The RANKL rs12585014 polymorphism is associated with age at menarche in postmenopausal women with hip fracture.

The RANK/RANKL/OPG signaling is important in the regulation of bone turnover. The aim of the present work was to analyze the rs3018362 and rs12585014 polymorphisms in the RANK and RANKL genes, as well as risk factors in postmenopausal women. Women with hip fracture, with femoral neck osteoporosis and controls (n = 646) were recruited. From these, 303 women who fulfill the inclusion criteria were genotyped using real-time PCR with TaqMan probes. There were no associations of the rs3018362 and rs12585014 with osteoporosis or fracture. When women were divided by age at menarche, the rs12585014 GG genotype was strongly associated with age at menarche >13 years [p = .00774, OR = 6.429 (1.907-21.103)] in women with hip fracture. Significant differences in risk factors such as body mass index, age at menopause, use of estrogens, the presence of hypertension, and diabetes mellitus were found. Carrying the GG genotype of rs12585014 entails a higher risk of having menarche later (>13 years), which could involves a greater risk of fractures. The rs3018362 and rs12585014 do not seem to be associated with hip osteoporosis or hip fracture in Mexican women.

Frecuencia de la hemoglobina S en cinco poblaciones mexicanas y su importancia en la salud pública / Hemoglobin S frequency in five Mexican populations and its importance in public health

OBJETIVO: Informar la frecuencia de heterocigotos para la hemoglobina S (HbS) en cinco poblaciones mexicanas y el haplotipo en cinco muestras con HbS y subrayar su relevancia en la salud pública. MATERIAL Y MÉTODOS: Se tomó una muestra de sangre periférica en 162 individuos no relacionados provenientes de tres poblaciones nahuas (Atocpan y Tlacotenco, DF, e Ixhuatlancillo, Veracruz), y en 131 mestizos (Coyolillo y Poza Rica, Veracruz), previo consentimiento informado. Se determinó el tipo de hemoglobina por electroforesis y se extrajo el DNA de leucocitos de cinco muestras en las que se determinó el haplotipo por PCR y corte con restrictasas. RESULTADOS: Entre los nahuas se reconoció un heterocigoto HbAS (0.6 por ciento) y 18 en mestizos (13.7 por ciento). Se identificaron cuatro haplotipos Bantu y uno Benin. CONCLUSIONES: Estos hallazgos son importantes en términos de la salud pública en poblaciones con alta frecuencia de HbS, para dar información y consejo genético a los portadores y la atención médica oportuna y adecuada a los pacientes.

OBJECTIVE: To provide information regarding the heterozygote frequency for hemoglobin S (HbS) in five Mexican populations, the Haplotype in five S chromosomes, and underscore its importance for public health. MATERIAL AND METHODS: A total of 162 samples from three Nahua populations (Atocpan and Tlacotenco, DF, and Ixhuatlancillo, Veracruz) and 131 from mestizo populations (Coyolillo and Poza Rica, Veracruz) were studied after obtaining informed consent. The hemoglobin type was determined by electrophoresis, and DNA in leucocytes was obtained from five HbS samples. The haplotype was determined by PCR and cut with restrictases, according to literature. RESULTS:We found one heterozygote for hemoglobin S (0.6 percent) among Nahua and 18 among Mestizo groups (13.7 percent). Four haplotypes were Bantu and one was Benin. CONCLUSIONS: These findings are important to public health for populations with a high frequency of HbS, to inform and provide genetic counseling for carriers and medical attention to patients.

Genetic structure of Mexican Mestizo women with breast cancer based on three STR loci.

The aim of this population genetics study was to compare the genetic structure of Mexican women with breast cancer (BrCa) with previously reported data of four random populations (Nuevo León, Hispanics, Chihuahua, and Central Region of Mexico). A sample of 115 unrelated women with BrCa and whose four grandparents were born in five zones of Mexico were interviewed at a reference hospital in Northeastern Mexico. Noncodifying STRs D7S820, D13S317, and D16S39 were analyzed; genotype distribution was in agreement with Hardy-Weinberg expectations for all three markers. Similar allele frequencies among four random populations and this selected population were found. According with this and previous studies using molecular and nonmolecular nuclear DNA markers not associated with any disease, Mexican Mestizo population is genetically homogeneous and therefore, genetic causes of BrCa are less heterogeneous, simplifying genetic epidemiologic studies.