Search

Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 controls. Our findings do not support that homozygosity or heterozygosity for the variants C677T and A1298C in the MTHFR gene are associated with NTDs in infants. However, since we have the highest worldwide frequency of homozygotes for the MTHFR C677T variant, we cannot rule out that our propensity for NTDs may be related to how such gene variant interacts with other factors, mainly with our secular patterns of inappropriate folate intake.

This paper aims to show the sociocultural adaptation strategy of a group of mestizo migrants from Chiapas residing in “Buenavistita,” Laurel, Maryland, U.S. The methodology is qualitative, based on interviews and participant observation. The findings allow us to argue that the migratory experience forces them to loosen their identity boundaries inward the ethnic group to reconstitute themselves, survive away, and maintain their Mexican mestizo status. Resulting in the formation of territorial enclaves where they identified against those who label them as illegal, this being the way to defend themselves in a racialized society. This work contributes empirically to migration studies with the case of Chiapanecos mestizos. Although we conclude that the enclave is for them a refuge area, little can be said about other experiences of migrants from Chiapas around ethnicity and the blend of cultures.

Background: In Mexico, type 2 diabetes prevalence is 13.7%, which has a huge impact on Mexican public health. There is an urgent need to focus on the prevention of pre-diabetes to decrease the likelihood of type 2 diabetes onset. Gene variants predisposed to increase Fasting Blood Glucose (FBG) and glycosylated hemoglobin (HbA1c) levels could be helpful for prevention purposes. This study aimed to analyze the association of the G6PC2 rs560887 variant with pre-diabetes in a Mexican-Mestizo population. Methods: A cross-sectional case-control study was performed in 960 Mexican Mestizos participants. The association of G6PC2 rs560887 with pre-diabetes was analyzed by logistic regression and with Fasting Blood Glucose (FBG) and glycosylated hemoglobin (HbA1c) by linear regression. Results: The G6PC2 rs560887 variant was significantly associated with FBG (β -1.80, p=0.03), but not with HbA1c or the presence of pre-diabetes. Conclusion: The G6PC2 rs560887 loci could be a potential early marker of type 2 diabetes.

Aim: We conducted a retrospective analysis in 71 Mexican Mestizo patients to evaluate the breast cancer-free survival (BCFS) among the inferred genetic phenotypes (GP) of CYP2D6. Patients & methods: CYP2D6 was genotyped through Taqman-probe analysis; GP were inferred according to international guidelines. The BCFS was estimated through Kaplan–Meier method and analyzed with a log-rank test; hazard ratios were calculated with 95% CI and p < 0.05. Results: The BCFS did not differ among CYP2D6 GP (p = 0.45) and recurrence risk was similar between gNM + gUM and gPM + gIM groups (hazard ratio: 1.54, 95% CI: 0.37–6.38; p = 0.55). Conclusion: The findings do not support any impact of CYP2D6 on BCFS. Evaluation of other genetic/nongenetic biomarkers is needed in Mexican Mestizo patients under tamoxifen treatment.

Aims: To investigate the possible roles of the single nucleotide polymorphisms (SNPs) MATN3 (rs77245812) and DOT1L (rs12982744) with susceptibility to knee osteoarthritis (KOA) among mestizos from ...

UGT1A6 catalyzes the glucuronidation of several xenobiotics and drugs widely used. Changes in the glucuronidation rate are attributed to inter-personal and inter-ethnic variations, that can impact the expression or enzyme function. Frequencies of genetic polymorphisms of UGT1A6 have been reported in another countries; however, there are no date of frequencies in the Mexican population. The aim of this work was to determine the genotypic and allelic frequencies of UGT1A6 19T˃G in a Mexican mestizo population of the state of Puebla and compare them with the frequencies observed in other populations. Peripheral blood DNA was obtained from 60 healthy adults and 19 T˃G alleles were identified by the PCR-RFLP technique. Our results were compared with those observed in other ethnic groups, and we observed that our frequencies were lower than those reported in Chinese, Korean, Japanese, Hindu, and Greek populations. These results must be considered to make decisions when choosing the drugs administered to different ethnic groups.

Systemic lupus erythematosus (SLE) involves a broad range of factors that contribute to the development of the disease and its comorbidities. Genetic predisposition influences the developme...

