Prokopenko · Nature genetics 2009 · meta-analysis of genome-wide association scans and case-control studies · n=119,299

Variants in MTNR1B influence fasting glucose levels.

Cited 754 times in the scientific literature.

Level 3 - non-randomized controlled study

Meta-analysis of cross-sectional genome-wide association cohorts and case-control studies (graded by design analogy)

PubMed 19060907 · doi:10.1038/ng.290 · record verified 2026-08-30

What was done

Examined the leading association signals across ten genome-wide association scans for fasting glucose concentrations in 36,610 individuals of European descent, followed by a meta-analysis of type 2 diabetes risk across 13 case-control studies comprising 18,236 cases and 64,453 controls.

What was found

Variants in MTNR1B were consistently associated with fasting glucose across all ten scans. The rs10830963 G allele (frequency 0.30 in HapMap CEU) was associated with an increase of 0.07 mmol/l (95% CI = 0.06-0.08) in fasting glucose (P = 3.2 x 10^-50) and reduced beta-cell function by HOMA-B (P = 1.1 x 10^-15). The allele increased type 2 diabetes risk with an odds ratio of 1.09 (95% CI = 1.05-1.12, P = 3.3 x 10^-7). Fasting glucose associations were also confirmed for G6PC2 rs560887 (P = 1.1 x 10^-57) and GCK rs4607517 (P = 1.0 x 10^-25).

Why it matters

Establishes MTNR1B as a key genetic regulator of fasting glucose and beta-cell function, linking melatonin receptor biology to the pathogenesis of type 2 diabetes.

Limits

The analysis was limited entirely to individuals of European descent. The individual effect size per risk allele on glucose and diabetes risk is small, and downstream molecular mechanisms were not detailed in the abstract.

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