A major goal of current human genome-wide studies is to identify the genetic basis of complex disorders. However, the availability of an unbiased, reliable, cost efficient and comprehensive methodology to analyze the entire genome for complex disease association is still largely lacking or problematic. Therefore, we have developed a practical and efficient strategy for whole genome association studies of complex diseases by charting the human genome at 100 kb intervals using a collection of 27,039 microsatellites and the DNA pooling method in three successive genomic screens of independent case-control populations. The final step in our methodology consists of fine mapping of the candidate susceptible DNA regions by single nucleotide polymorphisms (SNPs) analysis. This approach was validated upon application to rheumatoid arthritis, a destructive joint disease affecting up to 1% of the population. A total of 47 candidate regions were identified. The top seven loci, withstanding the most stringent statistical tests, were dissected down to individual genes and/or SNPs on four chromosomes, including the previously known 6p21.3-encoded Major Histocompatibility Complex gene, HLA-DRB1. Hence, microsatellite-based genome-wide association analysis complemented by end stage SNP typing provides a new tool for genetic dissection of multifactorial pathologies including common diseases.
Recently, due to evolution of equipment and techniques, ordinary-level windsurfers can attempt acrobatic activities that previously only high-level windsurfers could perform in stormy conditions. Moreover, many difficult aerial tricks have been developed by high-level windsurfers. Synchronously, “foot strap injuries” have increased, which affect the knee, ankle, and foot by twisting loads because the foot is unable to be released from the foot strap. Here we report three Lisfranc ligament injuries in windsurfers that had not been diagnosed appropriately at another medical institution. The cases of two professional, and one amateur windsurfer, all of whom sustained a sprain to the anterior foot when they failed to land properly following an aerial trick or during wave riding, are reported in this publication. Weightbearing anterior to posterior (AP) view radiographs were an important tool for the diagnosis of these Lisfranc ligament injuries which can easily be missed on nonweightbearing films. Surgical treatment was chosen for two cases and conservative treatment was chosen for the other. To allow the windsurfers to return successfully to competition, we devised a special cork insole inside a marine boot called the “Ninja.” Lisfranc Ligament injuries should be suspected as there are frequent foot injuries in windsurfers, and adequate treatment can enable the patients to return to competition successfully.
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