rs1052618 - NCK1-DT, SLC35G2
Magnitude 2.2 · 1 study on file
Reported associations
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure underpinning obesity - Unknown journal (n.d.) · Unknown authors · PubMed 29273807
ABSTRACT: Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, non-coding variants from which pinpointing causal genes remains challenging. Here, we combined data from 718,734 individuals to discover rare and low-frequency (MAF<5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which eight in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2, ZNF169) newly implicated in human obesity, two (MC4R, KSR2) previously observed in extreme obesity, and two variants in GIPR. Effect sizes of rare variants are ~10 times larger than of common variants, with the largest effect observed in carriers of an MC4R stop-codon (p.Tyr
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Exercise
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Regular aerobic and resistance exercise Moderate
rs1052618 associates with elevated BMI; structured exercise supports metabolic health and weight regulation.
150 minutes moderate-intensity aerobic activity plus 2+ resistance training sessions weekly
Screening
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Regular metabolic health assessment Moderate
Carriers of the BMI-associated rs1052618 variant benefit from proactive metabolic monitoring for early detection of dysglycemia or dyslipidemia.
Annual metabolic panel, lipid profile, blood pressure and weight measurements