| ObjectiveThe study collected serum and clinical information of IBS-D patients with liver stagnation and spleen deficiency syndeome,performed full-exome sequencing through genome-wide exon high-throughput sequencing technology and multi-step comparison filtering through bioinformatics analysis technology,in order to screen out the susceptibility genes related to brain-intestinal neurotransmitters of patients with IBS-D liver depression and spleen deficiency syndrome,to lay the foundation for further research on gene polymorphisms,at the same time,screening out the polymorphic genes related to brain-intestinal neurotransmitters by gene annotation,and analysing the association of polymorphism genes with the symptoms of the liver stagnation and spleen deficiency syndeome of IBS-D patients.MethodsThe liver stagnation and spleen deficiency syndeome of IBS-D patients were included in the study,collecting their clinical data,taking their venous blood to extract peripheral DNA for genome-wide exon high-throughput sequencing.The results were compared with human reference genome hgl9,using the gene annotation software(ANNOVAR)to annotate the results,screening genes related to neurotransmitters,further screening SNPs reference 1000 Genomes Project andExAC database,integrating non-synonymous variant genes in the exonic region to analyze the patient's susceptibility Genes,while exploring the association of non-consensus gene polymorphisms with the symptoms of the disease.Results1.Basic situation:A total of 10 patients with the liver stagnation and spleen deficiency syndeome of IBS-D were include in the study,including 5 males and 5 females.The average age was 29±9.888 years,the average disease duration was 49.5±71.320 months,and the average BMI value was 20.72±2.84.2.Repeatedly comparing the sequencing results showed that there were 5507 genes related to neurotransmitters,5117 genes consistent with SNPs,94 non-synonymous variants were located in the exon region,and 18 genes of them are common,76 genes of them are not common after integration.rsl2437941-UNC13C,rs2402073-TC2N,rs8187730-SLC18A3,rs1390938-SLC18A1,rs631357-KIF17,rs4838544-KIF17,rs7202563-BAIAP3,rs1132356-BAIAP3,rs17099370-S YT16,rs8019076-SYT16,rs61821060-PPFIA4,rs902790-GPR156,rs564271-SYT8,rs822522-SYT11,rs4665855-OTOF,rs6264-DDC,rs2278973-CACNA1B,rs10791893-OR5T2were the 18 shared genes?3.Analysising the correlation of non-synonymous variant non-consensus gene polymorphism with the disease and syndrome Characteristics of the liver stagnation and spleen deficiency syndeome of IBS-D:76 non-shared polymorphisms were compared with disease course,BMI,defecation symptoms,IBS-The correlation analysis of SSS scores,IBS-QOL total scores,dimension scores,HAMA scores,and HAMD scores,the results were as follows:(1)Correlation analysis with disease course:the genes linearly related to the disease course were rs1800762,rs1800762,rs75257288,rs55788818,rs35592366,rs7114672,rs2240229,and rs4808383,all of which were negatively correlated with disease duration.(2)Correlation analysis with BMI:the genes linearly related to BMI were rs1801474,rs9690195,rs17150243,rs2296225,and rs2296225,the rs2296225,rs1801474,rs9690195,rs17150243 were positively correlated with BMI,and rs6704505 was negatively correlated with BMI.(3)Correlation analysis with defecation symptoms:the genes linearly related to defecation frequency were rs10985765 and rs17099370,rs10985765 was positively correlated with the number of defecation,rs17099370 was negatively correlated with the number of defecation;the genes linearly related to stool trait were rs56218866 and rs6704505,all of which were positively correlated with stool trait;the genes linearly related with mucus were rs6704505,rs3811448,rs2236358 Rs12224646,rs11018879,rs4859571,rs143100530,rs2240229,rs4808383,rs7937317,rs6590021 and rs6590022,the rs2236358 were positively correlated with mucus,the rest genes were negatively correlated with mucus;the genes linearly related to the urgency of defecation were rs2270927,rs754224,rs3744215,rs4859571,rs34662058 and rs3919907,the rs3744215 and rs34662058 were positively correlated with the urgency of defecation,the rs2270927,rs754224,rs4859571,rs3919907 were negatively correlated with the urgency of defecation;the genes linearly related to the inexhaustible defecation were rs4073918 and rs4073918,the rs4073918 were positively correlated with inexhaustible defecation,the rs6704505 were negatively correlated with inexhaustible defecation;there is no linearly related gene to abdominal pain.