Naslov
GWAS of smell recognition identifies rare variants underlying numerous cell processes

Autori
Relja, Ajka ; Gelemanović, Andrea ; Miljković, Ana ; Hayward, Caroline ; Polašek, Ozren ; Kolčić, Ivana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Skup
European Human Genetics Conference 2017

Mjesto i datum
Kopenhagen, Danska, 27.05.2017. - 30.05.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Smell ; olfaction ; GWAS

Sažetak
Aim: Olfaction plays an important role in daily functioning, influencing dietary habits, safety, emotions and overall well-being, while its’ impairment was implicated in several neurological diseases. The aim of this study was to investigate the genetic background of smell recognition. Materials and methods: 1, 966 subjects from two settlements from the Island of Korcula, Croatia, within 10, 001 Dalmatians cohort, were involved in the smell recognition measurement using Sniffin' Sticks with 12 scented probes. Subjects were given four options to choose from for each of the scent, resulting in the percent of correct responses, which were used in the HRC imputed GWAS, controlling for the effects of age, gender, smoking and kinship. Lastly, a fixed effect meta-analysis was performed, reflecting separate genetic structures of the two sub- sets. Bonferroni corrected threshold of 2.5E-9 was applied. Results: Smell recognition was strongly associated with 14 rare intron variants (MAF≤1.3%) involved in various cell functions, differentiation, structure and chemical sensation. The most significant SNP was rs181890080 (p=2.14E-11, within STK33 gene) associated with sweet taste signaling. There were additional 39 SNPs under the significance threshold (p<8.8E-8), and the most relevant gene was NTN4 responsible for neurite elongation from olfactory bulb explants. Conclusion: This study confirms the great complexity of the genetic basis of smell recognition, having identified genes from chemical sensation, but also various other cell functions that were not previously implied for this trait. Further refinement of these results in increased sample sizes is under way. Funding: Medical Research Council UK, Croatian Science Foundation grant 8875.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita

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