Have to or may? Re: Expression of concern re: Kulminski AM (2011). Complex phenotypes and phenomenon of genome-wide inter-chromosomal linkage disequilibrium in the human genome. Exp Gerontol. 46, 979-986

摘要

Dear Sir,Indeed, genome-wide association studies (GWAS) focusing on unraveling SNP-phenotype associations typically follow recommended guidelines as outlined by Paterson in his letter of concern. These guidelines, particularly, suggest assessing the QQ and Manhattan plots, association statistics, quality control statistics, etc. for tests of individual SNPs with phenotype(s). The paper cited above, however, addresses a different research question, i.e., the question whether a phenomenon of the inter-chromosomal linkage disequilibrium (LD) observed in the Framingham Heart Study can be caused by fundamenta! bio-genetic mechanisms in the human genome and whether the LD phenomenon can be associated with complex, polygenic traits. The material is, therefore, presented according to the focus of this paper and addresses potential mechanisms which can generate inter-chromosomal LD among multiple SNPs rather than associations of individual SNPs with phenotype(s).