伊朗人的 OX40L 多态性与 2 型糖尿病之间的关系。

IF 2.1 4区 医学 Q3 GENETICS & HEREDITY BMC Medical Genomics Pub Date : 2024-07-09 DOI:10.1186/s12920-024-01958-9
Abdolreza Sotoodeh Jahromi, Saiedeh Erfanian, Abazar Roustazadeh
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引用次数: 0

摘要

导言:糖尿病(DM)是全球发病和死亡的主要原因之一。它是一种多因素疾病,遗传和环境因素都会导致其发病。本研究旨在调查伊朗人 OX40L 启动子基因多态性与 2 型糖尿病(T2DM)的关系:我们的研究共招募了 368 名受试者,其中包括 184 名健康受试者和 184 名 T2DM 患者。聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)用于检测 rs3850641、rs1234313 和 rs10912580 的基因型和等位基因频率。此外,还利用 SNPStats 网络工具估算了单倍型频率和连锁不平衡(LD):结果:被测多态性的分布在 T2DM 患者和健康受试者之间存在统计学差异(P 0.05):我们的研究结果表明,OX40L 启动子基因多态性与 T2DM 有关。此外,基因型和等位基因变异与伊朗人罹患 T2DM 的风险降低有关。建议进一步研究这些多态性变异是否会影响 OX40/OX40L 相互作用或 OX40L 表型。
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Association between OX40L polymorphism and type 2 diabetes mellitus in Iranians.

Introduction: Diabetes mellitus (DM) is one of the leading causes of morbidity and mortality worldwide. It is a multifactorial disease that genetic and environmental factors contribute to its development. The aim of the study was to investigate the association of OX40L promoter gene polymorphisms with type 2 diabetes mellitus (T2DM) in Iranians.

Materials and methods: Three hundred and sixty-eight subjects including 184 healthy subjects and 184 T2DM patients were enrolled in our study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied to detect genotype and allele frequencies of rs3850641, rs1234313 and rs10912580. In addition, SNPStats web tool was applied to estimate haplotype frequency and linkage disequilibrium (LD).

Results: The distribution of tested polymorphisms was statistically different between the T2DM patients and healthy subjects (P < 0.01). rs1234313 AG (OR = 0.375, 95% CI = 0.193-0.727, P = 0.004) and rs10912580 AG (OR = 0.351, 95% CI = 0.162-0.758, P = 0.008) genotypes were associated with the decreased risk of T2DM in Iranians. Moreover, our prediction revealed that AAG (OR = 0.46, 95% CI= (0.28-0.76), P = 0.0028) and GAG (OR = 0.24, 95% CI= (0.13-0.45), P < 0.0001) haplotypes were related to the reduced risk of the disease. However, the tested polymorphisms had no effect on biochemical parameters and body mass index (BMI) in the patient group (P > 0.05).

Conclusion: Our findings revealed that OX40L promoter gene polymorphisms are associated with T2DM. Moreover, genotype and allelic variations were related to the decreased risk of T2DM in Iranians. Further studies are recommended to show whether these polymorphic variations could affect OX40/OX40L interaction or OX40L phenotype.

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来源期刊
BMC Medical Genomics
BMC Medical Genomics 医学-遗传学
CiteScore
3.90
自引率
0.00%
发文量
243
审稿时长
3.5 months
期刊介绍: BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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