Linkage disequilibrium assessment via log-linear modeling of SNP haplotype frequencies

Analyses of high-density single-nucleotide polymorphism (SNP) data, such as genetic mapping and linkage disequilibrium (LD) studies, require phase-known haplotypes to allow for the correlation between tightly linked loci. However, current SNP genotyping technology cannot determine phase, which must be inferred statistically. In this paper, we present a new Bayesian Markov chain Monte Carlo (MCMC) algorithm for population haplotype frequency estimation, particulary in the context of LD assessment. The novel feature of the method is the incorporation of a log-linear prior model for population haplotype frequencies. We present simulations to suggest that 1) the log-linear prior model is more appropriate than the standard coalescent process in the presence of recombination (>0.02cM between adjacent loci), and 2) there is substantial inflation in measures of LD obtained by a "two-stage" approach to the analysis by treating the "best" haplotype configuration as correct, without regard to uncertainty in the recombination process. Genet Epidemiol 25:106-114, 2003. (C) 2003 Wiley-Liss, Inc.

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson`s Disease

Background Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher`s disease, among patients with Parkinson`s disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson`s disease. Methods Sixteen centers participated in our international, collaborative study: five from the Americas, six from Europe, two from Israel, and three from Asia. Each center genotyped a standard DNA panel to permit comparison of the genotyping results across centers. Genotypes and phenotypic data from a total of 5691 patients with Parkinson`s disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel-Haenszel procedure used to estimate odds ratios across centers. Results All 16 centers could detect two GBA mutations, L444P and N370S. Among Ashkenazi Jewish subjects, either mutation was found in 15% of patients and 3% of controls, and among non-Ashkenazi Jewish subjects, either mutation was found in 3% of patients and less than 1% of controls. GBA was fully sequenced for 1883 non-Ashkenazi Jewish patients, and mutations were identified in 7%, showing that limited mutation screening can miss half the mutant alleles. The odds ratio for any GBA mutation in patients versus controls was 5.43 across centers. As compared with patients who did not carry a GBA mutation, those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were more likely to have atypical clinical manifestations. Conclusions Data collected from 16 centers demonstrate that there is a strong association between GBA mutations and Parkinson`s disease.

Analysis of Optimum Location, Viability, and Potential Effects of Wind Farm Construction in Maine

Maine has the highest potential for wind energy in New England and falls within the top twenty states in the nation. It falls just behind Wisconsin and California with an estimate electrical output of 56 billion kWhs. The geological makeup of Maine’s mountains in the western part of the state, and the exposed coastline provide opportune areas to capture wind and convert it into energy. The information included in this poster will suggest the most likely areas for wind development based on a number of factors as recommended by the American Wind Energy Association.

The Economic Effects of Ski Resorts on Communities in the State of Maine

Skiing and snowboarding is a fairly expensive activity for participant and one in which the industry as a whole makes handsome profits. In the 2005/06 season, resorts in the Northeast reported an average gross revenue of $18.5 million. (NSAA) With the current weather phenomenon of El Nino, however, resorts in New England especially, have been suffering economically. The gross revenue in New England in the ’05/’06 season was down 4% from the previous year, likely due to the fact the total snowfall declined by 16%. (NSAA) Much of this loss in revenue came during the Christmas to New Years vacation period. In the 2007 season, most mountains were less than half-opened during this peak week and the number of skiers and riders was especially low. With such a large decrease in profits, it is likely that many people will soon be affected (if they have not already been), including local employees. This project, therefore, seeks to analyze the impact that the resorts have on the local economies in order to determine the potential problems the changing snowfall patterns could have on locals’ well-being. It is hypothesized that there will be a strong correlation between the proximity of a community to a resort and the relative economic prosperity of that community; meaning that the ski industry is a pivotal part of their income and livelihood.

Maine and the Hartford Convention: The Impact of the War of 1812 on the Politics of Maine and Massachusetts

The question of why the New England Federalists failed to force a confrontation with the national government has been a continuing historical controversy. I feel that the vigorous stance of the New England Democratic-Republicans particularly in Maine (then a part of Massachusetts), to radical Federalist schemes acted to restrain their opponents. In the final analysis my argument is that New England could not act without Maine. To paraphrase Federalist George Herbert of Ellsworth, on such a slender thread do the destinies of nations hang.