Carter, K.Hung, J.Powell, B.Wiltshire, S.Foo, B.Leow, Y.McQuillan, B.Jennens, M.McCaskie, P.Thompson, P.Beilby, J.Palmer, L.2014-10-312014-10-312008Human Genetics, 2008; 124(3):199-2060340-67171432-1203http://hdl.handle.net/2440/86844The objective of this study was to determine whether single nucleotide polymorphisms (SNPs) in the Interleukin-1 (IL-1) gene family are associated with central obesity and metabolic syndrome in a coronary heart disease population. The IL-1α C-889T (rs1800587) and IL-1β +3954 (rs1143634) SNPs were studied in a Western Australian coronary heart disease (CHD) population (N = 556). Subjects who were TT homozygous at either SNP had larger waist circumference (IL-1α: 1.8 cm greater, P = 0.04; IL-1β: 4 cm greater, P = 0.0004) compared with major allele homozygotes. Individuals with two copies of the IL-1α:IL-1β T:T haplotype had greater waist circumference (4.7 cm greater, P = 0.0001) compared to other haplotypes. There was a significant interaction between the IL-1β SNP and BMI level on waist circumference (P = 0.01). When the cohort was stratified by median BMI, TT carriers for IL-1β with above median BMI had greater waist circumference (6.1 cm greater, P = 0.007) compared to baseline carriers, whilst no significant association was seen in the below median group. Similarly, when the cohort was stratified by median fibrinogen level (IL-1α interaction P = 0.01; IL-1β interaction P = 0.04), TT carriers for both SNPs in the above median fibrinogen group had greater waist circumference (IL-1α 2.7 cm greater, P = 0.007; IL-1β 3.3 cm greater, P = 0.003) compared with major allele homozygotes. This association was not seen in the below median group. Also, we found a trend of increased metabolic syndrome for IL-1β TT homozygotes (P = 0.07). In conclusion, our findings suggest that in a CHD population IL-1 gene polymorphisms may be involved in increased central obesity, and the genetic influences are more evident among patients who have a higher level of obesity or inflammatory markers.en© Springer-Verlag 2008HumansCoronary DiseaseObesityInflammationFibrinogenInterleukin-1Body Mass IndexGenotypePolymorphism, Single NucleotideAllelesAdultMiddle AgedFemaleMaleMetabolic SyndromeJournal article002013666010.1007/s00439-008-0540-60002599095000012-s2.0-5374909177015495Palmer, L. [0000-0002-1628-3055]