There are currently about 415 million people with diabetes worldwide, a figure likely to increase to 642 million by 2040. In 2015, Mexico was the second Latin American country and sixth in the world ...in prevalence of this disorder with nearly 11.5 million of patients. Type 2 diabetes (T2D) is the main kind of diabetes and its etiology is complex with environmental and genetic factors involved. Indeed, polymorphisms in several genes have been associated with this disease worldwide. To estimate the genetic epidemiology of T2D in Mexican mestizos a systematic bibliographic search of published articles through PubMed, Scopus, Google Scholar, and Web of Science was conducted. Just case-control studies of candidate genes about T2D in Mexican mestizo inhabitants were included. Nineteen studies that met the inclusion criteria were found. In total, 68 polymorphisms of 41 genes were assessed; 26 of them were associated with T2D risk, which were located in ABCA1, ADRB3, CAPN10, CDC123/CAMK1D, CDKAL1, CDKN2A/2B, CRP, ELMO1, FTO, HHEX, IGF2BP2, IRS1, JAZF1, KCNQ1, LOC387761, LTA, NXPH1, SIRT1, SLC30A8, TCF7L2, and TNF-α genes. Overall, 21 of the 41 analyzed genes were associated with T2D in Mexican mestizos. Such a genetic heterogeneity compares with findings in other ethnic groups.
Methylenetetrahydrofolate reductase (
) gene polymorphisms have been associated with overweight people and obesity. The goal of this study was to investigate the relationship of the
677C>T ...polymorphism with obesity and biochemical variables in young individuals of Mexico.
A total of 316 young individuals were included in the study, 172 with normal weight (NW) and 144 with over weight/obesity. Body mass index (BMI) was classified as NW, overweight, and obesity. Also, waist circumference was measured. Moreover, glucose, total cholesterol, and triglycerides were determined. Genotyping for
677C>T polymorphism was performed by the PCR-RFLP method.
There was no difference in the distribution of the
677C>T polymorphism between individuals with NW and overweight/obesity; neither when they were divided by overweight vs NW, nor when we contrasted obese vs NW. However, an analysis stratified by gender showed a significant protector effect of the TT genotype against obesity in males and elevated waist circumference in females. Also, overweight/obese individuals with TT genotype had less risk of high cholesterol or triglycerides than overweight/obese subjects with the other genotypes.
These results suggest that the
677T polymorphism might not be a risk factor for being overweight/obesity. Rather, on the basis of our results, this variant could be a protector effect. However, further large-scale population-based studies are still necessary to clarify the role of the
677C>T polymorphism in overweight, obesity, and lipid profile level.
El sobrepeso y la obesidad afectan a más 340 millones de niños y adolescentes alrededor del mundo, lo que constituye un problema grave de salud pública. La obesidad es una enfermedad multifactorial ...ocasionada principalmente por mala alimentación y baja actividad física, aunque también existen factores genéticos que desempeñan un papel importante en su desarrollo. El objetivo fue realizar una revisión bibliográfica para identificar genes asociados con sobrepeso y obesidad en niños y adolescentes mexicanos. El 36% de los genes analizados, 8/22, mostraron asociación significativa para sobrepeso/obesidad, dichos genes son: FGF21, FTO, GNPDA2, HP, MC4R, PAI1, PCSK1 y PON1. Entonces, se puede afirmar que la genética tiene un rol importante en la etiología del sobrepeso y la obesidad en niños y adolescentes mexicanos. Sin embargo, se debe recordar que la alimentación hipercalórica y la falta de ejercicio, siguen siendo las causas principales del sobrepeso y la obesidad común alrededor del mundo.
Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and ...growth retardation. Monosomy 4q3 includes a wide variety of dysmorphic features such an abnormal skull shape, hypertelorism, Pierre Robin sequence, short nose with abnormal bridge, fifth finger clinodactyly, congenital heart, and genitourinary defects, in addition to intellectual disability, developmental delay, and hypotonia, but more distal deletions involving 4q34-qter may result in milder phenotypes. Here, we present a child with a mild dysmorphic syndrome, resulted of a duplication 2q34-qter and a deletion 4q35.2-qter inherited of his father.
We report a child, who at birth presented hypotonia, dysmorphism, and bilateral cryptorchidism. At 2 years and 9 month of age he showed brachycephaly, narrow forehead, bilateral frontoparietal hypertrichosis, down slanting palpebral fissures, sparse eyebrows, sparse short eyelashes, hypertelorism, depressed nasal root, broad nasal bridge, bulbous nasal tip, prominent colummela, broad nasal ala, smooth filtrum, high arched palate, thin upper lips, and ears rotated backwards. He also showed telethelia, hypertrichosis from dorsal to the sacral region, hands with clinodactyly and hypoplasia of the terminal phalanx of the fifth finger, and broad thumbs, broad first toes, and right cryptorchidism. A chromosomal study revealed a karyotype 46,XY,der(4)t(2;4)(q34;q35.2), while an array comparative genomic hybridization showed a 31.12 Mb duplication of the chromosome 2q34-q37.3 and a 1.49 Mb deletion in the chromosome 4q35.2.
