scholarly journals Alpha-Synuclein RNA Expression is Increased in Major Depression

2019 ◽  
Vol 20 (8) ◽  
pp. 2029 ◽  
Author(s):  
Andrea Rotter ◽  
Bernd Lenz ◽  
Ruben Pitsch ◽  
Tanja Richter-Schmidinger ◽  
Johannes Kornhuber ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Lewy Bodies ◽  
Alpha Synuclein ◽  
Control Group ◽  
Expression Levels ◽  
Healthy Control ◽  
Severity Of Depression ◽  
High Comorbidity ◽  
Mrna Expression Levels

Alpha-synuclein (SNCA) is a small membrane protein that plays an important role in neuro-psychiatric diseases. It is best known for its abnormal subcellular aggregation in Lewy bodies that serves as a hallmark of Parkinson’s disease (PD). Due to the high comorbidity of PD with depression, we investigated the role of SNCA in patients suffering from major depressive disorder (MDD). SNCA mRNA expression levels were analyzed in peripheral blood cells of MDD patients and a healthy control group. SNCA mRNA expression was positively correlated with severity of depression as indicated by psychometric assessment. We found a significant increase in SNCA mRNA expression levels in severely depressed patients compared with controls. Thus, SNCA analysis could be a helpful target in the search for biomarkers of MDD.

Increased Expression of TLR2 and TLR4 in Mononuclear Cells in Patient with Immune Thrombocytopenic Purpura.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 3847-3847 ◽  
Author(s):  
Yunfeng Cheng ◽  
Shanhua Zou ◽  
Feng Li
Keyword(s):  
Plasma Concentration ◽  
Mrna Expression ◽  
Mononuclear Cells ◽  
Control Group ◽  
Gene Expressions ◽  
Expression Levels ◽  
Tnf Α ◽  
Healthy Control ◽  
Ifn Γ ◽  
Mrna Expression Levels

Abstract Immune thrombocytopenic purpura (ITP) is an autoimmune disease characterized by platelet destruction resulting from autoantibodies against self-antigens and T-cell mediated cytotoxicity. Toll-like receptors (TLRs) are pattern recognition receptors important in mediating the immune response and their activation can lead to production of cytokines. Recent data suggest that TLR2 and TLR4 are crucial for the production of inflammatory cytokines and play central role in autoimmune diseases, yet little is known about their roles in ITP. Here we examined the gene expressions of TLR2 and TLR4 in ITP patients. We hypothesize that significant differences will exist between pre-treatment and post-treatment in ITP patients with similar changes reflected in the plasma concentration of cytokines. Total RNA was extracted from mononuclear cells obtained from 12 ITP patients and 15 healthy subjects. TLR2 and TLR4 mRNA expression levels were analyzed using a quantitative real-time PCR method and their protein expressions were validated by western blot. Plasma concentrations of cytokines IL-2, IFN-γ and TNF-α were measured by ELISA. Correlation analyses were carried out between the mRNA expression levels of TLR2 or TLR4 and the plasma levels of IL-2, IFN-γ and TNF-α. The gene expression of TLR2 and TLR4 were significantly increased in ITP patients comparing to healthy control group (p < 0.05 and p < 0.01, respectively). In addition their mRNA expression levels were decreased back into normal range after remission in 8 patients (p > 0.05, compared to healthy control group). Significantly positive correlations were found between the TLR2 mRNA expression level and the plasma concentration of IFN-γ or TNF-α (R = 0.75, p < 0.05; R = 0.83, p < 0.05, respectively). Changes in the gene expression of TLR4 and in the plasma concentration of IFN-γ or TNF-α were also significantly correlated (R = 0.82, p < 0.05; R = 0.88, p < 0.05, respectively). Directional changes in TLR2 / TLR4 and IFN-γ /TNF-α expression were concordant. However, there was no correlation found between TLR2 / TLR4 and IL-2. Differences in TLR2 and TLR4 expression strongly correlated with changes in IFN-γ and TNF-α suggest that the increased gene expressions of TLR2 and TLR4 in ITP patients may contribute to the pathophysiological progression of this disease by increasing the secretion of IFN-γ and TNF-α. Additional studies need to be performed to further clarify the role of TLRs -cytokines pathway in ITP.

