We’re inspired by significance. Every tool we develop and every service we deliver is designed to help our customers achieve significance in their research. Not only statistical, but scientific and personal significance as well. The icing on the cake is being able to share what our customers do and discover with others in the scientific community. We applaud each author as we know how difficult it can be to go through the publication process and reach that final milestone. Golden Helix would therefore like to take a moment every so often and recognize those authors who have been recently published in a scientific journal.

Without further ado, congratulations to Taye Hamza, Haydeh Payami, et. al. at New York State Department of Health Wadsworth Center for their recent publication of “Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson’s disease” in Nature Genetics. Abstract below.

Also plaudits to Jie Lin and Xiefeng Wu, et. al. at MD Anderson for an article in Carcinogenesis: “Genetic Variations in MicroRNA-Related Genes Are Associated with Survival and Recurrence in Patients with Renal Cell Carcinoma.” Abstract below.

Many more to come!

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson’s disease, Nature Genetics, Hamza T & Payami H et. al.
Parkinson’s disease is a common disorder that leads to motor and cognitive disability. We performed a genome-wide association study of 2,000 individuals with Parkinson’s disease (cases) and 1,986 unaffected controls from the NeuroGenetics Research Consortium (NGRC). We confirmed associations with SNCA and MAPT, replicated an association with GAK (using data from the NGRC and a previous study, P = 3.2 × 10−9) and detected a new association with the HLA region (using data from the NGRC only, P = 2.9 × 10−8), which replicated in two datasets (meta-analysis P = 1.9 × 10−10). The HLA association was uniform across all genetic and environmental risk strata and was strong in sporadic (P = 5.5 × 10−10) and late-onset (P = 2.4 × 10−8) disease. The association peak we found was at rs3129882, a noncoding variant in HLA-DRA. Two studies have previously suggested that rs3129882 influences expression of HLA-DR and HLA-DQ. The brains of individuals with Parkinson’s disease show upregulation of DR antigens and the presence of DR-positive reactive microglia, and nonsteroidal anti-inflammatory drugs reduce Parkinson’s disease risk. The genetic association with HLA supports the involvement of the immune system in Parkinson’s disease and offers new targets for drug development. Access the article

Genetic Variations in MicroRNA-Related Genes Are Associated with Survival and Recurrence in Patients with Renal Cell Carcinoma, Carcinogensis, Lin J & Wu X et. al.
We took a polygenic approach to evaluate the effects of 41 potentially functional single nucleotide polymorphisms (SNPs) in MicroRNAs -related genes on survival and recurrence among renal cell carcinoma (RCC) patients. During a median follow up of 21.8 months, among 316 RCC patients, 64 died and 56 developed recurrence. In single SNP analysis, we identified 7 SNPs significantly associated with RCC survival and 5 SNPs with recurrence. The most significant associations were SNPs in GEMIN4 with the variant alleles of both rs7813 and rs910925 associated with 1.74-fold (95% CI= 1.15 to 2.62) increased risk of death, while the variant allele of rs3744741 conferred a decreased risk of death (HR=0.39; 95% CI=0.19 to 0.77). Several SNPs belong to the pre-miRNA related genes were identified to be significantly associated with RCC recurrence. Haplotypes of DICER and DROSHA were also associated with altered patient survival and recurrence. More importantly, we observed accumulated effects of multiple SNPs on RCC survival. Compared with subjects carrying 0 to 2 unfavorable genotypes, those carrying 3 to 5, and 6 and more unfavorable genotypes had an increased risk of death with a HR of 2.49 (95% CI=1.24 to 5.00), and 6.66 (95% CI=2.49 to 17.86), respectively, with significant does-response trend (P for trend<0.001). As the first study of miRNA-related genetic polymorphisms on RCC clinical outcome, our results strongly suggested that micro-RNA related SNPs may impact the recurrence and survival in RCC patients. Future investigation in larger populations and functional characterizations are necessary to validate these results. Access the article