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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Frequency of the T228A polymorphism in the SORBS1 gene in children with premature pubarche and in adolescent girls with hyperandrogenism.

OBJECTIVE: Because the metabolic actions of insulin are more impaired than the mitogenic pathways in polycystic ovary syndrome (PCOS), genes coding for proteins involved in insulin-mediated glucose transport can be considered as candidate genes. The sorbin and SH3-domain-containing-1 (SORBS1) gene codes for c-Cbl-associated protein (CAP) involved in insulin-mediated glucose uptake. An association study showed that a missense variant of the SORBS1 gene is protective against obesity and diabetes. We tested the hypothesis that the frequency of the protective allele would be decreased in children with premature pubarche and adolescent girls with hyperandrogenism. DESIGN: Association study. SETTING: Academic research environment. PATIENT(S): Children referred for the evaluation of premature pubarche (n = 79), adolescent girls with hyperandrogenism (n = 56), and healthy nondiabetic controls (n = 50). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Frequency of the T228A allele in our patients and the relationship of body mass index to presence or absence of the T228A variant in our patient population. RESULT(S): Using allele-specific restriction fragment length polymorphism, allele frequencies were found to be similar among the premature pubarche, hyperandrogenism, and control groups (6.0%, 4.6%, and 8.0%, respectively). No statistically significant relationships were found between the SORBS1 genotypes and body mass index or hormone status. CONCLUSION(S): This SORBS1 polymorphism does not play a major role in premature pubarche, hyperandrogenism, and/or polycystic ovary syndrome in our patient population.[1]


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