Evidence for Association of the rs17822931-A Allele in ABCC11 with a Decreased Risk of Estrogen Receptor-negative Breast Cancer

The rs17822931 SNP of the human ABCC11 gene determines earwax types, and is also associated with some functions of apocrine glands, including the mammary gland. Nevertheless, whether the ABCC11 polymorphism is correlated with estrogen receptor (ER) status of breast cancer (BC) remains unclear. To investigate the correlation between rs17822931 and BC, we screened the genotypes in a total of 276 and 295 histological BC samples collected from Japanese and Ukrainian BC patients, and 269 and 264 ethnically-matched healthy individuals, respectively, using TaqManTM PCR. Genotype frequencies at rs178229131 in Japanese and Ukrainian BC patients were not significantly different from those in their respective control populations. Consistently, no correlation between rs178229131 and the susceptibility to BC was found. The AA genotype, which corresponds to dry earwax, occurred less frequently in ER -negative BC in Japanese [odds ratio, 0.48; 95% confidential interval, 0.29-0.80] but not in Ukrainian patients although a similar correlation was weakly observed. Our results indicate that the rs178229131-A allele may be important in reducing the risk of ER -negative BC development

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations

We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotruncal heart defect, a polycystic right kidney, and an umbilical hernia. She died at the age of 6 months of cardio-respiratory failure. Cytogenetic examination demonstrated a derivative chromosome 12 replacing one of the two chromosomes 22. The paternal karyotype was normal 46,XY while the mother's karyotype was 46,XX,rcp(12;22)(q13.2;q11.2). According to the published data, all patients with deletion 22q11.2 combined with other unbalanced chromosomal aberration have a more severe clinical expression than those with interstitial deletions

Polimorficzne warianty genów MTHFR C667T oraz PAI-1 5G/4G oraz ich kombinacje w grupie dzieci z udarem niedokrwiennym mózgu

Introduction. Arterial ischemic stroke (AIS) in childhood is a disorder associated with different predisposing factors, thrombophilia is one of them. We present the study of the MTHFR C677T and PAI-1 5G/4G gene polymorphisms as a possible risk factor for the development of AIS in the group of Ukrainian children. Materials and methods. 77 children from 29 days to 15 years of age were involved in this study: study group - 44 children with AIS, and 33 in a control group. Children enrolled to both groups were at similar age. Results. In the study group there was an increase in the frequency of genotypes 677CT (OR = 2.69) and 677TT, CT + TT genotypes (OR = 3.67) of the MTHFR gene, increased frequency of the 677T allele (OR = 2.57). In the study group detection of 5G/5G + 5G/4G genotypes was higher (OR = 2.82) with statistically predominance of the 5G allele (OR = 2.26) of the gene PAI -1. Higher frequency of the combination of genotypes genes 677CT + 5G/5G was found in the main group. The model of interpreting interactions was built, it allows to predict indirectly the potential intergenic interactions. Conclusions. We conclude that risk of AIS is higher in children with polymorphic variants 677CT and 677TT for the MTHFR gene; the association of polymorphic variants 5G/4G and 5G/5G for the PAI-1 gene with a decrease in the risk of developing AIS; direct interaction with the MTHFR was found for PAI-1, but of weak strengthWstęp: Udar niedokrwienny (AIS) jest rzadkim schorzeniem wieku dziecięcego, które wiąże się z różnymi czynnikami predysponującymi. Trombofilia jest jedną z ustalonych predyspozycji genetycznych do udaru w populacji pediatrycznej. Cel: Przedstawiamy badanie polimorfizmów genów MHFR C677T i PAI-1 5G / 4G jako potencjalnego czynnika ryzyka rozwoju AIS indywidualnie i łącznie w grupie dzieci ukraińskich. Materiał i metody Badaniem objęto 77 dzieci w wieku od 29 dni do 15 lat: grupa badana - 44 dzieci z AIS oraz grupa kontrolna - 33 dzieci zakwalifikowanych do obu grup znajdowały się w podobnym wieku. Wyniki: W badanej grupie stwierdzono większą częstość genotypów 677CT (OR = 2,69) i 677TT, genotypów CT + TT (OR = 3,67) genu MTHFR oraz większą częstość allelu 677T (OR = 2,57). W analizowanej grupie wykrywalność genotypów 5G / 5G + 5G / 4G była wyższa (OR = 2,82) przy statystycznej przewadze allelu 5G (OR = 2,26) genu PAI -1. Ponadto w analizowanej grupie pacjentów stwierdzono większą częstość kombinacji genotypów 677CT + 5G / 5G w porównaniu z grupą kontrolną. Wnioski: Uzyskane wyniki badań pozwalają na stwierdzenie, że ryzyko wystąpienia AIS u dzieci jest wyższe w przypadku obecności polimorficznych wariantów 677CT i 677TT dla genu MTHFR; z kolei skojarzenie wariantów polimorficznych 5G / 4G i 5G / 5G dla genu PAI-1 wiąże się ze zmniejszonym ryzykiem rozwoju AIS. Stwierdzono także występowanie bezpośredniej interakcji MTHFR z PAI-1, jednak o małej sile oddziaływania