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2.
R Soc Open Sci ; 7(1): 190775, 2020 Jan.
Article in English | MEDLINE | ID: mdl-32218930

ABSTRACT

Atherothrombosis is the cornerstone of cardiovascular diseases and the primary cause of death worldwide. Genetic contribution to disturbances in lipid metabolism, coagulation, inflammation and oxidative stress increase the susceptibility to its development and progression. Given its multifactorial nature, the multiloci studies have been proposed as potential predictors of susceptibility. A cross-sectional study was conducted to explore the contribution of nine genes involved in oxidative stress, inflammatory and thrombotic processes in 204 subjects with atherothrombosis matched by age and gender with a healthy group (n = 204). To evaluate the possibility of spurious associations owing to the Mexican population genetic heterogeneity as well as its ancestral origins, 300 unrelated mestizo individuals and 329 Native Americans were also included. ALOX5, LPA, MMP9 and TPO gene polymorphisms, as well as their multiallelic combinations, were twice to four times more frequent in those individuals with clinical manifestations of atherothrombosis than in the healthy group. Once adjusting for population stratification was done, these differences remained. Our results add further evidence on the contribution of ALOX5, LPA, MMP9 and TPO polymorphisms to atherothrombosis development in the middle-aged group, emphasizing the multiethnic studies in search of gene risk polymorphisms.

3.
J Hum Genet ; 61(9): 781-6, 2016 Sep.
Article in English | MEDLINE | ID: mdl-27193223

ABSTRACT

A short CAG repeat length in the gene encoding for the androgen receptor (AR) has been associated with prostate cancer (PC) risk and aggressiveness. In Latino men, information on this association is scarce. Hence, the aim of this study was to evaluate this association in Mexican males. Using fragment analysis by capillary electrophoresis, we determined the number of CAG repeats-(CAG)n-in AR gene from 158 incident PC cases and 326 age-matched healthy controls (±5 years), residing in Mexico City, Mexico. According to Gleason scale and age at diagnosis, cases were classified as high (⩾7) and low grade (<7), as well as early onset (<60 years) or late onset PC (⩾60 years). At diagnosis, 78% of cases were classified as high-grade and 26.6% as early onset. Men with sporadic (no family history of PC) and early-onset PC presented shorter CAG repeat length than controls (18.6±2.2 vs 19.5±2.5; P=0.02). Lower number of CAG repeats (CAG)⩽19 were associated with a greater risk for early-onset PC (odds ratio: 2.31; 95% confidence interval: 1.14-4.69). CAG repeat length could increase the risk for sporadic and early-onset PC. The best cutoff point for identifying at-risk subjects was (CAG)19. However, further studies are necessary to replicate our findings in subjects with a family history of PC and also to evaluate the association between CAG repeats length and disease progression.


Subject(s)
Polymorphism, Genetic , Prostatic Neoplasms/epidemiology , Prostatic Neoplasms/genetics , Receptors, Androgen/genetics , Trinucleotide Repeats , Adult , Age of Onset , Aged , Aged, 80 and over , Alleles , Case-Control Studies , Gene Frequency , Genotype , Humans , Male , Mexico/epidemiology , Middle Aged , Neoplasm Grading , Odds Ratio , Population Surveillance , Prostatic Neoplasms/pathology , Risk , Trinucleotide Repeat Expansion
4.
Ann Hum Biol ; 43(6): 563-571, 2016 Nov.
Article in English | MEDLINE | ID: mdl-26647803

ABSTRACT

BACKGROUND: STRs are powerful tools intensively used in forensic and kinship studies. AIM: In order to assess the effectiveness of non-CODIS genetic markers in forensic and paternity tests, the genetic composition of six mini short tandem repeats-mini-STRs-(D1S1656, D2S441, D6S1043, D10S1248, D12S391, D22S1045) and the microsatellite SE33 in Mestizo and Amerindian populations from Mexico were studied. SUBJECTS AND METHODS: Using multiplex polymerase chain reactions and capillary electrophoresis, this study genotyped all loci from 870 chromosomes and evaluated the statistical genetic parameters. RESULTS: All mini-STRs studied were in agreement with HW and linkage equilibrium; however, an important HW departure for SE33 was found in the Mestizo population (p ≤ 0.0001). Regarding paternity and forensic statistical parameters, high values of combined power discrimination and mean power of exclusion were found using these seven markers. The principal co-ordinate analysis based on allele frequencies of three mini-STRs showed the complex genetic architecture of the Mestizo population. CONCLUSION: The results indicate that this set of loci is suitable to genetically identify individuals in the Mexican population, supporting its effectiveness in human identification casework. In addition, these findings add new statistical values and emphasise the importance of the use of non-CODIS markers in complex populations in order to avoid erroneous assumptions.


Subject(s)
Ethnicity/genetics , Forensic Genetics , Genetic Loci , Genetics, Population , Indians, South American/genetics , Microsatellite Repeats/genetics , Paternity , Female , Humans , Male , Mexico , Polymerase Chain Reaction , Principal Component Analysis , Statistics as Topic
5.
Biomed Res Int ; 2014: 697689, 2014.
Article in English | MEDLINE | ID: mdl-25250329

ABSTRACT

OBJECTIVE: Venous thromboembolism (VTE) is a multifactorial disorder and, worldwide, the most important cause of morbidity and mortality. Genetic factors play a critical role in its aetiology. Microsatellites are the most important source of human genetic variation having more phenotypic effect than many single nucleotide polymorphisms. Hence, we evaluate a possible relationship between VTE and the genetic variants in von Willebrand factor, human alpha fibrinogen, and human thyroid peroxidase microsatellites to identify possible diagnostic markers. METHODS: Genotypes were obtained from 177 patients with VTE and 531 nonrelated individuals using validated genotyping methods. The allelic frequencies were compared; Bayesian methods were used to correct population stratification to avoid spurious associations. RESULTS: The vWA-18, TPOX-9, and TPOX-12 alleles were significantly associated with VTE. Moreover, subjects bearing the combination vWA-18/TPOX-12 loci exhibited doubled risk for VTE (95% CI = 1.02-3.64), whereas the combination vWA-18/TPOX-9 showed an OR = 10 (95% CI = 4.93-21.49). CONCLUSIONS: The vWA and TPOX microsatellites are good candidate biomarkers in venous thromboembolism diseases and could help to elucidate their origins. Additionally, these polymorphisms could become useful markers for genetic studies of VTE in the Mexican population; however, further studies should be done owing that this data only show preliminary evidence.


Subject(s)
Genetic Predisposition to Disease/ethnology , Genetic Predisposition to Disease/genetics , Iodide Peroxidase/genetics , Polymorphism, Single Nucleotide/genetics , Venous Thrombosis/ethnology , Venous Thrombosis/genetics , von Willebrand Factor/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Female , Genetic Markers/genetics , Humans , Male , Mexico/epidemiology , Microsatellite Repeats/genetics , Middle Aged , Prevalence , Risk Factors , Young Adult
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