Dataset Information

Genetic epidemiology of single gene defects in Chile.

ABSTRACT: We have studied the correlation between the ethnic structure and the prevalence of single gene defects in Chile. At present the Chilean population is approximately 64% white and 35% Amerindian with traces of other admixture. Fewer than 4% of the Chilean population are foreign born. Investigations indicate that all severe diseases and many others without impaired reproduction have mutation rates within the range of the white population. Classical ethnic diseases are very rare. Autosomal recessive disorders have a wide range of variability: cystic fibrosis has a low incidence and PKU has a similar incidence to English rates. Only 30% of the inborn errors of metabolism have been described in Chilean medical publications. In addition, no Chilean haemoglobin or haptoglobin variants have been described. Some rare inherited diseases in Chilean human isolates have been described, including achromatopsia, chondrocalcinosis, and Creutzfeldt-Jakob disease. The prevalence of intrahepatic cholestasis of pregnancy and supernumerary nipples is the highest in the world and they are associated with aboriginal origin. Single gene defects in Chile are probably shaped by factors related to its ethnic population structure. These local rare single gene defects may be good markers of population admixture for genetic epidemiological studies.

SUBMITTER: Cruz-Coke R

PROVIDER: S-EPMC1050080 | biostudies-other | 1994 Sep

REPOSITORIES: biostudies-other

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Genetic epidemiology of single gene defects in Chile.

Cruz-Coke R R Moreno R S RS

Journal of medical genetics 19940901 9

We have studied the correlation between the ethnic structure and the prevalence of single gene defects in Chile. At present the Chilean population is approximately 64% white and 35% Amerindian with traces of other admixture. Fewer than 4% of the Chilean population are foreign born. Investigations indicate that all severe diseases and many others without impaired reproduction have mutation rates within the range of the white population. Classical ethnic diseases are very rare. Autosomal recessive ...[more]

PMID: 7815439

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Project description:BackgroundChile peppers (Capsicum spp.) are among the most important horticultural crops in the world due to their number of uses. They are considered a major cultural and economic crop in the state of New Mexico in the United States. Evaluating genetic diversity in current New Mexican germplasm would facilitate genetic improvement for different traits. This study assessed genetic diversity, population structure, and linkage disequilibrium (LD) among 165 chile pepper genotypes using single nucleotide polymorphism (SNP) markers derived from genotyping-by-sequencing (GBS).ResultsA GBS approach identified 66,750 high-quality SNP markers with known map positions distributed across the 12 chromosomes of Capsicum. Principal components analysis revealed four distinct clusters based on species. Neighbor-joining phylogenetic analysis among New Mexico State University (NMSU) chile pepper cultivars showed two main clusters, where the C. annuum genotypes grouped together based on fruit or pod type. A Bayesian clustering approach for the Capsicum population inferred K = 2 as the optimal number of clusters, where the C. chinense and C. frutescens grouped in a single cluster. Analysis of molecular variance revealed majority of variation to be between the Capsicum species (76.08 %). Extensive LD decay (~ 5.59 Mb) across the whole Capsicum population was observed, demonstrating that a lower number of markers would be required for implementing genome wide association studies for different traits in New Mexican type chile peppers. Tajima's D values demonstrated positive selection, population bottleneck, and balancing selection for the New Mexico Capsicum population. Genetic diversity for the New Mexican chile peppers was relatively low, indicating the need to introduce new alleles in the breeding program to broaden the genetic base of current germplasm.ConclusionsGenetic diversity among New Mexican chile peppers was evaluated using GBS-derived SNP markers and genetic relatedness on the species level was observed. Introducing novel alleles from other breeding programs or from wild species could help increase diversity in current germplasm. We present valuable information for future association mapping and genomic selection for different traits for New Mexican chile peppers for genetic improvement through marker-assisted breeding.

Project description:The osteoporotic hip fracture is associated with a high impact on morbidity, mortality, and health expenditure. The Chilean health system is made up of a mixed care system, with the public system called FONASA and the private system called ISAPRE. The people with lower incomes are listed on FONASA and correspond to 80.8% of the population. The aims of this study were to describe the incidence of hip fracture in the Chilean population from the age of 45 years and to estimate the direct medical cost of this disease. The records of the Department of the Health Statistics and Information of the Ministry of Health were used, from which the number of national hospital discharges due to hip fractures was obtained (codes S720, S721, and S722 of the ICD-10), in adults aged 45 years or older, by sex, from 2006 to 2017. The cost of osteoporotic hip fracture treatment in the public health system was obtained from the data of the surgical treatment according to the payment method associated with diagnosis (PAD bonus). A surgical intervention budget was used in a private clinic to calculate the direct cost of osteoporotic hip fracture in the private system. Between 2006 and 2017, the number of hospital discharges due to osteoporotic hip fracture in adults aged 45 years and older has increased progressively, registering 9.583 hospital discharges for this cause in 2017, which corresponds to 50% more than those recorded in 2006, with a 3?:?1 F/M ratio. The mean annual rate of hip fractures is 148.7 per 100,000 inhabitants aged above 45 years. The individual cost of managing an osteoporotic hip fracture in the public system was USD$ 3,919, and USD$ 9,092 in the private health system. The incidence of hip fracture was comparable with data from Southern European countries and from neighboring countries, such as Argentina and Uruguay. Hospitalization cost of hip fracture in Chile was 34 million USD per year. Hip fracture constitutes a serious healthcare problem in Chile, and efforts for the prevention and management of osteoporosis are needed.

Dataset Information

Genetic epidemiology of single gene defects in Chile.

Publications

Genetic epidemiology of single gene defects in Chile.

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