CONTEXT The detailed role of FSH in contributing to male testicular function and fertility has been debated. We have previously identified the association between the T-allele of the FSHB promoter polymorphism (rs10835638; G/T, -211 bp from the mRNA start) and significantly reduced male serum FSH. OBJECTIVE In the current study, the T-allele carriers of the FSHB -211 G/T single nucleotide pol...

Cytokine secretion profiles of activated T cells are critical for maintaining the immunologic balance between protection and tolerance. In mice, several cytokines have been reported to exhibit monoallelic expression. Previously, we found that the human interleukin-1 alpha (IL1A) gene exhibits a stable allele-specific expression pattern in CD4+ T-cell clones. We investigated whether DNA methylat...

Five independent studies have reported associations between serotonin transporter gene (5-HTT) polymorphisms and attention deficit hyperactivity disorder (ADHD). Four studies found evidence for association between the long-allele of a 44-base pair insertion/deletion polymorphism (5-HTTLPR), one of the studies found association to a variable number tandem repeat within intron 2, another to the T...

Abstract Background Ovarian cancer (OC) is the leading cause of death associated with gynecologic cancer. IL-10 plays an important role in tumorigenesis. We investigated gene polymorphisms OC patients. The current case–control study screened forty-eight women and healthy who did not have OC. genotyping SNPs (− 1082 G > A; rs1800896 − 819 C T; rs1800871) was done by tetra primers sequence-spe...

urokinase might play a role in the formation of kidney stones. this study was done to determine the association between +4065 t/c polymorphism at the 3′-untranslated region of urokinase gene and calcium kidney stones. this case-control study was carried out on 70 cases with a history of calcium kidney stones and 70 controls from the baqiyatallah hospital of tehran in 2013. the study of polymorp...

In this study, we examined the frequency of polymorphisms in the interleukin (IL) genes IL-1β-511 and IL-6-174 in patients with epilepsy as well as a control group in Kars, Turkey. A total of 100 patients diagnosed with epilepsy and 100 nonepileptic subjects as a control group were examined. Peripheral blood samples were acquired from patients and control subjects for DNA extraction. The target...

Osteogenesis imperfecta (OI) is generally caused by a dominant mutation in Collagen I, encoded by the genes COL1A1 and COL1A2. To date there is no satisfactory therapy for OI, but inactivation of the mutant allele through small interfering RNAs (siRNA) is a promising approach, as siRNAs targeting each allele of a polymorphism could be used for allele-specific silencing irrespective of the locat...

BACKGROUND Genome-wide association studies (GWASs) of asthma have consistently implicated the ORM1-like 3 and gasdermin B (ORMDL3-GSDMB), IL33, IL-1 receptor-like 1 and IL-18 receptor 1 (IL1RL1-IL18R1), RAD50-IL13, thymic stromal lymphopoietin and WD repeat domain 36 region (TSLP-WDR36), and HLA-DR/DQ regions. OBJECTIVE A GWAS of asthma was performed in a non-Hispanic white population. METH...

BACKGROUND Numerous studies have evaluated the association between NQO1 609C>T polymorphism and gastrointestinal (GI) cancer. However, the results remain inconclusive. To obtain a more precise estimation of the relation, we conducted an analysis of all available case-control studies. METHODS Eligible studies were identified by searching the databases and finally 19 articles were included in t...

BACKGROUND The immunoglobulin-like glycoprotein CD226 (DNAX accessory molecule-1) represents receptor-activating cytotoxic T lymphocyte and natural killer cells taking part in tumor surveillance, the pathogenesis of inflammation, and autoimmune disorders. The aim of the present study is to analyze the association between polymorphisms rs763361 and rs727088 in the CD226 gene and their impact on ...