The hypothesis that heterozygous carriers of genes for certain autosomal recessive syndromes may be predisposed to diabetes was tested by comparing diabetes incidence from age 20 to 69 yr in blood relatives to that in spouse controls among 7999 adult family members of patients with one of five autosomal recessive syndromes: ataxia-telangiectasia (A-T), Fanconi anemia (FA), xeroderma pigmentosum (XP), common variable immune deficiency (CVID), and severe combined immune deficiency (SCID). FA and A-T families were studied because earlier findings in family members and the frequency of diabetes in homozygotes suggested that heterozygotes might also be predisposed to diabetes. The XP, CVID, and SCID families were included to see what analysis of family data would reveal when there was no prior evidence for a gene-diabetes association. The diabetes rate ratios of 2.6 and 4.2 among FA and SCID females, respectively, were significantly elevated. For female FA heterozygotes specifically, the estimated relative risk of 5.1 for developing diabetes was also significantly elevated. Among males, the most pronounced, although not statistically significant, findings were an elevated rate ratio of 2.2 for A-T males and a low-rate ratio of 0.5 for CVID males. The results suggest that heterozygotes for some of the diabetes-associated autosomal recessive syndromes may themselves be predisposed to diabetes.
Diabetes Mellitus in Ataxia-Telangiectasia, Fanconi Anemia, Xeroderma Pigmentosum, Common Variable Immune Deficiency, and Severe Combined Immune Deficiency Families
- Views Icon Views
- Share Icon Share
Daphne Morrell, Charles L Chase, Lawrence L Kupper, Michael Swift; Diabetes Mellitus in Ataxia-Telangiectasia, Fanconi Anemia, Xeroderma Pigmentosum, Common Variable Immune Deficiency, and Severe Combined Immune Deficiency Families. Diabetes 1 February 1986; 35 (2): 143–147. https://doi.org/10.2337/diab.35.2.143
Download citation file: