Polymorphisms in promoter regions of IL-6 and IL-10 genes in breast cancer: a case-control study.

Polymorphisms in interleukin genes (IL-6 and IL-10) are involved in the pathogenesis of breast cancer. This study investigated polymorphisms in the promoter regions of IL-6 (-174G/C) and IL-10 (-1082G/A) through a case-control study employing 80 female subjects who were pathologically diagnosed with breast cancer. All patients received follow-up care at the Mansoura University Hospital, Mansoura, Egypt. We included another 80 females (controls) from the same population, showing no signs of malignancy. Clinicopathological features were examined in the patient groups, including the expression of estrogen and progesterone receptors, involvement of the lymph node, tumor morphology, and tumor grades. Genotyping of the promoter polymorphisms was performed using allele-specific polymerase chain reaction method. There was a significant decrease in the mean age of menarche in the patient group than that in the normal individuals. For the IL-6 -174G/C polymorphism, there was a significantly higher frequency of the CC genotype in the patients than that in the controls (odds ratio = 5.49). Furthermore, the CC genotype was significantly more prevalent among the patients who had lymph node involvement. For the IL-10 -1082G/A polymorphism, there was no difference in the distribution of genotypes among the patients and the control subjects. However, the tumor size was significantly larger in patients who were harboring the AA genotype than that in the patients who had AG or GG genotypes.

Distribution and clinal trends of the ABO and Rh genes in select Middle Eastern countries.

An understanding of the ABO and Rh blood group systems is important for blood transfusions and is also pertinent due to their potential association with certain morbidities and susceptibilities to infections. To investigate the diversity and differentiation of the ABO and Rh loci in Middle Eastern populations, data from twelve representative Middle Eastern populations were analyzed. Six populations were in conformity with Hardy-Weinberg equilibrium at the ABO locus. The pooled heterozygosity at both loci was calculated to be highest in the sample from Jordan and lowest in Bahrain. Heterogeneity was pronounced in the Northern compared to the Southern Middle Eastern populations. Overall, the absolute gene diversity was 0.0046 and gene differentiation was calculated to be 0.0100. Genetic diversity of the studied loci across all populations (HT) was estimated to be 0.4594, while the diversity within the populations (HS) was 0.4548. Nei's genetic distance analyses revealed highest affinities between the populations of Kuwait and Qatar, Oman and Yemen, and between Qatar and the United Arab Emirates. These results were displayed through a UGPMA dendrogram and principal component analyses, which established clustering of certain populations. Clinal trends of the allelic systems were observed by generating contour maps that allow a detailed appreciation of the distributions of alleles across the geography of the Arabian Peninsula and the Middle East. Taken together, these analyses are helpful in understanding the differentiation of blood group loci and for designing prospective studies for establishing the associations of these loci with health variables in the populations studied.

Heterogeneity and diversity of ABO and Rh blood group genes in select Saudi Arabian populations.

In order to investigate the diversity of ABO and Rh blood group genes in the Saudi Arabian population, we assembled the phenotypic data of approximately 66,000 subjects from ten representative Saudi populations: Al-Khobar, Riyadh, Tabuk/Madina Al-Munawaara, Jeddah, Abha, South region, Sakaka, Domah, Al-Qurayat, and Sweer. The frequencies of p[A], q[B], and r[O] alleles at the ABO locus were observed to be 0.1688, 0.1242, and 0.7070, respectively, and the frequency of the D allele at the Rh locus was 0.7138. The heterozygosities at the ABO and Rh loci were 0.4563 and 0.4086, respectively, while the combined heterozygosity was 0.4324. Homogeneity tests revealed the population of Abha to be the most heterogeneous while that of Tabuk/Madina was found to be the least heterogeneous. Homogeneity was higher among the Northern populations while Southern populations demonstrated subdivisions and stratification. Gene diversity analyses yielded a total heterozygosity value of 0.4449. The coefficient of gene differentiation was 0.0090. Nei's genetic distance analyses showed that there was close affinity between the populations of Al-Khobar and Riyadh. The largest differences were observed between the populations of Sakaka and Domah. Furthermore, negative correlations were found between p[A] and r[O] alleles, and between q[B] and r[O] alleles at the ABO locus. Clinal analyses revealed that the r[O] allele showed an increasing trend from North-East to South-West, and conversely the q[B] allele exhibited a decreasing trend at these coordinates. These analyses present interesting aspects of the blood group allele distribution across the geography of Saudi Arabia.

Correlation of SPECT imaging, biochemical parameters and mutation with systolic dysfunction.

We investigated systolic dysfunction by the use of biochemical laboratory tests and perfusion single-photon emission computed tomography imaging in 32 Pakistani subjects exhibiting symptoms of this disorder. To investigate underlying genetic causes, such as familial hypercholesterolemia, DNA samples from these subjects were screened by PCR-SSCP and DNA sequencing to detect changes in the low density lipoprotein receptor gene (LDLR). A novel mutation (1171G>A) in exon 8 and two polymorphisms (1167G>A and 1413 A>G) in exons 8 and 10 of the LDLR gene were found. In silico tools such as SIFT, PolyPhen-2, KD4v, and Project HOPE were used to predict the effect of this mutation on protein structure and function.

Relationship between NRAMP1 gene polymorphism and efficacy of BCG vaccine in a helminth-infected population.

Infection of mothers with schistosomiasis and filariasis has been shown to influence infant responses to neonatal Bacille Calmette-Guérin (BCG) immunization. The genetic makeup of infants is also considered an important determinant for the activity of BCG vaccine. The effect of natural resistance-associated macrophage protein 1 (NRAMP1) gene polymorphism on the efficacy of BCG vaccine was examined in neonates with helminth-infected mothers (63 infants) and the results were compared with neonates of uninfected mothers (187 infants). After BCG vaccination, assessment of scar presence, tuberculin test, stool analysis, and IgE level was performed. Polymorphism of the NRAMP1 gene was investigated by PCR amplification followed by RFLP analysis. We found that patients with heterozygosity of intron 4 (GC) and/or maternal infection with helminth parasites showed reduced efficacy of BCG vaccine against tuberculosis.

Role of fine-needle aspiration in the clinical management of solid organ transplant recipients: a review.

BACKGROUND: We evaluated the clinical course of the solid-organ transplant population at our institutions to determine the role of fine-needle aspiration (FNA) in the clinical management of this subgroup of patients. METHODS: 1196 allograft recipients (522 liver, 288 cardiac, 250 renal, 131 lung, 5 heart and lung) were reviewed. A total of 62 (5.2%) (32 liver, 23 heart, 6 lung, and 1 renal) transplant patients underwent an FNA procedure. Thirty-seven males and 25 females were included, ranging in age from 18 to 71 years (mean 50 years). RESULTS: Of the 62 fine-needle aspirates, 29 (47%) were neoplastic. The most common malignancies aspirated were malignant solid tumors (15 cases)-including 8 epithelial malignancies, 5 hepatocellular carcinomas, and 2 mesenchymal neoplasms-followed by posttransplant lymphoproliferative disorders (14 cases). Thirteen (21%) aspirates were inflammatory. The remaining 20 (32%) cases were benign aspirates from various sites (9 liver, 3 breast, 2 thyroid, 2 soft tissue, 2 lung, and 2 vertebral body). Surgical and/or autopsy material was available in 34 cases (55%). There was agreement between the tissue diagnosis and FNA material in 33 cases (97%). One case (3%) was a false negative. No false-positive cases were recorded. CONCLUSIONS: This study showed that over 50% of the aspirates were benign, justifying a conservative approach in the clinical management of these patients. Histologic correlation was available in 54% of the cases with an overall specificity of 100% and a sensitivity of 97%. We conclude that FNA is a highly sensitive and specific technique in the evaluation of lesions occurring in posttransplant patients. Cancer (Cancer Cytopathol)