ABSTRACT. The TP53 tumor suppressor gene plays an important role in cell cycle regulation; polymorphisms of this gene have been associated with endometriosis. We examined the role of TP53 codon 72 polymorphism by comparing genotypes of 235 healthy Mexican women (controls with surgically excluded endometriosis) with the genotypes of 151 Mexican women with endometriosis. The observed genotype frequencies for controls and endometriosis patients were 8 and 22% for proline/proline (Pro/Pro), 30 and 34% for proline/arginine (Pro/Arg), and 62 and 44% for arginine/arginine (Arg/Arg), respectively. We found that odds ratio (OR) = 3.3; 95% confidence intervals (95%CI) = 1.7-6.4; P = 0.0001. The association was also evident in the comparison of the distributions of genotypes Pro/Pro and Pro/Arg in patients with moderate-to-severe endometriosis; OR = 1.9; 95%CI = 0.95-3.9; P = 0.049. We suggest M.P. Gallegos-Arreola et al. 1401-1408 (2012) 1402that genotype Pro/Pro of codon 72 polymorphism in TP53 contributes significantly to endometriosis susceptibility in the Mexican population.

ABSTRACT. PPARD encodes for peroxisome proliferator-activated receptor delta, which plays a significant role in controlling lipid metabolism, atherosclerosis, inflammation, cancer growth, progression, and apoptosis. Accumulated evidence suggests that the polymorphism rs2016520 in PPARD is associated with lipid metabolism, obesity, metabolic syndrome, and type 2 diabetes mellitus. The aim of this study was to determine whether the single nucleotide polymorphism +294T/C (rs2016520) in PPARD is associated with colorectal cancer (CRC) in the Mexican population. Genomic DNA from 178 CRC patients and 97 healthy blood donors was analyzed. The polymorphism was identified by the polymerase chain reaction-restriction fragment length polymorphism method. Results demonstrated that patients with the T/C genotype for the +294T/C (rs2016520) polymorphism present a protective role against CRC [odds ratio (OR) = 0.39; 95% confidence interval (CI) = 0.22-0.69; P = 0.0008]. This association was also evident for the T/C genotype in the stratified analysis by tumor-nodemetastasis stages I+II (OR = 0.26, P = 0.0332) and III+IV (OR = 0.44, P = 0.0067). However, in the stratified analysis by tumor location, we observed an increased risk of rectal cancer (OR = 7.57, P = 0.0403) vs colon cancer (OR = 4.87, P = 0.234) in patients carrying the C/C genotype and under the dominant and recessive models of inheritance.In conclusion, for the first time, the association between the +294T/C (rs2016520) polymorphism and colorectal cancer has been studied in Mexican patients. Our results reveal that variations in PPARD may play a significant role in genetic susceptibility to colorectal cancer.

Background: Persistent pulmonary hypertension of a newborn (PPHN) is a serious condition with a high morbidity and mortality rate, with a complex therapeutic approach. Recently, genetic associations have been found in patients with PPHN, the role of some polymorphisms that explain its pathogenesis has not been well defined. Objective: To determine the frequency of association of SOD2 gene polymorphisms (rs5746136 C>T) in PPHN in the Mexican population. Methods: We included 155 Mexican infants; 76 with PPHN, confirmed by echocardiography (study group), and 79 healthy newborns (control group) and by polymerase chain reaction (PCR) and RFLPs was identified the rs5746136 polymorphism in SOD2 gene. Results: The group with PPHN had a lower gestational age (35.6 ± 2.81 weeks versus 38.1 ± 1.9; P=0.008) and a lower mean body weight (2,622 ± 626 g versus 2,992 ± 565 g, P=0.052) than the controls respectively. The rs5746136 C>T polymorphism was associated with PPHN susceptibility, when PPHN patients and the control group were compared for the TT genotype (OR 8.1, 95%CI 2.65-24.9; P=0.0001), the CT/TT genotype (OR 6.5, 95% CI 3.12-13.5; P=0.0001), and the T allele (OR 4.3, 95% CI 2.63-7.02; P=0.0001). Conclusion: We found significant differences in the association of rs5746136 C>T polymorphism of SOD2 gene in PPHN of the Mexican population analyzed.