The Association Study Of BRWD3Polymorphism With Mental Retardation Of Population In Qinba Mountain Region

Mental retardation, one of the most common symptoms of mental disorders, affects the life quality and health of patients. It contributes to an important reason for patients with life-long disability, and has long plagued the healthy development of society. With traditional genetic strategy, there have been identified400susceptibility genes related to MR. The number is still increasing. BRWD3, a candidate gene of MR, encodes a protein with8WD40domains and2bromodomains. The mutations in these loci have been identified to relate with XLMR. To understand the correlation between BRWD3nucleic acid polymorphism and MR in Qinba Mountain area,8SNP loci were genotyped and analyzed in378samples selected with case-control association analysis.The results showed that there was a positive relationship between nucleotide polymorphism of SNP loci rs12689192(A/C) and rs7049509(A/T) with MR by unit point analysis. Further haplotype analysis showed there was a significant difference in4haplotype blocks (Global P=0.00588021、Global P=0.000177345、Global P=0.0084852、Global P=0.00130286).As previously report, BRWD3may regulate genes’expression through JAK/STAT signaling pathway. Furthermore, bromodomain-containing proteins (BCPs) play a critical role in modulating genes’transcription and expression. BCPs are either chromatin modifying enzymes of the constitutions of chromatin remodeling complex. As the member of BCPs, BRWD3regulate massive genes expression, including the genes related to nerve and mental development, and the processes of learning and memory. Although it’s firstly reported that BRWD3gene is correlated to MR in Han population of Chinese from Qinba mountain area, further researches about pathogenesis related to BRWD3mutation is still required.