Latin American populations trace their ancestry mainly to Post Columbian admixture among Native Americans (NA), Europeans, and Africans during nearly 500 years. Although historic and anthropological records suggest that the Peninsula of Yucatan (Southeast, Mexico) has as a large NA origin principally of Mayan ethnicity, they have been poorly studied with autosomal STRs. Thus, the ancestral proportion of Mestizos (admixed) from the Peninsula of Yucatan, was assessed by genotyping 687 subjects for 22 autosomal STRs (Powerplex Fusion system). STR databases from other Mexican Mestizos were included for the admixture analysis (North, West, and Center regions), Hispanic Americans, in addition to European, NA, and African genetic pools as ancestral references. The best fit of population clusters obtained with Structure (K = 5), suggests that Mestizos from the Southeast are principally composed by NA (64.9%), followed by European (33.7%) and African (1.3%) ancestries. This was the highest among the compared Mexican Mestizo populations (range: 51.5–64.3%) and Hispanics (32.9%). Conversely, the European ancestry in the southeast is the lowest among Mexican-Mestizos (range: 33.7–48.5%) and Hispanics (60.2%). Differences with previous reports based on lesser number of STRs could be explained by intrapopulation structure due to socioeconomic and educational factors, as has been previously described in Mexican-Mestizos. This particular ancestral landscape justifies the creation of local STR databases for human identification purposes in Mexico.

Leprosy, a human chronic granulomatous disease caused by Mycobacterium leprae (M. leprae), remains endemic in certain countries despite the use of multidrug therapy. Recently, several host genes modulating the immune responses to M. leprae infection have been suggested to influence the acquisition and clinical course of leprosy. Lymphoid protein tyrosine phosphatase, encoded by the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, serves a negative regulatory role in T cell activation. The non-synonymous single-nucleotide polymorphism (SNP) rs2476601 (1858C>T) has been associated with autoimmune diseases. Here, the present study investigated if rs2476601 polymorphism was associated with leprosy in a Mexican mestizo population. Genotyping was performed in patients with leprosy (n=189) and control subjects (n=231) from regions with higher incidence of leprosy. Genotypic (P=0.44) and allelic frequencies (P=0.45) of the rs2476601 polymorphism were similar between patients and controls; genotypic frequencies were 91 vs. 94% for CC and 9 vs. 6% for CT, and the TT genotype was absent in both groups. Allelic frequencies were 96 vs. 97% for C, and 4 vs. 3% for T. In the same way, the genotypic (P=0.46) and allelic frequencies (P=0.47) from MB patients and controls were similar. In conclusion, there was a lack of association of the PTPN22 rs2476601 polymorphism with the development of leprosy, which suggests that this SNP was not a genetic risk factor for leprosy in the Mexican mestizo population studied.

Introduction and aims: The intestinal microbiota is significantly altered in cirrhotic patients, but the composition of the intestinal microbiota in Mexican patients with the pathology has not been reported. The present study is an attempt to determine the type of intestinal microbiota in healthy subjects and in patients of Mexican mestizo origin that present with cirrhosis of the liver. Materials and methods: Biochemical liver function parameters (ALT, AST, GGT, BIL-T, etc.) were determined in 23 cirrhotic patients and 21 control subjects. The intestinal microbiota was established through 16S ribosomal RNA gene sequencing. Results: The cirrhotic patients had elevated levels of ALT, AST, GGT (105.2 ± 77.7 vs. 20.99 ± 8.5 UI/L, 110 ± 68.6 vs. 23.39 ± 5.2, and 119.1 ± 79.1 vs. 19.3 ± 15.2 UI/L, respectively), IL-6 (1.64 ± 0.38 pg/ml, P

Genetic variability influences the susceptibility to and severity of complex diseases, there is a lower risk of COPD in Hispanics than in non-Hispanic Caucasians. In this study, we included 830 Mexican-Mestizo subjects, 299 were patients with COPD secondary to tobacco smoking, and 531 were smokers without COPD. We employed a customized genotyping array of single nucleotide polymorphisms (SNPs). The population structure was evaluated by principal component analysis and allele association through a logistic regression model and haplotype identification. In this study, 118 individuals were identified with a high Caucasian component and 712 with a high Amerindian component. Independent of the ancestral contribution, two SNPs were associated with a reduced risk (p ≤ 0.01) of developing COPD in the CYP2A6 (rs4105144) and CYP2B6 (rs10426235) genes, however, a haplotype was associated with an increased risk of COPD (p = 0.007, OR = 2.47) in the CHRNA5-CHRNA3 loci among smokers with a high Caucasian component. In Mexican-Mestizo smokers, there are SNPs in genes that encode proteins responsible for the metabolism of nicotine associated with a lower risk of COPD, individuals with a high Caucasian component harboring a haplotype in the CHRNA5-CHRNA3 loci have a higher risk of suffering from COPD.