(4)Correlation analysis with IBS-SSS scores and IBS-QOL total scores:The gene linearly related to IBS-SSS score was rs3744215,what is positively correlated with IBS-SSS scores;the genes linearly related to IBS-QOL total scores were rs3741231,rs2285906,and rs3749952,what were positively correlated with IBS-QOL total scores.(5)Correlative analysis with IBS-QOL scale:rs9690195 and rs3919907 were linearly correlated with behavioral disorders,and all were positively correlated with behavioral disorders;the genes linearly related to autologous imagery were rs183698487,rs6704505,rs141909159,rs17854256,rs10230714,rs537916,rs1468542,rs2285906,rs112305062,rs2240227,rs2240229,rs4808383,and rs3919907,the rs1468542,rs2285906,rs2240227,rs2240229,rs4808383 were positively correlated with autologous imagery,the rs183698487,rs6704505,rs141909159,rs17854256,rs10230714,rs537916,rs112305062,rs3919907 were negatively correlated with autologous imagery;the genes linearly related to health concerns were rs141909159?rs61732315?rs3741231?rs2285906?rs112305062?rs2240227 and rs3919907,the rsl83698487,rs141909159,rs61732315,rs112305062 were positively correlated with health concerns,the rs3741231,rs2285906,rs2240227,rs3919907 were negatively correlated with health concerns;the genes linearly related to the eating escape were rs7792976,rs2236358,rs35537868,rs13031859,rs10034 345,rs11040249,rs2240229 and rs4808383,the rs35537868,rs2240229,rs4808383 were positively associated with eating escape,the rs7792976,rs2236358,rs13031859,rs10034345,rs11040249 were negatively correlated with eating escape;the genes linearly related to social function were rs754224,rs2240229 and rs4808383,all of which were negatively related to social function.The genes linearly related to sexual behavior were rs28575545,rs6704505,rs189425146 and rs35537868,the rs6704505 was positively correlated with sexual behavior,and the rs28575545,rs189425146,rs35537868 were negatively correlated with sexual behavior;the genes linearly related to relationship development were rs75257288,rs2236358,rs2114084,rs7114672,the rs2114084 was positively associated with relationship development,the rs75257288,rs2236358 and rs7114672 were negatively correlated with the relationship expansion;there is no linearly related gene to bad mood.(6)Correlation analysis with HAMA and HAMD scores:the genes linearly related to HAMA scores were rs17099370,rs7049042,rs1403811 and rs7847413,all of which were positively correlated with HAMA scores;the genes linearly correlated with HAMD scores were rs7792976,rs10230714,rs3741231,rs10034345and rs11040249,the rs3741231 was positively correlated with HAMD scores,the rs7792976,rs10230714,rs10034345 and rs11040249 were negatively correlated with HAMD scores.(7)There were no definite correlations between the 22 genes and the the symptoms of the liver stagnation and spleen deficiency syndeome of IBS-D:rs76762496,rsl7731958,rsl3233513,rs77758448,rs854524,rs2240026,rs6923492,rs62000403,rs484955,rs1176744,rs12986002,rs2240154,rs55646937,rs6263,rs118160201,Rs59666014,rs7873074,rs7030820,rs1966357,rs2240228,rs75716864,rs8040712.Conclusion1.The 18 genes:rsl2437941-UNC13C,rs2402073-TC2N,rs8187730-SLC18A3,rs1390938-SLC18A1,rs631357-KIF17,rs4838544-KIF17,rs7202563-BAIAP3,rs1132356-BAIAP3,rs17099370-SYT16,rs8019076-SYT16,rs61821060-PPFIA4,rs902790-GPR 156,rs564271-SYT8,rs822522-SYT11,rs4665855-OTOF,rs6264-DDC,rs2278973-CACN A1B,rs10791893-OR5T2 may be the susceptibility genes related to brain-intestinal neurotransmitter of the liver stagnation and spleen deficiency syndeome of IBS-D.2.54 polymorphism genes related to neurotransmitters in the exon region of the liver stagnation and spleen deficiency syndeome of IBS-D patients are related to the characteristics of IBS-D disease and the syndrome characteristics of liver stagnation and spleen deficiency,possibly related to the pathogenesis and disease progression of the liver stagnation and spleen deficiency syndeome of IBS-D. |
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