To our knowledge, only four families with translocation t(2;4) have been reported, two of them involving t(2q;4q), but the breakpoints involved in our patient have not been previously observed. The genomic imbalance in this patient was a duplication of 318 genes of the region 2q34-q37.3 and a deletion of 7 genes of 4q35.2. We discuss difficulty to assign specific congenital abnormalities to these duplicated/deleted regions and include some cases with terminal deletions of 4q with normal or just mildly detectable phenotypic effects.
Abstract
Background
4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo
.
The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal ...alterations, heart malformations, developmental delay, growth retardation, Pierre Robin sequence, autistic spectrum and attention deficit-hyperactivity disorder, although not every patient shows the same features. Array comparative genomic hybridization (aCGH) use improves the detection of tiny chromosomal deletions and allows for a better understanding of genotype–phenotype correlations in affected patients. We report the case of a 6-year-old female patient showing mild dysmorphic features, mild mental disabilities and a coagulation disorder as a consequence of a de novo del(4)(q34.1) characterized by aCGH.
Case presentation
A 6-year-old female patient exhibited special craniofacial features, such as backward-rotated ears, upslanted palpebral fissures, broad nasal bridges, anteverted nares, broad nasal alae, smooth philtrums, smooth nasolabial folds, thin lips, horizontal labial commissures, and retrognathia. In the oral cavity, maxillary deformation, a high arched palate, agenesis of both mandibular canines and fusion of two mandibular incisors were observed. She also displayed bilateral implantation of the proximal thumbs, widely spaced nipples, dorsal kyphosis, hyperlordosis, and clitoral hypertrophy. In addition, the patient presented with coagulopathy, psychomotor delay, attention deficit-hyperactivity disorder, and mild mental disability. A chromosomal study showed the karyotype 46,XX,del(4)(q34.1), while an aCGH analysis revealed an 18.9 Mb deletion of a chromosome 4q subtelomeric region spanning 93 known genes.
Conclusion
The clinical manifestations of this patient were similar to those reported in other individuals with 4q deletion syndrome. Although most of the patients with a 4q34 terminal deletion share similarities, variations in phenotype are also common. In general, clinical effects of chromosomal deletion syndromes depend on the length of the deleted chromosomal segment and, consequently, on the number of lost genes; however, in all of these syndromes, there is no simple correlation between the phenotype and the chromosomal region involved, particularly in cases of 4q deletion.
transcripts, the molecular hallmarks of chronic myeloid leukemia (CML), have been detected in peripheral blood from healthy individuals. Although CML is a sporadic disease, familial occurrence has ...been reported. This raises the question of whether there is a hereditary factor related to the etiology of CML. Our aim is to compare the
e13a2 and e14a2 transcript frequency in healthy first-degree relatives of families with CML versus individuals from families without CML antecedents. Ninety-eight healthy individuals, sorted into two groups, were studied: a group consisting of 46 first-degree relatives from families having a CML affected, and another with 52 healthy individuals from families without CML antecedents.
e13a2 and e14a2 transcripts were detected in mRNA isolated from peripheral blood leukocytes. We observed 28 of 98 individuals positive for at least one
transcript: e14a2 was detected in 22, e13a2 in 4, and co-expression was observed in 2 subjects. The positivity rate in relatives of CML cases was 33%, whereas individuals without CML antecedents had a 25% positivity rate, showing no statistical difference. Our results corroborate the presence of e13a2 and e14a2
transcripts in the peripheral blood of healthy individuals, but has not a found familial factor related to the etiology of this rearrangement.
The C677T polymorphism of the MTHFR gene has been frequently associated with acute lymphoblastic leukaemia (ALL) around the world. Therefore, the objective of this study was to determine whether the ...MTHFR C677T polymorphism is associated with ALL in Mexican children and adults. A case-control study was conducted on 243 patients with ALL (136 children and 107 adults) and 379 healthy controls. Genotyping of the C677T polymorphism was performed by the polymerase chain reaction-restriction fragment length polymorphism method. The frequency of the T allele was forty-three percent, fifty-two percent, and forty-six percent in children, adults, and controls, respectively. No risk of ALL was found for T allele carriers in children OR=0.81 (0.52-1.25), P=0.33, but an increased risk was detected in adults OR=4.98 (2.24-11.10), P<0.001. The findings in children agree with most of the studies but are discordant with those reported in adults. These differences could be due to ethnicity, genetic background, sampling, and methodology.
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