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SNP Haplotypes in the Angiotensin I‐Converting Enzyme ( ACE ) Gene: Analysis of Nigerian Family Data Using Gamete Competition Models
Author(s) -
McKenzie C. A.,
Sinsheimer J. S.,
Adeyemo A. A.,
Cox R. D.,
Southam L.,
Hugill A.,
Bouzekri N.,
Lathrop M.,
Forrester T. E.,
Cooper R. S.,
Ward R.
Publication year - 2005
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1469-1809.2004.00142.x
Subject(s) - gamete , biology , genetics , haplotype , gene , genotype , quantitative trait locus , locus (genetics) , allele , snp , single nucleotide polymorphism , sperm
Summary Gamete competition models were used to explore the relationships between 13 ACE gene polymorphisms and plasma ACE concentration in a set of Nigerian families. Several markers in the 5′ and 3′ regions of the gene were significantly associated with ACE concentration (P < 10 ‐4 ). Multi‐locus genotypes comprising different combinations of markers from the 5′ UTR and the 3′ region of the gene were also analysed; in addition to G2350A, in the 3′ region, two markers from the 5′ UTR (A‐5466C and A‐240T) were found to be associated with ACE concentration. These results are consistent with reports that have suggested the presence of at least two ACE‐linked QTLs, and demonstrate the utility of gamete competition models in the exploratory investigation of the relationship between a quantitative trait and multiple variants in a small genomic region.