Age-related macular degeneration (AMD) is the leading cause of blindness in industrialized countries. It is a genetically heterogeneous disorder. With the development of molecular biology and molecular genetics, multiple potentially causative genes have been identified. Current studies of susceptibility genes and genetic epidemiology of AMD are reviewed.
Blindness ; epidemiology ; genetics ; Chromosomes, Human ; genetics ; Genetic Predisposition to Disease ; Humans ; Macular Degeneration ; epidemiology ; genetics ; Molecular Epidemiology

BACKGROUNDNumerous studies have evaluated the association between interleukin-18 (IL-18) promoter gene -607C/ A (rs1946518) polymorphism and tuberculosis (TB) risk. However, the results remain apparently conflicting. The aim of this study was to investigate whether IL-18-607C/A polymorphism is associated with susceptibility to TB.

METHODSPublications addressing the association between the IL-18-607C/A polymorphism and TB risk were selected from the Pubmed, Cochrane Library, Embase, CNKI and Wanfang databases. Data were extracted from the studies by two independent reviewers. Statistical analysis was performed using RevMan 5.0.25 and STATA 11.0 software.

RESULTSEight case-control studies with a total of 1166 TB patients and 1734 controls were retrieved. Meta-analysis results showed significant association between IL-18-607C/A polymorphism and TB risk in all comparisons of the A allele versus C allele (OR=1.17, 95% CI 1.05-1.30, P=0.004), AA versus CC (OR=1.43, 95% CI 1.14-1.81, P=0.002), CA+AA versus CC (OR=1.20, 95% CI 1.01-1.42, P=0.04) and AA versus CA+CC (OR=1.30, 95% CI 1.07-1.58, P=0.007). In subgroup analysis by nationality, a significant association between IL-18-607C/A polymorphism and TB risk in the comparisons of A versus C, CA+AA versus CC and AA versus CA+CC (OR=1.22, 95% CI 1.07-1.38, P=0.002; OR=1.31, 95% CI 1.06-1.61, P=0.01; OR=1.32, 95% CI 1.07-1.63, P=0.01, respectively) were found in Chinese population but not in Indian and Iranian populations.

CONCLUSIONThis study suggests that the -607C/A polymorphism of IL-18 gene would be a risk factor for TB, especially in Chinese population. To further evaluate gene-to-gene and gene-to-environment interactions on -607C/A polymorphism and tuberculosis risk, more studies with thousands of patients are required.

Genetic Predisposition to Disease ; genetics ; Humans ; Interleukin-18 ; genetics ; Promoter Regions, Genetic ; genetics ; Tuberculosis ; epidemiology ; genetics

BACKGROUND AND OBJECTIVEThe relationship between myeloperoxidase G-463A genetic polymorphisms and lung cancer susceptibility has been studied extensively. However, the outcomes are not consistent. The aim of this study is to evaluate the relationship between myeloperoxidase genetic polymorphisms and lung cancer susceptibility by meta analysis.

METHODSDocuments published were retrieved through databases associated with the study. Taking into account the possibilities of heterogeneity of the studies, a statistical test for heterngeneity was performed. The odds ratio and 95% CI were used to evaluate the risks. The meta analysis was applied with RevMan software 4.2, and the forest plot and funnel plot of meta analysis were worked out.

RESULTSA total of 5 381 cases and 5 827 controls from studies for Caucasian and a total of 1 558 cases and 1 755 controls from studies for East Asians were included. For Caucasian the pooled OR was 0.91 (95% CI: 0.81-1.02); For East Asians, the pooled OR is 0.83 (95% CI: 0.63-1.09). Publication bias exits in the study for Caucasian, but not for East Asians.

CONCLUSIONThe results of this study indicated that the polymorphism of myeloperoxidase G-463A was not significantly associated with the lung cancer risk for Caucasian or East Asians. However, further studies for the East Asians is needed for the few subjects.

Genetic Predisposition to Disease ; genetics ; Humans ; Lung Neoplasms ; epidemiology ; genetics ; Peroxidase ; genetics ; Polymorphism, Genetic ; genetics

With the rapid development of human genome project, increased genetic and population-based association studies are focused on the identification of the underlying susceptibility genes and contributions from gene-environment interaction to common complex diseases. Whole-genome association study with high-density single nucleotide polymorphisms is one of the most important milestones in that process. However, problems still exist in study design, data processing, and results interpretation. Large-scale cohort study or population-based case-control design with sufficient statistical power, new approaches to assess the gene-gene and gene-environment interactions, as guarantee of the consistency and replicability of these researches are crucial in the exploration of the causes of these common complex diseases.
Genetic Markers ; Genetic Predisposition to Disease ; Genetics, Population ; Humans ; Linkage Disequilibrium ; Molecular Epidemiology ; Phenotype

Brain Ischemia ; epidemiology ; genetics ; Genetic Predisposition to Disease ; Humans ; Pedigree ; Stroke ; epidemiology ; genetics

OBJECTIVEThis meta-analysis was performed to summarize the association of the ADIPOQ rs2241766 and rs266729 polymorphisms with metabolic syndrome (MS) in the Chinese population.

