Iranian Journal of

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Background: Numerous studies have confirmed the association between type 1 diabetes mellitus (DM1) and polymorphisms of HLA genes on chromosome 6p21. Controlled DNA studies in Belgium recently have found a statistically significant association between DM1 and certain HLA class II genes, especially DRB1Lys71+.
Methods: 81 Danish families (each with at least 2 members with DM1) and 82 healthy controls were assessed for HLA polymorphisms. 54 of the 81 diabetic families were also assessed for polymorphisms at the HLA-B-DQB1, HLA-B-DQA1, and TNF-A and TNF-B loci. Affected sib-pair analysis was used to study correlation between DM1 and DRB1 alleles encoding Lys71+.
Results: Homozygous expression of DRB1Lys71+ carried a relative risk (RR) of 103.5 for DM1. There was a very strong correlation (p<1×10-6) between DM1 and DRB1 alleles encoding Lys71+. Family-based association studies showed that DRB1Lys71+ was the most important determinant of DM1 in carriers (haplotype relative risk = 8.38). Haplotype analysis confirmed this.
Conclusion: The DRB1Lys71+ allele confers genetic predisposition to DM1 most strongly of all.

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Background: Type 1 diabetes mellitus (T1DM) is an autoimmune disease in which T-cell mediated selective pancreatic β- cell destruction occurs. Half the risk of T1DM development is given by the HLA gene region while the remaining risk is assigned to non-HLA genes , probably those engaged in the formation of antigen interaction complex. The CD4 gene product, which is among the most prominent T-cell surface receptors with a key role in antigen processing, could be regarded as a strong candidate.
Methods: We investigated the possible association of the CD4 gene polymorphism with T1DM using the candidate gene approach. The pyrimidine- rich pentanucleotide repeat polymorphism residing in the promoter region of the CD4 gene was studied. In the present study 92 Iranian T1DM patients and 108 healthy matched control individuals were screened by PCR technique.
Results: The analysis of our results shows the protective association of CD4*A3 (RR= 0.159, 95% CI: 0.036-0.707 Pc=0.025) and the susceptible role of CD4*A5 (RR= 7.379, 95% CI: 1.630-33.414 Pc=0.010) with T1DM. Conclusion: Our results suggest that the certain CD4 alleles are associated either negatively or positively with T1DM in the Iranian population.

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Background: Searching for health information and gaining knowledge plays an important role in the management of chronic diseases such as diabetes. The aim of this study was to investigate the role of information resources in self-management of diabetes in diabetic patients referred to health centers in Jahrom.
Methods: This study is a descriptive-analytical study that was performed on 393 patients with diabetes in Jahrom city and covered villages in 2018. Data collection tools included a form of personal information, a questionnaire based on the role of information sources in improving the disease of patients with diabetes, and information was collected through it and the results were statistically analyzed by spss24 software.
Results: The highest age range of the participants in this study was 45 to 60 years old (40.7%) and 67.9% of the patient population were women. 68.1% of patients with diabetes had information about their disease after infection. Most of their sources of information included physicians, family and friends, and other patients and the mass media, respectively. The most important reasons for not obtaining information in 31.9% of other patients were difficulty and lack of access to information resources.
Conclusion: The overall result of this study indicated the relatively high and good health literacy of the subjects. Also, the population who did not have knowledge about their disease were very eager to learn that this problem can be solved as much as possible by properly distributing and presenting educational resources and equalizing educational opportunities and equalization in affluent and deprived areas. The results of this research as well as its overall result can be used to improve the health and education system of the country and help improve and enhance the distribution of educational resources through proper training of health personnel and more cooperation of relevant organizations.

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Background: Cystinosis is a rare lysosomal storage disorder with autosomal recessive inheritance caused by mutations in the CTNS gene, which leads to the accumulation of cystine crystals in lysosomes and gradual damage to various tissues and organs in the body. In this study, we investigated the variants in the CTNS gene of two cystinosis patients who were referred to Ali Asghar Children's Hospital. Additionally, we review previouse reports of pathogenic/likely pathogenic variants in the CTNS gene in Iran and some Middle Eastern countries, including Saudi Arabia, Turkey, and Egypt.
Methods: After collecting clinical and paraclinical data, sequencing of all exons of the CTNS gene along with its boundary regions was performed. To interpret the identified variants, bioinformatics tools based on the ACMG guideline were used.
Results: In the first patient, a novel variant c.1055A>G was found in the homozygous state, which, based on bioinformatics criteria, was classified as a "likely pathogenic" variant. In the second patient, a known homozygous of c.1015G>A was identified in the which has been previously reported as a pathogenic variant.
Conclusion: The results of this study introduce a new variant in the CTNS gene. Furthermore, by comparing reported variants in countries from the Middle East, including Iran, Saudi Arabia, Turkey, and Egypt, the c.681G>A variant was identified as the most common variant in Iran, Turkey, and Saudi Arabia, while the c.829dup variant was the most common in Egypt. The findings highlight the importance of genetic testing for definitive diagnosis and the need for targeted screening strategies in populations with high rates of consanguineous marriage.