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FAM241A – Type 2 Diabetes Mellitus

Recent multi‑patient studies have evaluated FAM241A as one of several candidate genes for type 2 diabetes mellitus. In a Norwegian population‐based cohort involving 1,638 probands (PMID:18437351), FAM241A was included among the loci tested, although significant associations were robustly observed only for several other genes. Similarly, in an African American case‑control study of 993 cases (PMID:18443202) and an analysis in Indian sib‑pairs (PMID:23349771), the data for FAM241A showed inconsistent replication and minimal segregation with affected relatives, contributing to an overall genetic evidence rating that remains limited.

Functional assessments of the protein family that includes FAM241A have been performed in parallel. In a study examining protein family FAM241 in human and mouse (PMID:39715844), although the homologous gene FAM241B was directly interrogated, experimental knockout models did not show a clear phenocopy of diabetes‐related features. The lack of demonstrable deleterious functional impact, together with the modest and inconsistent genetic association data, underscores the limited clinical utility of FAM241A for diagnostic decision‑making at this time. Key take‑home: While FAM241A remains a candidate locus within polygenic models of type 2 diabetes, its current evidence base does not support its routine use in clinical or commercial settings.

References

  • Diabetologia • 2008 • Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population‑based cohort PMID:18437351
  • Diabetes • 2008 • Association analysis in African Americans of European‑derived type 2 diabetes single nucleotide polymorphisms from whole‑genome association studies PMID:18443202
  • PloS one • 2013 • Association study of 25 type 2 diabetes related Loci with measures of obesity in Indian sib pairs PMID:23349771
  • Mammalian genome • 2025 • Protein family FAM241 in human and mouse PMID:39715844

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

The association is based on multi‑population studies with modest effect sizes and inconsistent replication (e.g., 1,638 probands in a Norwegian cohort (PMID:18437351), 993 African American cases (PMID:18443202), and Indian sib‑pairs (PMID:23349771)).

Genetic Evidence

Limited

While FAM241A is included among several candidate loci, there is a scarcity of clearly pathogenic coding variants and segregation data, reducing the strength of the genetic evidence.

Functional Evidence

Limited

Functional studies in a related gene family (including FAM241B) failed to recapitulate a diabetes phenotype in knockout models, and no direct functional assays for FAM241A have demonstrated a pathogenic effect.