Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes.

The performance of professional strength and power athletes is influenced, at least partly, by genetic components. The main aim of this study was to investigate individually and in combination the association of ACE (I/D), ACTN3 (R577X) and PPARGC1A (Gly482Ser) gene polymorphisms with strength/power-oriented athletes' status in two cohorts of European athletes. A cohort of European Caucasians from Russia and Lithuania (161 athletes: by groups - weightlifters (87), powerlifters (60), throwers (14); by elite status - 'elite' (104), 'sub-elite' (57); and 1,202 controls) were genotyped for ACE, ACTN3 and PPARGC1A polymorphisms. Genotyping was performed by polymerase chain reaction and/or restriction fragment length polymorphism analysis. Statistically significant differences in ACTN3 (R577X) allele/genotype distribution were not observed in the whole cohort of athletes or between analysed groups separately when compared with controls. The odds ratio for athletes compared to controls of the ACE I/I genotype was 1.71 (95% CI 1.01-2.92) in the Russian cohort and for the ACE I/D genotype it was 2.35 (95% CI 1.10-5.06) in the Lithuanian cohort. The odds ratio of being a powerlifter in PPARGC1A Ser/Ser genotype carriers was 2.11 (95% CI: 1.09-4.09, P = 0.026). The ACTN3 (R577X) polymorphism is not associated with strength/power athletic status in two cohorts of European athletes. The ACE I/I genotype is probably the 'preferable genotype' for Russian athletes and the ACE I/D genotype for Lithuanian strength/power athletes. We found that the PPARGC1A (Gly482Ser) polymorphism is associated with strength/power athlete status. Specifically, the PPARGC1A Ser/Ser genotype is more favourable for powerlifters compared to controls.

Haemorrhoids and anal fissures during pregnancy and after childbirth: a prospective cohort study.

OBJECTIVE: To identify the incidence and risk factors of haemorrhoids and fissures during pregnancy and after childbirth. DESIGN: Prospective observational cohort study. SETTING: University hospital and outpatient clinics in Lithuania. POPULATION: A total of 280 pregnant women followed up until 1 month after delivery. METHODS: Women were examined four times through pregnancy and after delivery; those that developed peri-anal diseases were compared with those that did not. MAIN OUTCOME MEASURES: Incidence, time and risk factors of haemorrhoids and fissures. RESULTS: In all, 123 (43.9%) women developed peri-anal disease: 1.6% in the first trimester, 61% during the third trimester, 34.1% after delivery and 3.3% 1 month after delivery; 114 (40.7%) women were diagnosed with haemorrhoids, seven (2.5%) with haemorrhoids and anal fissure and two (0.71%) with anal fissure. Ninety-nine (80.5%) women had vaginal delivery and 24 (19.5%) women had undergone caesarean section. Multivariate analysis identified personal history of peri-anal diseases (odds ratio [OR] 11.93; 95% confidence interval [95% CI] 2.18-65.30), constipation (OR 18.98; 95% CI 7.13-50.54), straining during delivery for more than 20 minutes (OR 29.75; 95% CI 4.00-221.23) and birthweight of newborn>3800 g (OR 17.99; 95% CI 3.29-98.49) as significant predictors of haemorrhoids and anal fissures during pregnancy and perinatal period. CONCLUSIONS: Haemorrhoids and fissures are common during the last trimester of pregnancy and 1 month after delivery, with constipation, personal history of haemorrhoids or fissures, birthweight of newborn>3800 g, straining during delivery for more than 20 minutes being independently associated risk factors.

RTN4 and FBXL17 Genes are Associated with Coronary Heart Disease in Genome-Wide Association Analysis of Lithuanian Families.

Coronary heart disease (CHD) is a complex and heterogeneous cardiovascular disease. There are many genome-wide association studies (GWAS) performed worldwide to extract the causative genetic factors. Moreover, each population may have some exceptional genetic characteristic. Thus, the background of our study is from the previous Lithuanian studies (the LiVicordia Project), which demonstrated the differences of the atherosclerosis process between Lithuanian and Swedish male individuals. In this study we performed GWAS of 32 families of Lithuanian origin in search of significant candidate genetic markers [single nucleotide polymorphisms (SNPs)] of CHD in this population. After careful clinical and biochemical phenotype evaluation, the ∼770K SNPs genotyping (Illumina HumanOmniExpress-12 v1.0 array) and familial GWAS analyses were performed. Twelve SNPs were found to be significantly associated with the CHD phenotype (p value <0.0001; the power >0.65). The odds ratio (OR) values were calculated. Two SNPs (rs17046570 in the RTN4 gene and rs11743737 in the FBXL17 gene) stood out and may prove to be important genetic factors for CHD risk. Our results correspond with the findings in other studies, and these two SNPs may be the susceptibility loci for CHD.