GPM6A Variant (4:175633071A>G) Association with Depression and Claustrophobia-like Disorders in Pakistani Population

Abstract Neuropsychiatric disorders are getting special consideration in all populations around the globe due to its frightening occurrence in the current era of socio-economic competitiveness. General phobias are one of its major categories, particularly, claustrophobia which is the fear of confined places with varied intensities among people of different origins. In general, depression is a serious mental illness that affects how you feel, think, and respond to certain improvised intense situations. GPM6A-deficient mice foster neuropsychiatric abnormalities which are provoked by stress-induced environments that ultimately translate into depression and claustrophobia-like behavioral responses. The current study reported GPM6Avariant 4:175633071A>G association with depression and claustrophobia-like disorders within the Pakistani population. This gene is stimulated by stress in humans, located on 4q32-q34 that encodes a protein called glycoprotein M6A which ultimately aids in synapse formation in the human brain. The subject mRNA variant r.2778T>C transcript ID: NM_005277.5 (rs17061735A>G) located on the 8thexon genotyped here, and a total of 53 samples were screened (cases=28, controls=25). This pilot study revealed that 21 & 7 individuals were homozygous wild-type and heterozygous respectively among the case-cohort, while all samples were found homozygous wild-type in the control-cohort. Alternative allele frequency among the cases & controls was 0.125 & zero respectively with χ2 association p-value of 9.68×10-3. Furthermore, the subject variant may be genotyped with a large sample size for more robust statistical significance, alternatively, whole-genome association studies (GWAS) may be designed to have a better insight of this complex disorder in the socio-economically suppressed societies across the world.