منابع مشابه
Common Genetic Variants of Surfactant Protein-D (SP-D) Are Associated with Type 2 Diabetes
CONTEXT Surfactant protein-D (SP-D) is a primordial component of the innate immune system intrinsically linked to metabolic pathways. We aimed to study the association of single nucleotide polymorphisms (SNPs) affecting SP-D with insulin resistance and type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS We evaluated a common genetic variant located in the SP-D coding region (rs721917, Met(31)T...
متن کاملGenetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
Background In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family's pathogenic variant. These families may have additional genetic variants, which not only may increase the susceptibility of the families' path_BRCA1/2, but also be capable of causing cancer in the absence of the path_BRCA1/2 variants. We aimed to ident...
متن کاملIdentification of New Genetic Risk Variants for Type 2 Diabetes
Although more than 20 genetic susceptibility loci have been reported for type 2 diabetes (T2D), most reported variants have small to moderate effects and account for only a small proportion of the heritability of T2D, suggesting that the majority of inter-person genetic variation in this disease remains to be determined. We conducted a multistage, genome-wide association study (GWAS) within the...
متن کاملImpact of Genetic Variants in Mir-122 Gene and its Flanking Regions on Hepatitis B Risk
MicroRNAs are small non coding RNAs that are involved in gene expression regulation. Mir-122 was reported to inhibit hepatitis B virus (HBV), but little is known about the role of mir-122 polymorphisms on HBV infection development. This present study aimed to investigate the association between single nucleotide polymorphisms (SNPs) in mir-122 gene region with HBV infection. Study cases were HB...
متن کاملNUDT15 genetic variants and 6-mercaptopurine intolerance in pediatric acute lymphoblastic leukemia: an updated review
Acute lymphoblastic leukemia (ALL) accounts for nearly 30% of pediatric cancers. The maintenance treatment for ALL comprises daily oral 6-mercaptopurine (6-MP) and weekly methotrexate (MTX). 6-MP is a purine analog that can significantly improve the long-term survival of ALL patients. Despite more than 90% of 5-year survival of childhood ALL in developed countries, treatment interruption due to...
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ژورنال
عنوان ژورنال: Nature
سال: 1978
ISSN: 0028-0836,1476-4687
DOI: 10.1038/272309a0