Clinical criteria diagnose Parkinson's disease (PD), therefore, it is crucial to find biological elements that could support diagnosis or even act as prognostic tools of PD. The SNCA gene codifies a protein called α - synuclein; several studies associate genetic and biochemical factors of SNCA with PD, including transcript and plasmatic protein levels, however, contradictory evidence indicates inconclusive results. We aim to compare SNCA mRNA expression, plasmatic α-syn protein and rs356219 SNP between PD cases and a control group, and to identify a potential biomarker in Mexican mestizos', focusing on these three components determined in blood. We included 88 PD patients and 88 age-matched controls. We observed higher α-syn protein and decreased SNCA mRNA levels in PD subjects, compared to control group (p = 0.044 and p 0.001, respectively). A statistically significant difference was found in allelic and genotypic frequencies of SNP rs356219 between PD patients and normal subjects (p = 0.006 and p = 0.023, respectively). Logistic regression analysis determined as optimal predictors of PD the GG genotype of SNP rs356219 (OR 2.49; p = 0.006) in a recessive model and α-syn protein (OR 1.057; p = 0.033). Furthermore, the G allele of SNP rs356219 was associated with higher plasmatic α-syn and mRNA levels in PD subjects. The receiver operating curves (ROC) distinguished PD from healthy controls with good sensitivity and specificity considering the plasmatic α-syn protein (AUC = 0.693, Sensitivity = 66.7 %, Specificity = 63.9 %) or a predictive probability of plasmatic α-syn protein and SNP rs356219 in a single model (AUC = 0.692, Sensitivity = 62.3 %, Specificity = 62.5 %). The performance of this classifier model in PD at early stage (n = 31) increase the discriminant power in both, plasmatic α-syn protein (AUC = 0.779, Sensitivity = 72.7 %, Specificity = 73.9 %) and predictive probability (AUC = 0.707, Sensitivity = 63.6 %, Specificity = 62.5 %). We propose that α-syn protein and SNP rs356219 together may work as a good signature of PD, and they can be suggested as a non-invasive biomarker of PD risk.

Background: type-2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by hyperglycemia, insulin resistance (IR), and abnormal fatty acid metabolism in which the CD36 receptor has been implicated in glucose and lipid dysregulation. Objective: to evaluate the contribution of polymorphism CD36 rs3211938 to metabolic profile in T2DM Mexican mestizos from western Mexico. Methods: we included 115 individuals classified as non-T2DM (NT2DM) adults and T2DM patients. Polymorphism CD36 rs3211938 was assessed by PCR-RFLP. Anthropometric and metabolic markers were measured by routine methods, and insulin and oxidized LDL (ox-LDL) were measured by ELISA. Results: the distribution of genotypes between NT2DM and T2DM patients was different (p0.001), as was the allele frequency (p = 0.002). NT2DM TG carriers showed the lowest levels of basal insulin and HOMA-IR index in comparison with TT carriers (p0.05 and p0.05, respectively). In the T2DM group TG carriers showed high BMI, WHR, and weight values (p = 0.001; p ≤ 0.05 and p0.05, respectively), and the highest levels of basal glucose, HDL-cholesterol, ox-LDL, and HOMA-IR (p0.001; p0.001; p0.001, and p = 0.001, respectively) in comparison with diabetic TT carriers. Conclusion: the CD36 rs3211938 TG genotype is associated with high levels of glucose, ox-LDL, HDL-cholesterol, and IR, and with increased BMI in Mexican mestizo T2DM patients from western Mexico.Antecedentes: la diabetes mellitus de tipo 2 (DMT2) es un trastorno metabólico crónico caracterizado por hiperglucemia, resistencia a la insulina (RI) y metabolismo anormal de ácidos grasos en el que se ha implicado el receptor CD36 en la disregulación de la glucosa y los lípidos. Objetivo: evaluar la contribución del polimorfismo CD36 rs3211938 al perfil metabólico en individuos mestizos mexicanos con DMT2 del occidente de México. Métodos: se incluyeron 115 individuos clasificados en adultos sin DMT2 (NDMT2) y pacientes con DMT2. El polimorfismo CD36 rs3211938 se identificó mediante PCR-RFLP. Las mediciones antropométricas y metabólicas se realizaron mediante métodos de rutina y la insulina y las LDL-oxidadas (LDL-ox) se midieron por ELISA. Resultados: las distribuciones de los genotipos entre los pacientes NDMT2 y DMT2 fueron diferentes (p0,001), así como la frecuencia alélica (p = 0,002). Los individuos NDMT2 portadores del genotipo TG mostraron niveles más bajos de insulina basal e índice HOMA-IR en comparación con los portadores del genotipo TT (p0,05 y p0,05, respectivamente). En el grupo DMT2, los portadores del genotipo TG presentaron valores elevados de índice de masa corporal (IMC), índice cintura-cadera (ICC) y peso (p = 0,001; p0,05 y p0,05, respectivamente) y niveles más altos de glucosa basal, HDL-colesterol, LDL-ox y HOMA-IR (p0,001; p0,001; p0,001 y p = 0,001, respectivamente) en comparación con los portadores del genotipo TT. Conclusión: el genotipo TG del polimorfismo CD36 rs3211938 se asocia a altos niveles de glucosa, ox-LDL, HDL-colesterol y RI, y a aumentos del IMC en los pacientes mestizos mexicanos con DMT2 del occidente de México.

Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern. Clinical exome sequencing (CES) showed known compound missense variants in PMM2 c.422G > A (p.R141H) and c.395 T > C (p.I132T), coding for the phosphomanomutase 2 (PMM2). PMM2 catalyzes the conversion of mannose-6-P to mannose-1-P required for the synthesis of GDP-Man and Dol-P-Man, donor substrates for glycosylation reactions. This is the third reported Mexican CDG patient and the first with PMM2-CDG. PMM2 has been recently identified as one of the top 10 genes carrying pathogenic variants in a Mexican population cohort.

It has been suggested that obesity increases the incidence of metastatic breast tumors, resulting in higher rates of recurrence, and increased mortality; for that reason, the aim of this study was to investigate if different body mass indexes modified the clinicopathologic characteristics of breast cancer; as well as, the recurrence-free survival in postmenopausal Mexican-Mestizo women. Two hundred twenty postmenopausal women with operable breast cancer were included. A structured questionnaire was applied to explore the existence of potential risk factors. Body mass index (BMI) was determined in each case and patients were grouped in accordance to their BMI in: normal weight, overweight, or obesity. Kaplan-Meier survival analysis and log-rank statistic were used to estimate recurrence-free-survival differences. Hormonal receptor(+)/HER2(-) was the most frequent breast cancer in all groups. Overweight women presented a statistically significant increased risk of this molecular subtype, with an odds ratio (OR) = 5.57; 95% confidence interval (CI) = 1.54-24.86

Aim: To evaluate plasma endoxifen levels and metabolic phenotype-associated factors in Mexican Mestizo patients under tamoxifen treatment. Patients & methods: A total of 138 breast cancer patients under tamoxifen treatment were cross-sectionally evaluated and side effects (SE) were recorded. CYP2D6 genetic phenotypes (GP) and metabolic phenotypes (MP) were assessed (metabolic poor [mPM], intermediate [mIM], normal [mNM], and ultrarapid [mUM] metabolizer). Associations were tested in uni-multivariate models for endoxifen >5.9 ng/ml and for mNM + mUM MP. Results: The main SE was hot flashes (62%). Distribution of the CYP2D6 MP was 4.3% mPM; 14.5% mIM; 75.4% mNM; and 5.8% mUM. Endoxifen >5.9 ng/ml was partially associated with SE (p = 0.06); the mNM + mUM MP was associated with treatment time (p = 0.03). Conclusion: The endoxifen-associated factors in Mexican Mestizo patients remain inconclusive, although treatment time was associated with MP.

