Amirul Kabir, Md. Abdullah Al Mamun Khan, K.M. Kaderi Kibria
{"title":"The impact of IL-6R gene polymorphism (rs8192284) on type 2 diabetes mellitus and other metabolic disorders in the Bangladeshi population","authors":"Amirul Kabir, Md. Abdullah Al Mamun Khan, K.M. Kaderi Kibria","doi":"10.1016/j.humgen.2026.201536","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>Type 2 diabetes mellitus (T2DM) is a multifactorial, polygenic metabolic disorder. This study aimed to investigate the prevalence of the Asp358Ala polymorphism in the IL-6R gene (rs8192284) in the Bangladeshi population and its association with specific metabolic syndromes.</div></div><div><h3>Method</h3><div>A total of 359 subjects (178 patients with type 2 diabetes and 181 non-diabetic controls) were enrolled from various healthcare centers in Bangladesh. Lifestyle factors and anthropometric data were gathered from study subjects using a standard questionnaire. Blood samples were collected for DNA extraction, and allele-specific PCR was performed for genotyping the SNP in the IL-6R gene. Accurate genotyping results were ensured by optimizing primer design and PCR conditions and validating them using DNA sequencing. The association between these data was analyzed using SPSS.</div></div><div><h3>Result</h3><div>IL6R polymorphisms showed no overall significant relationship with type 2 diabetes (<em>P</em> = 0.102); however, after analyzing according to the inheritance model, the dominant model was found to be significantly related to diabetes (<em>P</em> = 0.043). This suggests that the homozygous wild-type allele is more prone to diabetes, whereas the mutation appears to be associated with a reduced risk. Diabetic patients were also susceptible to pre-high and high blood pressure (<em>P</em> = 0.03). The assessment of SNP with a dominant model reveals an association between the A/A genotype and hypertension (<em>P</em> = 0.043). Analysis of variance revealed that diastolic blood pressure levels were elevated primarily in the A/A genotype (<em>P</em> = 0.019).</div></div><div><h3>Conclusion</h3><div>The study suggests that the IL6R polymorphism is associated with a reduced risk of diabetes. Additionally, the A/A genotype is responsible for hypertension, particularly diastolic blood pressure.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"47 ","pages":"Article 201536"},"PeriodicalIF":0.7000,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2773044126000082","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2026/2/2 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background
Type 2 diabetes mellitus (T2DM) is a multifactorial, polygenic metabolic disorder. This study aimed to investigate the prevalence of the Asp358Ala polymorphism in the IL-6R gene (rs8192284) in the Bangladeshi population and its association with specific metabolic syndromes.
Method
A total of 359 subjects (178 patients with type 2 diabetes and 181 non-diabetic controls) were enrolled from various healthcare centers in Bangladesh. Lifestyle factors and anthropometric data were gathered from study subjects using a standard questionnaire. Blood samples were collected for DNA extraction, and allele-specific PCR was performed for genotyping the SNP in the IL-6R gene. Accurate genotyping results were ensured by optimizing primer design and PCR conditions and validating them using DNA sequencing. The association between these data was analyzed using SPSS.
Result
IL6R polymorphisms showed no overall significant relationship with type 2 diabetes (P = 0.102); however, after analyzing according to the inheritance model, the dominant model was found to be significantly related to diabetes (P = 0.043). This suggests that the homozygous wild-type allele is more prone to diabetes, whereas the mutation appears to be associated with a reduced risk. Diabetic patients were also susceptible to pre-high and high blood pressure (P = 0.03). The assessment of SNP with a dominant model reveals an association between the A/A genotype and hypertension (P = 0.043). Analysis of variance revealed that diastolic blood pressure levels were elevated primarily in the A/A genotype (P = 0.019).
Conclusion
The study suggests that the IL6R polymorphism is associated with a reduced risk of diabetes. Additionally, the A/A genotype is responsible for hypertension, particularly diastolic blood pressure.