Baier et al. (1995) found an association between insulin resistance and homozygosity or heterozygosity for the threonine-encoding allele among Pima Indians in Arizona.
Sipilainen et al. (1997) found that this polymorphism did not influence insulin levels or basal metabolic rate in obese Finns.
Carlsson et al. (2000) confirmed the association of the FABP2 thr54 allele with increased concentrations of cholesterol and triglycerides in genotype-discordant sib pairs and presented novel evidence that genetic variation in the FABP2 gene may increase susceptibility to stroke.
Georgopoulos et al. (2000) studied the ala54-to-thr (A54T) polymorphism of FABP2, which is associated with increased intestinal input of triglyceride, and concluded that their results support the hypothesis that, in type II diabetes (125853), increased intestinal input of triglyceride can lead to elevated fasting and postprandial plasma triglycerides.
Georgopoulos et al. (2002) concluded that in contrast to type II, type I diabetes (IDDM; 222100) does not interact with the codon 54 polymorphism of the FABP2 gene to cause hypertriglyceridemia/dyslipidemia.
Lara-Castro et al. (2005) examined the association between the A54T variant in the FABP2 gene and levels of visceral and subcutaneous abdominal fat in a group of 223 premenopausal women, 103 of whom were African-American and 120 Caucasian. The frequency of the 54T allele did not differ significantly by ethnic group. After adjusting for total body fat, total abdominal adipose tissue and subcutaneous abdominal fat were significantly lower in carriers of either 1 or 2 copies of the mutant thr allele (P less than 0.01). There was no association between total fat mass or visceral abdominal fat and the FABP2 polymorphism. Separate analyses by ethnic group showed that the association between the polymorphism and total abdominal fat and subcutaneous abdominal fat was observed in Caucasian (P less than 0.01), but not in African-American, women.
Formanack and Baier (2004) analyzed the promoter region of the FABP2 gene and identified 7 variations that were in complete concordance with each other and with the A54T variant in Pima Indians, but not in Caucasian subjects. The authors suggested that the phenotypic associations previously attributed to the A54T substitution, which alters binding characteristics of the protein, may instead be due to promoter variation, which alters expression levels.