Background: Genome-wide association studies (GWAS) for colorectal cancer (CRC) have detected high-risk genetic variants associated with CRC in several ethnic groups, but Latin American communities are still underrepresented. The aim was to identify variants related to CRC in an admixed Latin American population. Methods: The study was performed in 831 cases and 881 controls from Mexico, who were genotyped for 1,006,703 autosomal SNPs. Logistic regression was carried out including covariants, such as sex, age and genetic ancestry. Lastly, we performed a sequence-kernel association test (SKAT) to consider the joint effect of several SNPs lying in genes.Results: Eight chromosomal regions reached genome-wide significance level ( p < 5×10 -8 ): 1p36.22, 1p31.1, 1q42.13, 6p22, 7p14.1, 12q24.32, 16q12.2 and 21q22.2 and 63 variants reached borderline statistical significance ( p < 1×10 − 6 ). SKAT analysis detected 13 loci associated with CRC, none of them previously associated with CRC. Conclusions: We found 8 SNPs and 13 loci associated with CRC. These signals may contribute to enrich the panoply of genes involved with CRC. Further analyses remain to be done to validate the associations in other Latin American populations. This study highlights the importance of conducting GWAS in poorly explored admixed populations.

espanolAntecedentes: los niveles de lipoproteina (a) [Lp (a)] estan determinados geneticamente; los niveles elevados son un factor de riesgo de enfermedad coronaria, aunque su asociacion con el calcio arterial coronario (CAC) es controvertida. Objetivo: El objetivo del estudio fue evaluar la asociacion depolimorfismos del gen LPA con CAC en una poblacion mestiza mexicana. Metodos: se incluyeron 1594 sujetos de 35 a 70 anos. Seanalizaronseis polimorfismos delgen LPA . La puntuacion CAC se determino mediante tomografia y los niveles sericos de Lp (a) mediante inmunonefelometria. La asociacion delpolimorfismode LPA con CAC y Lp (a) se evaluo mediante regresion logistica. Resultados: La prevalencia de Lp (a) ≥ 30 mg / dL fue del 10% y de CAC> 0 fue del 26,9%. Tres polimorfismos se asociaron con niveles altos de Lp (a): rs10455872-G (p = 0.013), rs6907156-T (p = 0.021) y rs7765803-C (p = 0.001). Los homocigotos (CC) para la variante rs7765803 en comparacion con los portadores del alelo G (CG + GG) tenian niveles mas altos de Lp (a) (8,9 [3,3-23,9] frente a 4,9 [2,3-11,2] mg / dL; p = 0,015) y mayor prevalencia de CAC> 0 (36,5% vs 26,3%, p = 0,045) y se asociaron con CAC> 0 (odds ratio = 1,7, intervalo de confianza del 95%: 1,06-2,7; p Conclusiones: Este es el primer estudio que demuestra en una poblacion mestiza mexicana que los portadores del alelo rs7765803-C delgen LPA tienen 2.6 veces mayor riesgo de valores altos de Lp (a) y 1.7 veces mayor riesgo de enfermedad coronaria. EnglishBackground: Lipoprotein(a) [Lp(a)] levels are genetically determined; high levels are a risk factor for coronary disease, although their association with coronary artery calcium (CAC) is controversial. Objective: The objective of the study was to assess the association of LPA gene polymorphisms with CAC in a Mexican Mestizo population. Methods: We included 1594 subjects 35-70 years old. Six polymorphisms of the LPA gene were analyzed. CAC score was determined by tomography and Lp(a) serum levels by immunonephelometry. The association of LPA polymorphism with CAC and Lp(a) was evaluated by logistic regression. Results: The prevalence of Lp(a) ≥30 mg/dL was 10%, and of CAC >0 was 26.9%. Three polymorphisms were associated with high Lp(a) levels: rs10455872-G (p = 0.013), rs6907156-T (p = 0.021), and rs7765803-C (p = 0.001). Homozygotes (CC) for the rs7765803 variant compared with the G allele (CG + GG) carriers had higher Lp(a) levels (8.9 [3.3-23.9] vs. 4.9 [2.3-11.2] mg/dL; p = 0.015) and higher prevalence of CAC >0 (36.5% vs. 26.3%, p = 0.045) and were associated with CAC > 0 (odds ratio = 1.7, 95% confidence interval: 1.06-2.7; p

Tobacco smoking results in a multifactorial disease involving environmental and genetic factors, epigenome-wide association studies (EWAS) show changes in DNA methylation levels due to cigarette consumption, partially reversible upon tobacco smoking cessation. Therefore, methylation levels could predict smoking status. This study aimed to evaluate the DNA methylation level of cg05575921 (AHRR) and cg23771366 (PRSS23) and their correlation with lung function variables, cigarette consumption, and nicotine addiction in the Mexican smoking population. We included 114 non-smokers (NS) and 102 current tobacco smokers (TS), we then further subclassified them as heavy smokers (HS) (n = 53) and light smokers (LS) (n = 49). We used restriction enzymes (MspI/HpaII) and qPCR to determine the DNA methylation level. We observed significant hypomethylation of cg05575921 in smokers compared to NS (p = 0.003), further analysis found a difference between HS and NS (p = 0.02). We did not observe differences between other groups or a positive correlation between methylation levels and age, BMI, cigarette consumption, nicotine addiction, or lung function. In conclusion, the cg05575921 site of AHRR is significantly hypomethylated in Mexican smokers, especially in HS (≥20 cigarettes per day).