scholarly journals Clinical Usefulness of Monitoring Expression Levels ofCCL24(Eotaxin-2) mRNA on the Ocular Surface in Patients with Vernal Keratoconjunctivitis and Atopic Keratoconjunctivitis

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Yukiko Shiraki ◽  
Jun Shoji ◽  
Noriko Inada
Keyword(s):  
Mrna Expression ◽  
Ocular Surface ◽  
Clinical Score ◽  
Clinical Severity ◽  
Vernal Keratoconjunctivitis ◽  
Control Group ◽  
Expression Levels ◽  
Atopic Keratoconjunctivitis ◽  
Clinical Scores ◽  
Mrna Expression Levels

Purpose. This study aimed to evaluate the clinical efficacy of using expression levels ofCCL24(eotaxin-2) mRNA on the ocular surface as a biomarker in patients with vernal keratoconjunctivitis (VKC) and atopic keratoconjunctivitis (AKC).Methods. Eighteen patients with VKC or AKC (VKC/AKC group) and 12 control subjects (control group) were enrolled in this study. The VKC/AKC clinical score was determined by objective findings in patients by using the 5-5-5 exacerbation grading scale. All subjects underwent modified impression cytology and specimens were obtained from the upper tarsal conjunctiva. Expression levels ofCCL24(eotaxin-2) mRNA on the ocular surface were determined using real-time reverse transcription polymerase chain reaction.Results. The VKC group was divided into two subgroups, depending on the clinical score: the active stage subgroup with 100 points or more of clinical scores and the stable stage subgroup with 100 points or less.CCL24(eotaxin-2) mRNA expression levels in the active VKC/AKC stage subgroup were significantly higher than those in the stable VKC/AKC subgroup and the control group. Clinical scores correlated significantly withCCL24(eotaxin-2) mRNA expression levels in the VKC group.Conclusions.CCL24(eotaxin-2) mRNA expression levels on the ocular surface are a useful biomarker for clinical severity of VKC/AKC.

scholarly journals Decreased PERP Expression on Peripheral Blood Mononuclear Cells from Patient with Rheumatoid Arthritis Negatively Correlates with Disease Activity

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Yanchun Du ◽  
Lin Deng ◽  
Yan Li ◽  
Lu Gan ◽  
Yantang Wang ◽  
...  
Keyword(s):  
Disease Activity ◽  
Mrna Expression ◽  
Mononuclear Cells ◽  
Cell Types ◽  
Healthy Controls ◽  
Peripheral Blood Mononuclear ◽  
Expression Levels ◽  
Cell Type Specific ◽  
Mrna Expression Levels

Background. PERP, p53 apoptosis effector related to PMP-22, is a p53-dependent apoptosis in diverse cell types and has cell type-specific roles in p53-mediated apoptosis. However, its role in PBMCs of RA patients has remained largely unclear.Objectives. The aim of this study was to detect the expression levels of PERP on PBMCs of RA patients and healthy controls and analyze the role of PERP in the pathogenesis of RA.Methods. The mRNA expression levels of PERP and IL-17 were detected by real-time PCR in PBMCs from patients with RA (n=40) and healthy controls (n=40). The correlations of PERP expression levels to IL-17 transcripts and disease activity parameters were analyzed.Results. The PERP and IL-17 expression levels in the PBMCs were significantly decreased and increased in comparison of which in healthy controls. The mRNA expression levels of PERP in PBMCs from patients with RA were negatively correlated with IL-17 and disease activity parameters DAS28, RF, CRP, and ESR rather than Anti-CCP and ANA.Conclusions. These results demonstrated that PERP might be involved in the pathogenesis and a potential therapeutic target of RA by regulating the expression of IL-17.

Frequent Epigenetic Inactivation of MSX2 In Acute Myeloid Leukemia

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 4645-4645 ◽  
Author(s):  
Chen Zhao ◽  
Xin Han ◽  
Yu H. Zhang ◽  
Xiaoyan Huang ◽  
Aili Dai ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Cell Lines ◽  
Myeloid Leukemia ◽  
Functional Role ◽  
Methylation Status ◽  
Dna Hypermethylation ◽  
Expression Levels ◽  
Mrna Expression Levels ◽  
Acute Myeloid

Abstract Abstract 4645 DNA hypermethylation has been implicated in the tumorigenesis and prognosis in acute myeloid leukemia (AML). To identify and validate relevant methylated genes in AML, we have compared expression levels and methylation status of 26 candidate genes. One of the interesting candidates identified in our study is MSX2. MSX2 is a member of muscle segment homeobox gene family. MSX2 plays a role in promoting cell growth under certain conditions and may be an important target for RAS signaling pathways. However, the mechanism of transcriptional regulation and functional role of MSX2 in hematological malignancies, especially AML, are poorly understood. In our study, we determined the methylation status, and analyzed the expression levels of MSX2 in AML cell lines and primary AML cells using RT-PCR and/or Taqman real-time PCR. MSX2 mRNA expression was robust in the normal granulocytes and blasts of human bone-marrow, but was either absent or significantly diminished in 6 of 9 (66.7%) AML cell lines. The expression levels of MSX2 in those 6 AML cell lines were restored after treatment of 5-aza 2′-deoxycytidine. In addition, COBRA (Combined Bisulfite Restriction) analysis demonstrated hypermethylation of MSX2 in those AML cell lines (6 of 9, 66.7%), and partial methylation in 3 of 9 AML cell lines. The methylation status was inversely correlated with the mRNA expression levels of MSX2 in those cell lines. Furthermore, the expression levels and methylation status of MSX2 in human primary AML cells were evaluated. COBRA analysis demonstrated frequent hypermethylation of MSX2 in primary AML patient samples (19 of 32, 59.3%). Importantly, the mRNA expression levels of MSX2 as shown by Taqman real-time PCR in those 19 primary AML patient samples were inversely correlated with the methylation status of MSX2. These findings confirmed the role of frequent DNA hypermethylation in silencing MSX2 in AML. We are in the process of determining the functional role of MSX2 in the pathogenesis of AML. In addition, diagnostic and prognostic values of MSX2 in AML are being pursued. Disclosures: No relevant conflicts of interest to declare.

Cytokine Gene Expression and IgA Production in the Spleen of Chickens Infected with Eimeria tenella

2020 ◽  
Author(s):  
Liushu Jia ◽  
Bianhua Zhou ◽  
Hongwei Wang ◽  
Fan Yang ◽  
Guoyong Wang ◽  
...  
Keyword(s):  
Gene Expression ◽  
Mrna Expression ◽  
Morphological Characteristics ◽  
Eimeria Tenella ◽  
Cytokine Gene Expression ◽  
Control Group ◽  
Expression Levels ◽  
New Strategy ◽  
Iga Production ◽  
Mrna Expression Levels

To explore the effect of Eimeria tenella infection on the cytokines gene expression and IgA production in the spleen of chickens, the morphological characteristics of the spleen were observed through optical and transmission electron microscopy. The IgA production was determined through immunohistochemistry. The mRNA expression levels of splenic cytokines were detected through real-time PCR. Compared to the control group, along with the infection of E. tenella, the splenic lymphocytes exhibited irregular and cracked membranes, mitochondria swelled even vacuolization, the IgA expression in spleen tissue was decreased by 55.57% (p lessthan 0.01). Likewise, the mRNA expression levels of IL-2 and IL-1â decreased by 40% (plessthan 0.01) and 43% p lessthan 0.05), respectively. By contrast, the IL-6, IFN-g and IL-10 levels increased by 158% (p lessthan 0.01), 464% (p lessthan 0.05) and 379% p lessthan 0.01), respectively. These results indicated that the spleen implement an important function in the antagonism of E. tenella, which suggest a new strategy to control coccidiosis by improving the peripheral immunity of chickens.

scholarly journals Effect of Short-Term Endurance Exercise on COX IV and PGC-1a mRNA Expression Levels in Rat Skeletal Muscle

2019 ◽  
Vol 12 (3) ◽  
pp. 1309-1316 ◽  
Author(s):  
Nova Sylviana ◽  
Christina Natalia ◽  
Hanna Goenawan ◽  
Yuni Susanti Pratiwi ◽  
Iwan Setiawan ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Mrna Expression ◽  
Endurance Exercise ◽  
Mitochondrial Biogenesis ◽  
Control Group ◽  
Muscle Adaptation ◽  
Rat Skeletal Muscle ◽  
Short Term ◽  
Expression Levels ◽  
Mrna Expression Levels

Endurance exercise induces specific skeletal muscle adaptation by increasing mitochondrial oxidative phosphorylation eficiency and mitochondrial biogenesis. Many previous studies suggesting both PGC-1a and COX IV as a potential biomarker of skeletal muscle adaptation induced by exercise. But most of them only studied the effect of long-term endurance exercise, whereas the effect of short-term exercise remains unclear. To investigate short-term physiological adaptation induced by endurance exercise on expression of COX IV and PGC-1a mRNA in rat skeletal muscle. Twenty healthy male Wistar rats (Rattus norvegicus) aged 10-11 weeks old were used in this experiment. Rats were randomly assigned into 4 groups based on the time period of exercise: 1) control (C; n=5), 2) three days of exercise (E3; n=5), 3) six days of exercise (E6; n=5), 4) fifteen days of exercise (E15; n=5). The exercise groups were run at 20m/s for 30 minutes on the rat treadmill and the stationary control group was only placed inside treadmill with the machines turned off. On the last day of exercise, the rats were sacrificed then RNA from skeletal muscle was extracted. COX IV and PGC-1a mRNA expressions were measured by Reverse Transcriptase PCR. The results showed that there were statistically significant differences of PGC-1a mRNA expression levels in both soleus (F(3,16)=3.740, ps=0.033) and gastrocnemius (F(3,16)=3.969, pg=0.027) muscles. The COX IV mRNA expression levels in soleus (F(3,16)=3.801, ps=0.031) and gastrocnemius (F(3,16)=5.429, ps=0.009) muscles were also significantly increased. There were significant increases of PGC-1a and COX IV expressions in fifteen days of exercise group compared to control group in both muscles. Short-term endurance exercise induced mitochondrial biogenesis marker and mitochondrial activity marker by increasing the PGC-1a and COX IV mRNA expression levels in rat skeletal muscle significantly following the time periods of exercise.

scholarly journals Zika virus infection during pregnancy and induced brain pathology in beclin1-deficient mouse model

2019 ◽  
Author(s):  
Mohan Kumar Muthu Karuppan ◽  
Chet Raj Ojha ◽  
Myosotys Rodriguez ◽  
Jessica Lapierre ◽  
M. Javad Aman ◽  
...  
Keyword(s):  
Growth Factor ◽  
Mouse Model ◽  
Mrna Expression ◽  
Zika Virus ◽  
Neuronal Injury ◽  
Viral Rna ◽  
Expression Levels ◽  
Inflammatory Molecules ◽  
Mrna Expression Levels

ABSTRACTWe investigated the role of the autophagy protein, Beclin1, in the replication and disease of Zika virus (ZIKV) in pregnant dams and their offspring using Beclin1-deficient (Atg6+/−) and wild-type (Atg6+/+) mouse model infected with the Honduran (R103451), Puerto Rican (PRVABC59), and the Uganda (MR766) strains of ZIKV. Pregnant dams infected subcutaneously at embryonic stage (E)9 showed viral RNA in serum harvested at E13 and in various organs removed postmortem at E17. Subcutaneous infections with ZIKV also showed the vertical transmission of ZIKV from the placenta to embryos removed postmortem at E17. From the three isolates, R103451-infected Atg6+/− dams had the lowest mortality rate while 30 % of their offspring containing the hemizygous beclin1 allele (Atg6+/−) were smaller in size and had smaller and underdeveloped brain. Growth impairment in the pups became noticeable after two weeks post-birth. After 21-days, pups were sacrificed and brain tissues removed postmortem showed expression of the envelope (E) and the non-structural (NS)-1 proteins, along with signs of neuronal injury, despite an absence in viral RNA detection. A significant decrease in the mRNA expression levels of the insulin-like growth factor-1 (IGF-1) by 8-fold and a decrease in the mRNA expression levels of several microcephaly related genes along with an increase in the secretion of several inflammatory molecules may have contributed to the observed phenotype. Since autophagy regulates cytokines and chemokines production, a dysregulation in this pathway may have further exacerbated the pathology of ZIKV.IMPORTANCEPups delivered from ZIKV-infected dams showed significant growth impairments in the body and the brain. We believe that the reduction in insulin growth factor together with the increase secretion of inflammatory molecules may have triggered neuronal injury and the downregulation of the microcephalic genes, while reduced expression of the autophagy protein, Beclin1 further exacerbated the pathology. Although the mechanism is still unknown, the autophagy pathway seems to play a key role in ZIKV pathology. It is therefore of great significance to study the role of autophagy during viral infection with the goal to identify potential targets for anti-ZIKV therapeutic intervention.

Molecular and Clinical Characterization of Patients with Myeloid Neoplasms Carrying the 12p Deletion

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 2007-2007
Author(s):  
Vera Adema ◽  
Cassandra M. Hirsch ◽  
Bartlomiej P Przychodzen ◽  
Andrea Pellagatti ◽  
Jacqueline Boultwood ◽  
...  
Keyword(s):  
Mrna Expression ◽  
Board Of Directors ◽  
Transcriptional Factors ◽  
Chromosome 12 ◽  
Complex Karyotype ◽  
Advisory Committees ◽  
Expression Levels ◽  
Myeloid Neoplasms ◽  
Mrna Expression Levels

Abstract Background: Cytogenetic abnormalities have been described in almost 50% of patients with MDS and area strong and independent risk factor for prognosis. The interstitial deletion in the short arm of the chromosome 12 [del(12p)], is a characteristic but rare abnormality in MDS patients. Del(12p) abnormality has been described in approximately 1-5% of patients as a sole anomaly and is also found in up to 4% of patients along with an additional cytogenetic alteration. Isolated del(12p) is classified as a good risk abnormality according to the Revised International Prognostic Scoring Systems (IPSS-R). The commonly deleted region between 12p12.2 and 12p13.1 encompasses the ETV6 gene. To date, besides mutations in the transcriptional factor ETV6 and in the cell signaling KRAS gene, no other molecular mutations have been associated with del(12p). Murine studies have highlighted a role of the transcriptional factors ETV6 and RUNX1 in the impairment of both erythroid and platelets maturation. Here we investigated the presence of alternative molecular factors associated with del(12p) possibly influencing clinical outcomes and disease phenotypes. Methods: We studied the molecular and clinical data of a total of 2834 patients with myeloid neoplasms and found that 3% (93/2834) had alterations in chromosome 12. The median age was 67 years (24-84), with a male: female ratio of 56:37. Del(12p) occurred in 71% of cases (66/93); among them 14% (9/66) had isolated del(12p), 9% (6/66) had del(12p) + 1 additional alteration and 77% (51/66) carried a complex karyotype. The additional alteration to del(12p) included -7/del 7q (N=3), del(5q) (N=1) and t(X;20) (N=1). Cases with del(12p) were also classified according to disease type (MDS=40, AML=16; MDS/MPN=10; P=.057) and according to MDS risk group [lower-risk (33%, 22/66) and higher-risk (45%, 30/66)]. We applied whole exome sequencing and a targeted deep sequencing panel of 64 most frequently mutated genes in myeloid neoplasms. The ETV6 (12p13.2) gene was deleted in 55% (36/66) of cases while the KRAS (12p12) gene was deleted in 32% (21/66) of cases. One-third (32%, 21/66) of patients had deleted both genes. Two patients were hemizygous for KRAS. Results: Comparing patients with del(12p) (isolated, +1 alteration) to patients without alterations in chromosome 12 (n=2741), those with del(12p) had lower hemoglobin levels compared to patients without 12p aberrations (9.2 g/dL (6-16) vs. 9.7 g/dL (3-17); P=.009) and lower platelets counts (47 x109/L (8-577) vs. 73 x109/L (2-2336); P=.04). We noted that patients with isolated del(12p) had a longer median OS compared to patients with del(12p) associated with a complex karyotype [14 months (1-27) vs. 7 months (5-8)] although this difference was not significant. We then analyzed the mutational profile of the del(12p) cohort (isolated, +1 alteration) and compared their mutational spectrum with that of cases diploid for 12p. The most recurrently mutated genes in cases with del(12p) compared to cases diploid for 12p included RUNX1 (27% vs. 7%; P=.01) and DNMT3A (27% vs. 9%; P=.04). When we analyzed all the cases with del(12p) abnormalities (isolated, +1 alteration and complex) the significantly mutated genes were the transcriptional factors TP53 (38% vs. 4%; P=.0001) and RUNX 1 (14% vs. 7%; P=.04) and the histone modifier ASXL1 (21% vs. 10%; P=.01) We then analyzed the gene expression profile of patients carrying the del(12p) abnormality and found that KRAS mRNA expression levels of patients with MDS with del(12p) had a 2-fold reduction compared to the levels of healthy subjects (P=.017). Similarly, we observed also a decrease in ETV6 mRNA expression levels in patients with del(12p) (P=.07). Conclusions: Patients with del(12p) had lower levels of hemoglobin and platelets counts compared to patients without this cytogenetic abnormality. Mutations in transcriptional factors such as RUNX1 were commonly detected in this cohort, suggesting a possible mechanism contributing to the role of ETV6 in the impairment of erythroid and megakaryocytic cell maturation. Disclosures Sole: Celgene: Membership on an entity's Board of Directors or advisory committees. Maciejewski:Alexion Pharmaceuticals Inc: Consultancy, Honoraria, Speakers Bureau; Celgene: Consultancy, Honoraria, Speakers Bureau; Apellis Pharmaceuticals Inc: Membership on an entity's Board of Directors or advisory committees.

scholarly journals The expression of Drosha, DGCR8, Dicer and Ago-2 genes are upregulated in human umbilical vein endothelial cells under hyperglycemic condition

2018 ◽  
Vol 52 (3) ◽  
pp. 123-127 ◽  
Author(s):  
Farhad Ghadiri Soufi ◽  
Ali Akbar Poursadegh Zonouzi ◽  
Ebrahim Eftekhar ◽  
Kamila Kamali ◽  
Sara Aghakhani Chegeni ◽  
...  
Keyword(s):  
Endothelial Cells ◽  
Mrna Expression ◽  
Umbilical Vein ◽  
Control Group ◽  
Human Umbilical Vein ◽  
Expression Levels ◽  
Expression Of Genes ◽  
Mirnas Expression ◽  
Umbilical Vein Endothelial Cells ◽  
Mrna Expression Levels

AbstractObjectives. It has been shown that dysregulation of miRNAs expression contributes to the pathogenesis and progression of the diabetes and diabetes-related complications. Drosha, DGCR8, Dicer, and Ago-2 are involved in the miRNA maturation. The aim of the present study was to investigate the mRNA expression levels of these genes in the human umbilical vein endothelial cells (HUVECs) under hyperglycemic condition.Methods. HUVECs were cultured in normo-(5 mM) and hyperglycemic (25 mM) conditions for 24 h. As osmotic control, cells were treated with D-mannitol (25 mM, for 24 h). The mRNA expression levels of Drosha, DGCR8, Dicer and Ago-2 were evaluated using quantitative real-time PCR.Results. The expression level of Drosha, DGCR8, Dicer, and Ago-2 were increased in hyperglycemic HUVECs compared to the control group.Conclusion. Our results show that under hyperglycemic condition, expression of genes involved in the miRNA maturation was significantly increased in HUVECs. Upregulation of these genes may have role in diabetic complications through the dysregulation of the miRNA expression.

scholarly journals LPA Gene Polymorphisms and Gene Expression Associated with Coronary Artery Disease

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Zi-Kai Song ◽  
Hong-Yan Cao ◽  
Hai-Di Wu ◽  
Li-Ting Zhou ◽  
Ling Qin
Keyword(s):  
Gene Expression ◽  
Mrna Expression ◽  
Gene Polymorphisms ◽  
Control Group ◽  
Case Group ◽  
Chinese Han ◽  
Expression Levels ◽  
Artery Disease ◽  
Cad Risk ◽  
Mrna Expression Levels

The aim of our study was to investigate the influence of LPA gene polymorphisms for CAD risk and Lp(a) in a case-control study of Chinese Han population. In addition, we further analyzed the effect of LPA gene expression on plasma levels of Lp(a) and CAD risk. First, five SNPs (rs1367211, rs3127596, rs6415085, rs9347438, and rs9364559) in LPA gene were genotyped using the SEQUENOM Mass-ARRAY system in two groups. Second, we used quantitative real-time PCR to examine the mRNA expression levels of LPA gene in 92 cases and 32 controls. Results showed that the frequency of rs6415085-T allele was significantly higher in case group than that in control group (P<0.05). Haplotypes were not associated with CAD risk (P>0.05). And cases with the TT/TG genotype had significantly higher plasma Lp(a) levels compared with those that have the rs6415085 GG genotype (P<0.05). Additionally, the mRNA expression levels in case group are significantly higher than that in control group (P<0.05). Our study confirmed that rs6415085 was associated with CAD and increased plasma Lp(a) levels. And increased mRNA expression level of LPA gene may be a mechanism in development of CAD.

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