a7244599ba409cca419b8f75", "links": {"self": {"href": "https://publications.scilifelab.se/publication/dda66f63a7244599ba409cca419b8f75.json"}, "display": {"href": "https://publications.scilifelab.se/publication/dda66f63a7244599ba409cca419b8f75"}}, "title": "Genome-wide and gene-based association implicates FRMD6 in alzheimer disease", "authors": [{"family": "Hong", "given": "Mun Gwan", "initials": "MG"}, {"family": "Reynolds", "given": "Chandra A", "initials": "CA"}, {"family": "Feldman", "given": "Adina L", "initials": "AL"}, {"family": "Kallin", "given": "Mikael", "initials": "M"}, {"family": "Lambert", "given": "Jean Charles", "initials": "JC"}, {"family": "Amouyel", "given": "Philippe", "initials": "P"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Pedersen", "given": "Nancy L", "initials": "NL"}, {"family": "Prince", "given": "Jonathan A", "initials": "JA"}], "type": "journal-article", "published": "2012-03-00", "journal": {"volume": "33", "issn": "1059-7794", "issue": "3", "pages": "521-529", "title": "Human Mutation", "issn-l": "1059-7794"}, "abstract": "Genome-wide association studies (GWAS) that allow for allelic heterogeneity may facilitate the discovery of novel genes not detectable by models that require replication of a single variant site. One strategy to accomplish this is to focus on genes rather than markers as units of association, and so potentially capture a spectrum of causal alleles that differ across populations. Here, we conducted a GWAS of Alzheimer disease (AD) in 2,586 Swedes and performed gene-based meta-analysis with three additional studies from France, Canada, and the United States, in total encompassing 4,259 cases and 8,284 controls. Implementing a newly designed gene-based algorithm, we identified two loci apart from the region around APOE that achieved study-wide significance in combined samples, the strongest finding being for FRMD6 on chromosome 14q (P = 2.6 \u00d7 10(-14)) and a weaker signal for NARS2 that is immediately adjacent to GAB2 on chromosome 11q (P = 7.8 \u00d7 10(-9)). Ontology-based pathway analyses revealed significant enrichment of genes involved in glycosylation. Results suggest that gene-based approaches that accommodate allelic heterogeneity in GWAS can provide a complementary avenue for gene discovery and may help to explain a portion of the missing heritability not detectable with single nucleotide polymorphisms (SNPs) derived from marker-specific meta-analysis.", "doi": "10.1002/humu.22009", "pmid": "22190428", "labels": {"National Genomics Infrastructure": null, "NGI Uppsala (SNP&SEQ Technology Platform)": null}, "xrefs": [{"db": "mid", "key": "NIHMS344656"}, {"db": "pmc", "key": "PMC3326347"}], "notes": [], "created": "2017-05-04T15:00:59.693Z", "modified": "2023-06-19T11:48:51.655Z"}], "created": "2017-10-17T09:44:01.979Z", "modified": "2020-11-27T13:14:00.834Z"}