Single nucleotide polymorphisms in the bovine leptin gene and their association with carcass and efficiency traits, and endocrine profiles, in female Angus cows

One hundred and fifty female Angus cattle were genotyped for the bovine leptin gene SNPs UASMS1, UASMS2, E2FB and E2JW. Net Feed Intake (NFI) Estimated Breeding Values (EBVs) and E2JW SNP data was also acquired from 169 Angus cattle that originated from Trangie Research Station, NSW, and were selected for a divergence in feed efficiency. The E2JW SNP was associated with NFI, NFI EBV and P8 fatness. The UASMS1 and UASMS2 SNPs were associated with circulating leptin concentrations. These particular associations have not been reported previously but similar associations have reported in North American studies. The inconsistent associations suggest that these SNPs are not good candidates for marker-assisted selection for NFI. Also, the investigation of associations with endocrine profiles that reflect body composition such as leptin, requires genotyping of a larger number of Australian cattle than was possible in this experiment

Aggregation of Single Nucleotide Polymorphisms in a Human H5N1 Clade 2.2 Hemagglutinin

The evolution of H5N1 has attracted significant interest 1-4 due to linkages with avian 5,6 and human infections 7,8. The basic tenets of influenza genetics 9 attribute genetic drift to replication errors caused by a polymerase complex that lacks a proof reading function. However, recent analysis 10 of swine influenza genes identifies regions copied with absolute fidelity for more than 25 years. In addition, polymorphism tracing of clade 2.2 H5N1 single nucleotide polymorphisms identify concurrent acquisition 11 of the same polymorphism onto multiple genetic backgrounds in widely dispersed geographical locations. Here we show the aggregation of regional clade 2.2 polymorphisms from Germany, Egypt, and sub-Sahara Africa onto a human Nigerian H5N1 hemagglutinin (HA), implicating recombination in the dispersal and aggregation of single nucleotide polymorphisms from closely related genomes

Effect of ageing and single nucleotide polymorphisms associated with the risk of aggressive prostate cancer in a New Zealand population

Prostate cancer is one of the most significant male health concerns worldwide, and various researchers carrying out molecular diagnostics have indicated that genetic interactions with biological and behavioral factors play an important role in the overall risk and prognosis of this disease. Single nucleotide polymorphisms are increasingly becoming strong biomarker candidates to identify the susceptibility of individuals to prostate cancer. We carried out risk association of different stages of prostate cancer to a number of single nucleotide polymorphisms to identify the susceptible alleles in a New Zealand population and checked the interaction with environmental factors as well. We identified a number of single nucleotide polymorphisms to have associations specifically to the risk of prostate cancer and aggressiveness of the disease, and also certain single nucleotide polymorphisms to be vulnerable to the reported behavioral factors. We have addressed “special” environmental conditions prevalent in New Zealand, which can be used as a model for a bigger worldwide study

TPH-2 polymorphisms interact with early life stress to influence response to treatment with antidepressant drugs

Background: Variation in genes implicated in monoamine neurotransmission may interact with environmental factors to influence antidepressant response. We aimed to determine how a range of single nucleotide polymorphisms in monoaminergic genes influence this response to treatment and how they interact with childhood trauma and recent life stress in a Chinese sample. An initial study of monoaminergic coding region single nucleotide polymorphisms identified significant associations of TPH2 and HTR1B single nucleotide polymorphisms with treatment response that showed interactions with childhood and recent life stress, respectively (Xu et al., 2012). Methods: A total of 47 further single nucleotide polymorphisms in 17 candidate monoaminergic genes were genotyped in 281 Chinese Han patients with major depressive disorder. Response to 6 weeks’ antidepressant treatment was determined by change in the 17-item Hamilton Depression Rating Scale score, and previous stressful events were evaluated by the Life Events Scale and Childhood Trauma Questionnaire-Short Form. Results: Three TPH2 single nucleotide polymorphisms (rs11178998, rs7963717, and rs2171363) were significantly associated with antidepressant response in this Chinese sample, as was a haplotype in TPH2 (rs2171363 and rs1487278). One of these, rs2171363, showed a significant interaction with childhood adversity in its association with antidepressant response. Conclusions: These findings provide further evidence that variation in TPH2 is associated with antidepressant response and may also interact with childhood trauma to influence outcome of antidepressant treatment

Associations of vitamin D pathway genes with circulating 25-hydroxyvitamin-D, 1,25-dihydroxyvitamin-D, and prostate cancer:a nested case-control study

Vitamin D pathway single nucleotide polymorphisms (SNPs) are potentially useful proxies for investigating whether circulating vitamin D metabolites [total 25-hydroxyvitamin-D, 25(OH)D; 1,25-dihydroxyvitamin, 1,25(OH)2D] are causally related to prostate cancer. We investigated associations of sixteen SNPs across seven genes with prostate-specific antigen-detected prostate cancer

Family-based Bayesian collapsing method for rare-variant association study

In this study, we analyze the Genetic Analysis Workshop 18 data to identify the genes and underlying single-nucleotide polymorphisms on 11 chromosomes that exhibit significant association with systolic blood pressure. We propose a novel family-based method for rare-variant association detection based on the hierarchical Bayesian framework. The method controls spurious associations caused by population stratification, and improves the statistical power to detect not only individual rare variants, but also genes with either continuous or binary outcomes. Our method utilizes nuclear family information, and takes into account the effects of all single-nucleotide polymorphisms in a gene, using a hierarchical model. When we apply this method to the genome-wide Genetic Analysis Workshop 18 data, several genes and single-nucleotide polymorphisms are identified as potentially related to systolic blood pressure.Peer reviewe

Single nucleotide polymorphisms detected and in silico analysis of the 5' flanking sequence and exon 1 in the Bubalus bubalis leptin gene

In this study, we have sequenced the 5' flanking region and exon 1 of the leptin gene in buffalo, and have detected eight single nucleotide polymorphisms; we have made evidence, through in silico analysis, that many of them fall within putative binding sites for transcription factors. Starting from the bovine whole genome shotgun sequence, that encodes the complete sequence of the leptin gene, we had designed primers to amplify two amplicons, so to cover the 5' flanking and exon 1 of the leptin gene of 41 non related buffalos. The newly sequenced buffalo fragment was submitted to profile search for transcription factor binding sites, using the MATCH program, focusing on the areas where the single nucleotide polymorphisms had been detected. Our analysis shows that the majority of the identified single nucleotide polymorphisms fall into the core sequence of transcription factor binding sites that regulate the expression of target genes in many physiological processes within mammalian tissues. Because the leptin gene plays an important role in influencing economic traits in cattle, the novel detected single nucleotide polymorphisms might be used in association studies to assess their potential of being genetic markers for selection

LASSO model selection with post-processing for a genome-wide association study data set

Model selection procedures for simultaneous analysis of all single-nucleotide polymorphisms in genome-wide association studies are most suitable for making full use of the data for a complex disease study. In this paper we consider a penalized regression using the LASSO procedure and show that post-processing of the penalized-regression results with subsequent stepwise selection may lead to improved identification of causal single-nucleotide polymorphisms