Rare variants in the @entity5523 ( @entity5523 ) gene are common in @entity2298 but rare in XXXX .

@entity1 @entity2298 @entity407 @entity21027 @entity535 @entity1674 @entity412 @entity5523
OBJECTIVE: Genomewide association studies (GWAS) have shown that variation in the @entity5523 ( @entity5523 ) is associated with plasma @entity412 levels but that common variants account for only 1.25% of the variance. The aim of this study was to determine the frequency of rare variants in the @entity5523 gene in @entity1 with various forms of @entity2298 . METHODS: The DNA sequence of the exons plus exon/intron boundaries of the @entity5523 gene of 313 @entity1 with @entity1674 above the 95th percentile for age and sex (107 of whom had @entity1674 above 875 mg/dl) and 121 @entity1 with @entity407 was determined. RESULTS: Twenty rare variants were detected of which seven have been previously reported. All of the rare variants were present as heterozygotes. Sixteen were missense mutations, two were short deletion mutants and there were single nonsense and insertion mutations. Fifteen of the missense mutations resulted in an @entity535 change. There were 13 @entity1 (12.1%) with @entity1674 above 875 mg/dl and 10 @entity1 (4.9%) with moderately elevated @entity1674 , who were carriers of at least one rare, non-synonymous mutation in the @entity5523 gene. Of the @entity1 with @entity21027 , two were carriers of rare variants. CONCLUSION: Rare mutations in the @entity5523 gene are frequent in @entity1 with elevated @entity1674 .
