A note on the fertility and some demographical parameters of Icelandic toelter horses

Mating results of 5649 pairings taking place in the years 1978 and 1979 were analysed. The average fertility rate for 316 stallions was found to be 85.6%. On average, 17.9 mares were mated to each stallion during the breeding season. The overall fertility (conception) rate was estimated to 82.1%, the apparent fertility rate 81.1% and the numerical productivity rate 78.0%. The sex ratio for the newborn foals was found to be 52.5% males vs 47.5% females, which is significantly different from an equal ratio of the two sexes. The generation interval from parent's birth to birth of offspring, L_PO, was estimated to be 9.7 years. The generation intervals for the four different paths were: L_SS=8.6, L_SD=8.7, L_DS=11.4 and L_DD=11.6.     

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma

Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.     

A common variant on chromosome 9p21 affects the risk of myocardial infarction

The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases and 12,767 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance. Approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardial infarction is 1.64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases.