Effects of single nucleotide polymorphism of MTERFD3 gene on mood disorders

• Main Authors: HUNG CHU CHI, 洪筑琪
• Other Authors: Wen-Teng Chang
• Format: Others
• Language: zh-TW
• Published: 2013
• Online Access: http://ndltd.ncl.edu.tw/handle/02922980087407162303

碩士 === 中華醫事科技大學 === 生物醫學研究所 === 101 === Abstract Backgrounds: Affective disorders, mainly depressive (MDD) and bipolar disorders (BPD, including BP I and BP II), are common in the general population. However, little is known between genes and their clinical features. The aim of this study is to correlate SNP rs2287161 of MTERFD3 gene with clinical features. Materials and Methods: There were 1242 participants in this study, including 464 probands, 522 relatives and 256 controls from six clinics, regional hospitals or medical centers in the southern and northern Taiwan from 2008 to 2012. Participants were interviewed by well-trained interviewers using Composite International Diagnostic Interview (CIDI) to collect data on demographic and clinical features. The data were collected from patients with depression or bipolar disorder, their families and other normal people. We also cloned the promoters with different SNPs of MTERFD3 gene to study the correlation of SNPs and clinical features. The promoter activities were measured by Dual luciferase assay system and in a luminometer. Results: The Pittburgh Sleep Quality Index was used to assess the sleep situation of subjects in the past month. There were significant differences among probands, relatives and controls. The items are quality (p<0.001), latency (p<0.001), efficiency (p<0.001), disturbances (p<0.001), use of medications (p<0.001) and day-life dysfunction (p<0.001). However, there was no significant difference in sleep duration (p=0.274). To study the interaction of diagnoses (BPI and II) and the SNP rs2287161 of MTERFD3 in PSQI, we didvided the all cases into three genotype groups (CC, CG and GG) or two groups (CC/CG, GG or CG/GG, CC). In general, the scores of PSQI are signicantly different in disgnosis. Except for quality in comparison of groups CC/CG and GG, there are no interactions of diagnosis and this SNP of MTERFD3in other items. We also correlated the different behaviors, such as suicide, anxiety and depression, with this SNP of MTERFD3 and found that this SNP is not associated with these behaviors. To further study the correlation of behaviors and this SNP, we analyzed the data of controls and patients individually and found that this SNP is not associated with these behaviors. To understand if this SNP inloves in MTERFD3gene expression, we cloned the promoter fragments with different alleles on this SNP and found that G allele exerts higher promoter activity than C. Conclusion: The results from this study may provide us more information for development of diagnosis and medical resource utilization for preventing mental diseases in the future.