Correlation between XXXX status and @entity9595 (codon @entity14399 ) in a large German population.

@entity1 @entity14398 @entity82 @entity462 @entity68 @entity409 @entity69 @entity14399 @entity157 @entity669 @entity9595
BACKGROUND: @entity9595 leads to @entity68 overload in many tissues and may lead to liver @entity82 and @entity157 . Early diagnosis and therapy are crucial. Since 80-100% of @entity9595 @entity1 of European origin are homozygous for a @entity462 to @entity669 exchange in the @entity14398 gene at codon 282, genetic screening might be useful. Representative population studies are needed to evaluate the phenotype of @entity1 heterozygous and homozygous for the @entity14399 mutation. OBJECTIVE: To determine the correlation between parameters of @entity68 metabolism and the @entity9595 genotype in a large population-based study. METHODS: A representative population-based survey, the Diabetomobil study, analyzed 5,083 German probands. Serum @entity69 saturation and ferritin levels were determined, and the @entity14399 mutation of the @entity14398 gene was analyzed by restriction fragment length polymorphism-polymerase chain reaction analysis. RESULTS: Nine of 373 probands with a @entity69 saturation > 55% (2.4%) and none of 264 randomly selected probands with a @entity69 saturation < or = 55% (0%) were homozygous for the @entity14399 mutation. Three of the nine homozygous probands had ferritin values less than 250 micrograms/L. The frequency of the heterozygous genotype was 8.8%, and the percentage of heterozygous probands increased with increasing levels of @entity69 saturation. CONCLUSION: We propose a population screening strategy with an initial @entity69 saturation test, followed by genotyping for the @entity14399 mutation if the @entity69 saturation is above 55%, regardless of the ferritin level. Heterozygous individuals with higher @entity69 saturation values may be protected against @entity68 loss but may also be more susceptible for certain @entity409 , depending on the simultaneous prevalence of other diseases.
