Publications by authors named "Luis R Macias Kauffer"

The loss of function melanocortin 4-receptor () Ile269Asn mutation has been proposed as one of the most important genetic contributors to obesity in the Mexican population. However, whether patients bearing this mutation respond differently to weight loss treatments is unknown. We tested the association of this mutation with obesity in 1683 Mexican adults, and compared the response of mutation carriers and non-carriers to three different weight loss interventions: dietary restriction intervention, phentermine 30 mg/day treatment, and Roux-en-Y gastric bypass (RYGB) surgery.

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Background: Cognitive impairment in schizophrenia (SCZ) is a core feature, relevant for the disease prognosis and functional capacity of the patients. It has also been identified as an endophenotype and proposed as a genetic mechanism of risk for schizophrenia.

Aim Of The Study: We aimed to evaluate the association of genetic variants in COMT, PRODH, and DISC1 with the cognitive performance of Mexican-Mestizo adult patients with SCZ in order to identify endophenotypes.

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Dietary fiber (DF) is a major substrate for the gut microbiota that contributes to metabolic health. Recent studies have shown that diet-metabolic phenotype effect might be related to individual gut microbial profiles or enterotypes. Thus, the aim of this study was to examine whether microbial enterotypes modify the association between DF intake and metabolic traits.

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Neuromyelitis Optica Spectrum Disorder (NMOSD) is a demyelinating autoimmune disease of the central nervous system, more prevalent in individuals of non-European ancestry. Few studies have analyzed genetic risk factors in NMOSD, and HLA class II gene variation has been associated NMOSD risk in various populations including Mexicans. Thymopoietin () has not been tested as a candidate gene for NMOSD or other autoimmune disease, however, experimental evidence suggests this gene may be involved in negative selection of autoreactive T cells and autoimmunity.

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Article Synopsis
  • A study was conducted to find genetic variants linked to low HDL-C levels in Mexicans, identifying four significant loci, including a notable variant in the SIDT2 gene.
  • The SIDT2/Val636Ile variant is more common in Native American populations and is associated with improved cholesterol levels and a lower risk of premature coronary artery disease.
  • The findings suggest that SIDT2 plays a crucial role in cholesterol metabolism, providing new insights into the genetics of HDL-C and its relationship to heart health in the Mexican population.
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Neuromyelitis Optica (NMO) is an autoimmune disease with a higher prevalence in non-European populations. Because the Mexican population resulted from the admixture between mainly Native American and European populations, we used genome-wide microarray, HLA high-resolution typing and AQP4 gene sequencing data to analyze genetic ancestry and to seek genetic variants conferring NMO susceptibility in admixed Mexican patients. A total of 164 Mexican NMO patients and 1,208 controls were included.

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Genome-wide association studies (GWAS) have identified copy number variants (CNVs) associated with obesity in chromosomal regions 1p31.1, 10q11.22, 11q11, 16p12.

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Article Synopsis
  • The study investigates the relationship between serum uric acid (SUA) levels and cardiovascular disease risk in a Mexican population, as previous research has primarily focused on Europeans.
  • It identifies two genetic loci, SLC2A9 and ABCG2, linked to SUA levels but finds no significant interaction with obesity, though a notable sex difference in adults was observed.
  • The results suggest that while elevated SUA is correlated with premature coronary artery disease and related health issues, the genetic variants studied do not indicate a direct causal relationship with premature CAD.
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Non-alcoholic fatty liver disease (NAFLD) is the accumulation of extra fat in liver cells not caused by alcohol. Elevated transaminase levels are common indicators of liver disease, including NAFLD. Previously, we demonstrated that PNPLA3 (rs738409), LYPLAL1 (rs12137855), PPP1R3B (rs4240624), and GCKR (rs780094) are associated with elevated transaminase levels in overweight/obese Mexican adults.

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Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful approach to identify other obesity-susceptibility variants.

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Background And Aims: Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near/in PNPLA3, NCAN, LYPLAL1, PPP1R3B, and GCKR genes associated with non-alcoholic fatty liver disease (NAFLD) mainly in individuals of European ancestry. The aim of the study was to test whether these genetic variants and a genetic risk score (GRS) are associated with elevated liver fat content and non-alcoholic steatohepatitis (NASH) in Mexicans with morbid obesity.

Methods: 130 morbidly obese Mexican individuals were genotyped for six SNPs in/near PNPLA3, NCAN, LYPLAL1, PPP1R3B, and GCKR genes.

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by mutations in the thymidine phosphorylase gene located on chromosome 22q13.32-ter, causing defective functioning of the enzyme. At present 87 sporadic or familial cases have been reported and 52 different mutations identified.

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Objective: To evaluate the efficacy of PCR in the diagnosis of extrapulmonary tuberculosis (TB) and its impact in the management of patients in a tertiary-care center in Mexico City.

Method: We conducted a retrospective study based on 40 clinical charts of patients to whom nested PCR was performed for the diagnosis of TB from June 1999 to December 2000. We reviewed the medical notes of 10 days before and 10 days after the PCR study to analyze its impact in the management of the patient.

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