ADAM30 and Type 2 Diabetes Mellitus

Multiple independent studies have demonstrated that variants in ADAM30 (HGNC:208) are significantly associated with type 2 diabetes mellitus (MONDO_0005148). In an investigation of 3,089 Indian sib pairs, the ADAM30 variant rs2641348 was shown to significantly predict fasting insulin levels and related quantitative traits such as HOMA-insulin resistance and HOMA-beta cell function (PMID:22052079), providing robust genetic evidence for its involvement in glycemic regulation. This study, along with additional work performed in diverse populations such as the Lebanese cohort (PMID:24145053), supports a consistent association across different ethnic groups.

The genetic evidence is reinforced by a study that examined the expression profiles of fourteen type 2 diabetes-associated genes in metabolically relevant tissues of mice. In this functional assessment, ADAM30 was among the genes that showed differential regulation in response to nutritional status and glucose concentrations, thereby suggesting a role in the metabolic pathways underlying type 2 diabetes (PMID:23442068). Although direct mechanistic assays specifically targeting ADAM30 remain limited, the concordant expression data provide important supporting evidence for its pathogenic role.

Despite the polygenic and multifactorial nature of type 2 diabetes, ADAM30 consistently appears as a significant contributor in multiple association studies with adequate sample sizes and replication across studies. There is no reported conflicting evidence in the assays presented, and the cumulative data substantiate a strong genetic effect with moderate functional validation.

In summary, the converging genetic and experimental data indicate that ADAM30 is strongly implicated in type 2 diabetes mellitus. This evidence supports its clinical utility in diagnostic decision‑making and may pave the way for future commercial and publication‐worthy applications.

Key Take‑home sentence: ADAM30 is a robust genetic contributor to type 2 diabetes mellitus, with replicated associations and supportive tissue‐based expression evidence underpinning its clinical relevance.

References

• Diabetologia • 2012 • Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs PMID:22052079
• BMC Genetics • 2013 • Diabetes genes identified by genome‑wide association studies are regulated in mice by nutritional factors in metabolically relevant tissues and by glucose concentrations in islets PMID:23442068
• Diabetes Research and Clinical Practice • 2013 • A replication study of 19 GWAS‑validated type 2 diabetes at‑risk variants in the Lebanese population PMID:24145053

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