rs114252547 (DGKD): Male Obesity Genetics

Key takeaways

• rs114252547 was the only one of five reported variants tied specifically to obesity, not merely overweight, in a male-only genetic study.
• The variant sits in or near the DGKD gene (diacylglycerol kinase delta), a protein grouped among those involved in energy metabolism and homeostasis.
• Evidence comes from a single study of only 290 men recruited through a fertility clinic and has not been independently replicated; the finding is preliminary.
• The male-only study design means no data on this variant's effects in women are available.
• No effect size such as an odds ratio was reported, so the magnitude of any association is unknown.

What the research says A genome-wide association study (GWAS) of 290 Caucasian males in Greece, divided among 104 normal-weight controls, 125 overweight participants, and 61 obese participants, identified rs114252547 as the one SNP among five that was specifically associated with obesity rather than overweight (Kyrgiafini et al., Genes, 2023). The variant maps to the DGKD gene (diacylglycerol kinase delta), which the authors place among genes regulating energy metabolism and homeostasis. Functional annotation performed in silico (using computational tools rather than laboratory experiments) suggested that some of the five identified variants may act as expression quantitative trait loci (eQTLs) - meaning they may influence how much protein a nearby gene produces - though tissue-specific eQTL data for rs114252547 individually were not detailed in the available study text.

Reported associations

• Obesity in males: rs114252547 was associated with obesity in a male-only GWAS of 290 Greek Caucasian men (104 controls, 61 obese); no odds ratio or confidence interval was reported in the available study text (Kyrgiafini et al., Genes, 2023).

Evidence quality The evidence for rs114252547 is weak and should be treated as hypothesis-generating. The sole published study (Kyrgiafini et al., Genes, 2023) recruited 290 Caucasian males through a Greek fertility clinic, a setting that may introduce selection bias not representative of the general male population. The authors explicitly framed the work as a preliminary investigation aimed at generating references for future research, not a confirmatory study. No independent replication cohort was used, no effect sizes were reported in the available text, and a total n of 290 falls far below the tens of thousands typically required for robust GWAS replication. The sex-stratified design - motivated by documented sexual dimorphism in body composition and fat distribution - is methodologically sound but means results cannot be extended to women. No conflicting studies were identified in the provided sources; the absence of replication is itself a significant limitation.

Lifestyle considerations No lifestyle considerations on file for this variant.