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1.
Monaldi Arch Chest Dis ; 92(3)2021 Dec 28.
Article in English | MEDLINE | ID: mdl-34964571

ABSTRACT

Asthma is a chronic and multifactorial disease which is known to result from environmental and genetic factors. Interleukin 1 receptor-like 1 (IL1RL1) is a receptor, which promotes inflammatory responses after binding to its ligand IL-33. Several studies have shown that IL1RL1 gene polymorphisms are related to susceptibility or protection to asthma. The objective of this study was to evaluate the association between two IL1RL1 single nucleotide polymorphisms (rs10208293 and rs1041973) and the risk of asthma in the Iranian population. We performed genotyping of the IL1RL1 SNPs in 126 adult asthmatics and 300 healthy controls using TaqMan genotyping assay. Moreover, total serum IgE level, eosinophil count, and skin prick test were accomplished. The results indicated that the AA genotype of rs10208293 was positively associated with asthma susceptibility (p=0.028). We did not find any association between rs1041973 and asthma. Overall, our findings indicate that rs10208293 has a positive association with asthma in the Iranian population.


Subject(s)
Asthma , Interleukin-1 Receptor-Like 1 Protein/genetics , Polymorphism, Single Nucleotide , Adult , Asthma/epidemiology , Asthma/genetics , Genetic Predisposition to Disease , Humans , Iran/epidemiology , Leukocyte Count
2.
Arch Iran Med ; 16(10): 573-5, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24093136

ABSTRACT

OBJECTIVE: Prenatal diagnosis of ß-thalassemia carrier couples has helped to prevent bearing affected children. Among 177 couples referred to our laboratory for prenatal diagnosis, 14 mothers had twin pregnancies.  METHODS: By using direct and indirect methods, we determined their mutations and linkage analysis using polymorphic markers (restriction fragment length polymorphism [RFLP]).  RESULTS:  It was shown that in five families both fetuses were heterozygote carriers. In another five families, one fetus was normal and the other one was carrier. In two families, one fetus was affected and the other one was heterozygous carrier; in one case one fetus was affected and the other one was homozygote normal. In the last family both fetuses were homozygote normal. If all fetuses were fraternal then one would expect to see seven homozygote normal and the same number affected, and 14 carriers. CONCLUSION: Our results indicated that at least in cases where both fetuses had identical genotypes, then they may be identical twins. Molecular testing indeed showed that in three cases the twins were identical. Another point is that in three cases, one of the twin fetuses was affected and the other one was either normal or heterozygote in which only the affected fetuses were aborted by the specialist.


Subject(s)
Prenatal Diagnosis/methods , beta-Thalassemia/diagnosis , Female , Humans , Male , Polymorphism, Restriction Fragment Length , Pregnancy
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