METHODSWe searched for articles in MEDLINE via PubMed, EMBASE, HuGE Navigator, CNKI, and Wanfang databases and calculated odds ratios (ORs) with 95% confidence intervals (CIs) to determine the strength of associations in fixed- or random-effects models.

RESULTSWe included 21 articles in the meta-analysis: 17 reports of ADIPOQ rs2241766 with 3628 cases and 3000 controls and 8 of rs266729 with 2021 cases and 2226 controls. We found an increased risk of MS with the ADIPOQ rs2241766 polymorphism in some genetic models (allele model: OR=1.12, 95% CI: 1.03-1.21; dominant model: OR=1.15, 95% CI: 1.04-1.28; homozygote model: OR=1.22, 95% CI: 1.00-1.49) but no association with the ADIPOQ rs266729 polymorphism (allele model: OR=0.98, 95% CI: 0.82-1.17; dominant model: OR=0.90, 95% CI: 0.79-1.02; recessive model: OR=1.09, 95% CI: 0.85-1.39; homozygote model: OR=1.03, 95% CI: 0.80-1.33).

CONCLUSIONThe results of this meta-analysis suggest an association between the ADIPOQ rs2241766 polymorphism and MS in the Chinese population. G allele of ADIPOQ rs2241766 increases the risk of MS. Better designed studies with different ethnic populations and larger sample sizes are needed for assessing the relationship between ADIPOQ rs2241766 and rs266729 polymorphisms and MS in the future.

Adiponectin ; genetics ; metabolism ; China ; epidemiology ; Genetic Predisposition to Disease ; Genotype ; Humans ; Metabolic Syndrome ; epidemiology ; genetics ; Polymorphism, Genetic ; Risk Factors

In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.
*Genetic Markers ; Genetic Predisposition to Disease ; Genetic Testing ; Genome, Human ; Humans ; Individualized Medicine ; Models, Statistical ; *Molecular Epidemiology ; *Pharmacogenetics ; Risk Assessment

The final decision of study design in molecular and genetic epidemiology is usually a compromise between the research study aims and a number of logistical and ethical barriers that may limit the feasibility of the study or the interpretation of results. Although biomarker measurements may improve exposure or disease assessments, it is necessary to address the possibility that biomarker measurement inserts additional sources of misclassification and confounding that may lead to inconsistencies across the research literature. Studies targeting multi-causal diseases and investigating gene-environment interactions must not only meet the needs of a traditional epidemiologic study but also the needs of the biomarker investigation. This paper is intended to highlight the major issues that need to be considered when developing an epidemiologic study utilizing biomarkers. These issues covers from molecular and genetic epidemiology (MGE) study designs including cross-sectional, cohort, case-control, clinical trials, nested case-control, and case-only studies to matching the study design to the MGE research goals. This review summarizes logistical barriers and the most common epidemiological study designs most relevant to MGE and describes the strengths and limitations of each approach in the context of common MGE research aims to meet specific MEG objectives.
Disease Progression ; *Epidemiologic Research Design ; *Epidemiologic Studies ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; *Molecular Epidemiology ; Risk Assessment

OBJECTIVEPigs, as hosts of zoonotic Cryptosporidium species/genotypes, are domestic animals with public health significance. The present study was to characterize the infection rate and species/genotype of Cryptosporidium in pre-weaned and post-weaned pigs from Shanghai and Shaoxing, China.

METHODSA total of 208 fecal samples (42 from pre-weaned piglets, and 166 from post-weaned pigs) were examined by nested PCR of the 18S rRNA gene and analyzed by phylogenetic DNA fragment sequencing of secondary PCR products.

RESULTSInfection was detected in 79 samples (19/42 pre-weaned piglets, and 60/166 post-weaned pigs). C. suis (14/79) and Cryptosporidium pig genotype II (65/79) were identified; piglets were more susceptible to the former (13/14) and post-weaned pigs to the latter (59/65).

CONCLUSIONInfection of Cryptosporidium spp. in pigs was age-specific; piglets were more susceptible to C. suis while pigs were more susceptible to Cryptosporidium pig genotype II. These findings combined with the isolation of the two Cryptosporidium from water suggest that pigs may be a source of zoonotic Cryptosporidium water pollution. Improvements in pig feeding practices, sewage discharge, feces disposal and field worker protection are therefore important to prevent potential public health problems.

Aging ; Animals ; China ; epidemiology ; Cryptosporidiosis ; epidemiology ; parasitology ; veterinary ; Genetic Predisposition to Disease ; Genotype ; Swine ; Swine Diseases ; epidemiology ; parasitology ; Weaning

Vitiligo is a depigmentation disease affected by a variety offactors,of which genetic factors play a key role.Single nucleotide polymorphism as a common type of genetic variation can be detected by candidate gene analysis and genome-wide association study.The recent studies have demonstrated that multiple susceptibility genes play a vital role in the occurrence and development of vitiligo.This article introduces the single nucleotide polymorphisms of vitiligo susceptibility genes according to the gene functions.
Humans ; Polymorphism, Single Nucleotide ; Vitiligo/epidemiology* ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Case-Control Studies