These data strongly supported the notion of an FCHL gene on chromosome 1q.
The human RXRG gene is located in chromosome 1q21-q23, the so-called "FCHL locus" , so this gene is an interesting candidate for involvement in FCHL.
In this study we have searched for variations within the DNA sequence of the RXRG gene in subjects with FCHL phenotype and controls, and subsequently analysed their association with FCHL.
proposal to redefine familial combined hyperlipidemia-Third workshop on FCHL
. Eur J Clin Invest 2002; 32:71-73.
Among the FCHL families, there was a significant association between the APOAV marker and TG-related variables, but when adjusted for age, gender, body mass index, or diet, these associations were not significant in the control ESP group or the normolipidemic NL group (Table 1).
Altogether these data suggest that in FCHL families, carriers of at least one rare APOAV allele will have a 3.25-fold higher risk (95% confidence interval for the odds ratio, 1.10-9.65) of presenting with the hyperlipidemic phenotype.
We have also analyzed by means of AMOVA the interaction between APOAV and a marker of the apo C-III gene (APOCIII) with a significant TG-increasing effect in FCHL patients (C1100T; exon 3) (9) and detected a significant interaction (P = 0.012) between the two.
As part of a larger investigation into the inheritance of FCHL, 16 families diagnosed as having the disease were identified from the Lipid Clinic of the Hospital Universitari de Sant Joan in Reus (Spain).
None of their families met the criteria to be classified as FCHL.
Those members of FCHL families with a hyperlipidemic phenotype (n = 30) and the group of healthy control subjects (n = 56) were comparable with respect to age, BMI, and male/female proportion (Table 1).
Some studies have suggested that XmnI polymorphism is mainly associated with FCHL [17,18].
(5) Nonstandard abbreviations: apo, apolipoprotein; RFLP, restriction fragment length polymorphism; CAD, coronary artery disease; FCHL, familial combined hyperlipidemia; and PIC, polymorphism information content.