Prevalencia del haplotipo de riesgo GA de los polimorfismos rs1554483 y rs4864548 del gen CLOCK asociados a la obesidad y el sobrepeso en 26 poblaciones / Prevalence of the GA risk haplotype of the rs1554483 and rs4864548 polymorphisms of the CLOCK gene associated with obesity and overweight in 26 populations

Introducción: el haplotipo GA de los polimorfismos rs1554483 y rs4864548 se ha asociado con componentes del síndrome metabólico como la hipertensión arterial y los niveles de triglicéridos. Sus portadores presentan un riesgo de obesidad 1,5 veces mayor que el resto de la población. Metodología: se obtuvieron los SNP rs1554483 y rs4864548 de 2504 individuos desde la base de datos “1000genomes phase 3”. Los datos se agruparon en cinco macropoblaciones (África, Asia Oriental, Asia Meridional, Europa y Latinoamérica) cubriendo un total de 26 poblaciones. Se analizaron las diferencias en la frecuencia del haplotipo entre las macropoblaciones y las poblaciones, para lo cual se utilizó el estadístico F de Fisher. Resultados: la macropoblación de África presentó la menor frecuencia (17,9 %) y la del Este de Asia la mayor (57,4 %). Dentro de las poblaciones existe una relativa homogeneidad en las frecuencias, excepto en el caso de las que componen la macropoblación de Latinoamérica, donde la población peruana de Lima y la puertorriqueña presentan frecuencias mucho mayores que el resto. Conclusiones: el haplotipo GA presenta heterogeneidad entre las macropoblaciones, lo que sugiere procesos microevolutivos altamente diferenciados entre los continentes. Se propone estudiar la asociación del haplotipo GA con otros polimorfismos, como rs3749474, rs11932595 y rs6859524, que también se han asociado con el riesgo de obesidad y factores asociados al síndrome metabólico. (AU)

Introduction: the GA haplotype of polymorphisms rs1554483 and rs4864548 has been associated with components of the metabolic syndrome such as high blood pressure and triglyceride levels; its carriers have a risk of obesity, 1.5 times higher than the rest of the population. Methodology: SNP rs1554483 and rs4864548 were obtained from 2504 individuals from the "1000genomes phase 3" database. Data were grouped into five macro populations (Africa, East Asia, South Asia, Europe and Latin America) covering a total of 26 populations. Differences in haplotype frequency between macro populations and populations were analyzed, for which Fisher's F statistic was used. Results: the macro population of Africa presented the lowest frequency (17.9 %) and that of East Asia the highest (57.4 %). Within the populations there is a relative homogeneity in the frequencies, except in the case of those that make up the macro population of Latin America where the Peruvian population of Lima and the Puerto Rican population present much higher frequencies than the rest. Conclusions: the GA haplotype presents heterogeneity between macro populations, which suggests highly differentiated micro evolutionary processes between continents. We propose to study the association of the GA haplotype with other polymorphisms such as rs3749474, rs11932595 and rs6859524 that have also been associated with risk of obesity and factors associated with metabolic syndrome. (AU)

[Prevalence of the GA risk haplotype of the rs1554483 and rs4864548 polymorphisms of the CLOCK gene associated with obesity and overweight in 26 populations]. / Prevalencia del haplotipo de riesgo GA de los polimorfismos rs1554483 y rs4864548 del gen CLOCK asociados a la obesidad y el sobrepeso en 26 poblaciones.

Introduction: Introduction: the GA haplotype of polymorphisms rs1554483 and rs4864548 has been associated with components of the metabolic syndrome such as high blood pressure and triglyceride levels; its carriers have a risk of obesity, 1.5 times higher than the rest of the population. Methodology: SNP rs1554483 and rs4864548 were obtained from 2504 individuals from the "1000genomes phase 3" database. Data were grouped into five macro populations (Africa, East Asia, South Asia, Europe and Latin America) covering a total of 26 populations. Differences in haplotype frequency between macro populations and populations were analyzed, for which Fisher's F statistic was used. Results: the macro population of Africa presented the lowest frequency (17.9 %) and that of East Asia the highest (57.4 %). Within the populations there is a relative homogeneity in the frequencies, except in the case of those that make up the macro population of Latin America where the Peruvian population of Lima and the Puerto Rican population present much higher frequencies than the rest. Conclusions: the GA haplotype presents heterogeneity between macro populations, which suggests highly differentiated micro evolutionary processes between continents. We propose to study the association of the GA haplotype with other polymorphisms such as rs3749474, rs11932595 and rs6859524 that have also been associated with risk of obesity and factors associated with metabolic syndrome.

Introducción: Introducción: el haplotipo GA de los polimorfismos rs1554483 y rs4864548 se ha asociado con componentes del síndrome metabólico como la hipertensión arterial y los niveles de triglicéridos. Sus portadores presentan un riesgo de obesidad 1,5 veces mayor que el resto de la población. Metodología: se obtuvieron los SNP rs1554483 y rs4864548 de 2504 individuos desde la base de datos "1000genomes phase 3". Los datos se agruparon en cinco macropoblaciones (África, Asia Oriental, Asia Meridional, Europa y Latinoamérica) cubriendo un total de 26 poblaciones. Se analizaron las diferencias en la frecuencia del haplotipo entre las macropoblaciones y las poblaciones, para lo cual se utilizó el estadístico F de Fisher. Resultados: la macropoblación de África presentó la menor frecuencia (17,9 %) y la del Este de Asia la mayor (57,4 %). Dentro de las poblaciones existe una relativa homogeneidad en las frecuencias, excepto en el caso de las que componen la macropoblación de Latinoamérica, donde la población peruana de Lima y la puertorriqueña presentan frecuencias mucho mayores que el resto. Conclusiones: el haplotipo GA presenta heterogeneidad entre las macropoblaciones, lo que sugiere procesos microevolutivos altamente diferenciados entre los continentes. Se propone estudiar la asociación del haplotipo GA con otros polimorfismos, como rs3749474, rs11932595 y rs6859524, que también se han asociado con el riesgo de obesidad y factores asociados al síndrome metabólico.

Functional CLOCK gene rs1554483 G/C polymorphism is associated with susceptibility to Alzheimer's disease in the Chinese population.

OBJECTIVE: To examine the association between the circadian locomotor output cycles kaput (CLOCK) gene rs1554483 G/C polymorphism and susceptibility to Alzheimer's disease in Chinese people. METHODS: This case-control study determined apolipoprotein E (APOE) and CLOCK rs1554483 G/C genotypes using polymerase chain reaction restriction fragment length polymorphism. RESULTS: Unrelated patients with Alzheimer's disease (n = 130) and healthy controls (n = 188) were analysed for an association between the CLOCK gene rs1554483 G/C polymorphism and susceptibility to Alzheimer's disease. In the whole sample and in APOE ε4 isoform noncarriers, the prevalence of CLOCK gene rs1554483 G allele carriers was significantly higher in patients with Alzheimer's disease than in controls. Among APOE ε4 carriers, the prevalence of CLOCK rs1554483 G allele carriers was not significantly different between patients with Alzheimer's disease and controls. CONCLUSION: Among APOE ε4 noncarriers, but not APOE ε4 carriers, the CLOCK rs1554483 G allele was associated with increased susceptibility to Alzheimer's disease.