Background Mexican mestizo population has a pluriethnic mixture of Amerindian, European and African ancestry, predominant in most Latin American countries. Until now, there are no reports about hair characteristics in this population, necessary to define normal values, for hair diseases evaluation and comparison among other ethnic groups. Methods The VivoSight® swept-source multibeam optical coherence tomography system was used to evaluate hair diameter and shape in 30 females. Three hair samples from each volunteer were measured transversely along three distances, generating nine cross-sectional images, two measurements per image and 18 measurements per patient for a total of 540 diameter measurements. Results Minimum hair diameter (n = 540) was 0.06 mm while maximum was 0.14 mm. Mean diameter was 0.10 ± 0.01 mm as compared with Asian hair, which ranges from 0.08 mm to 0.12 mm. On morphological analysis, Mexican Mestizo hair tends to have a round shape with homogenous diameters, resembling Caucasian and Asian hair. Conclusion Mexican hair is similar to Asian hair in diameter and shape and can be classified as 'thick' hair, which make it more resistant and with more volume. Cosmetic products intended to improve hair care in this population must to consider this characteristic.

The rec(8)dup(8q)inv(8)(p23.1q22.1) chromosome associated with San Luis Valley Syndrome (SLVS OMIM 179613) is usually diagnosed in Hispanic patients from the USA Southwest where a founder carrier Spaniard lived around 1800 [1, 2]. This rec(8) has an 8q duplication of 47.90 Mb and an 8p deletion of 11.65 Mb [3, 4]. Excluding two de novo rec(8)dup q chromosomes characterized only by G-bands and included in a recent compilation [5], cytogenomic analyses identified nine comparable de novo der(8)dup q/del p chromosomes with or without a simultaneous 8p gain. We describe a Mexican mestizo girl with a de novo SLVS-like der(8) but with a concomitant 8p22p23.1 duplication

Mexican Mestizos (admixed) have been poorly studied for short tandem repeats (STRs) included for new human identification (HID) kits, such as the GlobalFiler PCR Amplification kit. Therefore, this kit was analyzed in 784 unrelated volunteers from the city of Tijuana (n = 381) and Sonora state (n = 403) in the northwest region of Mexico. Allele frequencies, forensic parameters, Hardy–Weinberg equilibrium, and linkage equilibrium were estimated or evaluated for 21 autosomal STRs, respectively. For this HID kit, the combined power of discrimination (PD) was > 0.99999999999999 (RMP range = 1.23 to 3.0 × 10−25), and the combined power of exclusion (PE) were 0.999999993 and 0.999999997 in Tijuana city and Sonora state, respectively. Interpopulation analyses based on STRs of the GlobalFiler kit was performed, including four Mexican Native American, one Mexican Mestizo, and four ethnic American populations (USA), previously studied. The low—but significant—differentiation observed among Mexican Mestizos (FST = 0.0969%; p = 0.02584) justifies the creation of STR databases for HID purposes in this country. In brief, results allow the confident use of the GlobalFiler kit for HID purposes in Mestizo population from the Northwest region Mexico.

In Mexico, the genetic mechanisms underlying childhood obesity are poorly known. We evaluated the effect of loci, known to be associated with childhood body mass index (BMI) in Europeans, in Mexican children from different ethnic groups. We performed linear and logistic analyses of BMI and obesity, respectively, in Mestizos and Amerindians (Seris, Yaquis and Nahuatl speakers) from Northern (n = 369) and Central Mexico (n = 8545). We used linear models to understand the effect of degree of Amerindian ancestry (AMA) and genetic risk score (GRS) on BMI z-score. Northern Mexican Mestizos showed the highest overweight-obesity prevalence (47.4%), followed by Seri (36.2%) and Central Mexican (31.5%) children. Eleven loci (SEC16B/rs543874, OLFM4/rs12429545/rs9568856, FTO/rs9939609, MC4R/rs6567160, GNPDA2/rs13130484, FAIM2/rs7132908, FAM120AOS/rs944990, LMX1B/rs3829849, ADAM23/rs13387838, HOXB5/rs9299) were associated with BMI and seven (SEC16B/rs543874, OLFM4/rs12429545/rs9568856, FTO/rs9939609, MC4R/rs6567160, GNPDA2 rs13130484, LMX1B/rs3829849) were associated with obesity in Central Mexican children. One SNP was associated with obesity in Northern Mexicans and Yaquis (SEC16B/rs543874). We found higher BMI z-score at higher GRS (&beta, = 0.11, p = 0.2 &times, 10&minus, 16) and at lower AMA (&beta, = &minus, 0.05, p = 6.8 &times, 7). The GRS interacts with AMA to increase BMI (&beta, = 0.03, p = 6.08 &times, 3). High genetic BMI susceptibility increase the risk of higher BMI, including in Amerindian children.

espanolAntecedentes: el estres mitocondrial y oxidativo se ha relacionado con la obesidad y el cancer de mama, siendo este cancer mas frecuente y mas agresivo en mujeres posmenopausicas con obesidad. Objetivo: El objetivo de este estudio fue investigar si las mujeres posmenopausicas mexicano-mestizas con cancer de mama y obesidad presentan diferentes mutaciones somaticas en el ADN mitocondrial (ADNmt) en comparacion con las mujeres con indice de masa corporal (IMC) normal. Sujetos y metodos: Se incluyeron seis mujeres posmenopausicas mexicano-mestizas portadoras de cancer de seno y que se sometieron a una mastectomia o cirugia conservadora de seno. El IMC se determino en cada caso. El ADN genomico de los pacientes se aislo de leucocitos de sangre y muestras de tejido tumoral. La secuencia completa de ADNmt se determino mediante la matriz de resecuenciacion mitocondrial MitoChip v2.0, y los datos se analizaron usando el software de analisis de secuencia GeneChip. La secuencia de ADNmt tumoral se comparo con la secuencia de ADNmt leucocitaria coincidente. Resultados: Tres mujeres tenian un IMC normal y tres presentaron obesidad. En general, encontramos 64 variantes geneticas: 53.1% fueron mutaciones somaticas y 46.9% fueron polimorfismos; 44.1% estaban en la region no codificante y 55.9% estaban en genes que codifican proteinas mitocondriales. Entre las mutaciones somaticas, el 67.7% estaba en pacientes con IMC normal y el 32.3% en pacientes con obesidad. Conclusiones: No encontramos una mayor frecuencia de mutaciones somaticas mitocondriales en mujeres posmenopausicas con cancer de mama y obesidad en comparacion con aquellas con IMC normal. Sin embargo, los resultados podrian deberse al pequeno numero de mujeres estudiadas. EnglishBackground: Mitochondrial and oxidative stress has been related to obesity and breast cancer being this cancer more frequent and more aggressive in postmenopausal women with obesity. Objective: The objective of this study was to investigate whether Mexican-Mestizo postmenopausal women with breast cancer and obesity present different somatic mutations in the mitochondrial DNA (mtDNA) when compared to women with normal body mass index (BMI). Subjects and Methods: We included six Mexican-Mestizo postmenopausal women bearing breast cancer and who underwent mastectomy or breast-conserving surgery. BMI was determined in each case. Patients’ genomic DNA was isolated from blood leukocytes and tumor tissue samples. Whole mtDNA sequence was determined by MitoChip v2.0 mitochondrial resequencing array, and data were analyzed using the GeneChip Sequence Analysis Software. Tumor mtDNA sequence was compared with matched leukocyte mtDNA sequence. Results: Three women had a normal BMI and three presented obesity. Overall, we found 64 genetic variants: 53.1% were somatic mutations and 46.9% were polymorphisms; 44.1% were in the non-coding region and 55.9% were in genes that encode for mitochondrial proteins. Among the somatic mutations, 67.7% were in patients with normal BMI and 32.3% in patients with obesity. Conclusions: We did not find a higher frequency of mitochondrial somatic mutations in postmenopausal women with breast cancer and obesity compared to those with normal BMI. However, results could be due to the small number of women studied. (REV INVEST CLIN. 2019;71:237-45)