Research on applying genetic and environmental risk score in risk-adapted colorectal cancer screening / 中华流行病学杂志

Objective: To evaluate the effectiveness of a risk-adapted colorectal cancer screening strategy constructed utilizing genetic and environmental risk score (ERS). Methods: A polygenic risk score (PRS) was constructed based on 20 previously published single nucleotide polymorphisms for colorectal cancer in East Asian populations, using 2 160 samples with MassARRAY test results from a multicenter randomized controlled trial of colorectal cancer screening in China. The ERS was calculated using the Asia-Pacific Colorectal Screening Score system. Logistic regression was used to analyze the association between PRS alone and PRS combined with ERS and colorectal neoplasms risk, respectively. We also designed a risk-adapted screening strategy based on PRS and ERS (high-risk participants undergo a single colonoscopy, low-risk participants undergo an annual fecal immunochemical test, and those with positive results undergo further diagnostic colonoscopy) and compared its effectiveness with the all-acceptance colonoscopy strategy. Results: The high PRS group had a 26% increased risk of colorectal neoplasms compared with the low PRS group (OR=1.26, 95%CI: 1.03-1.54, P=0.026). Participants with the highest PRS and ERS were 3.03 times more likely to develop advanced colorectal neoplasms than those with the lowest score (95%CI: 1.87-4.90, P<0.001). As the risk-adapted screening simulation reached the third round, the detection rate of the PRS combined with ERS strategy was not statistically different from the all-acceptance colonoscopy strategy (8.79% vs. 10.46%, P=0.075) and had a higher positive predictive value (14.11% vs. 10.46%, P<0.001) and lower number of colonoscopies per advanced neoplasms detected (7.1 vs. 9.6, P<0.001). Conclusion: The risk-adapted screening strategy combining PRS and ERS helps achieve population risk stratification and better effectiveness than the traditional colonoscopy-based screening strategy.

Hp infection and expression of TGF-βR II,IL-6 and TNF-α in patients with chronic atrophic gastritis / 中国免疫学杂志

Objective:To investigate the effect of Helicobacter pylori(Hp) infection in patients with chronic atrophic gastritis (CAG) and the expression of transforming growth factor-β receptorⅡ,interleukin 6 and tumor necrosis factor-α in gastric mucosa.Methods:76 cases of gastroscope biopsy specimens were collected in the CAG patients,the infection of Hp was detected by PCR fluorescence,and immunohistochemical staining was used to determine the expression of TGF-βRⅡ,IL-6 and TNF-α in gastric foveolar epithelium and stromal inflammatory cells.Results:There were significant differences in chronic inflammation between Hp-positive and Hp-negative group (P<0.05).Expression of IL-6 in stromal inflammatory cells was significantly different between Hp-positive and Hp-negative group (P<0.05).Expression of TGF-βRⅡ and TNF-α was not significantly different in two groups(P>0.05).IL-6 expressed instromal inflammatory cells were correlated with chronic inflammation (r=0.249,P=0.03).The degree of intestinal metaplasia and dysplasia were correlated with the atrophic severity respectively(r=0.697,0.366).Conclusion:IL-6 is related to the chronic inflammation in patients with CAG who has Hp infection.The chronic atroplic severity promotes the development of intestinal metaplasia and dysplasia.

Application of shear wave elastography in the evaluation of neck-shoulder myofascial pain syndrome / 中国骨伤

<p><b>OBJECTIVE</b>To study clinical value of shear wave elastography (SWE) in the evaluation of neck-shoulder myofascial pain syndrome.</p><p><b>METHODS</b>From December 2013 to July 2014,30 patients diagnosed as neck-shoulder myofascial pain syndrome were in the treatment group,including 17 males and 13 females, with an average age of (44 ± 3) years old. Thirty healthy people were in the control group, including 22 males and 8 females, with a mean age of (37 ± 5) years old. The patients in the treatment group were treated with manipulation, once every other day, total 7 times. The SWE was used to detect tension part of trapezius muscle of patients in the treatment group before and after treatment, as well as to detect muscle belly at the descending part of trapezius muscle in the control group. The tissue elasticity and Yang's modulus value were recorded and compared.</p><p><b>RESULTS</b>The tissue elasticity chart of patients in the treatment group before treatment was mainly greenish blue with the score of 3.70 ± 1.53, and the Yang's modulus was (43.4 ± 15.6) kPa. The tissue elasticity figure after treatment was mainly blue with the score of 2.40 ± 0.87, and the Yang's modulus was (29.0 ± 5.9) kPa. Whereas in the control group, the tissue elasticity figure was mainly blue with the score of 1.60 ± 0.72, and the Yang's modulus was (24.0 ± 7.6) kPa. These were statistical differences between the two groups (P = 0.000).</p><p><b>CONCLUSION</b>SWE can be used as an evaluation method of manipulation treatment for neck-shoulder myofascial pain syndrome, which is an objective and sensitive detection method.</p>

Polymorphism rs738409 in PNPLA3 is associated with inherited susceptibility to non-alcoholic fatty liver disease / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To study the relationship between the patatin-like phospholipase domain-containing protein 3 (PNPLA3) gene and hereditary susceptibility to non-alcoholic fatty liver disease (NAFLD) by detecting single nucleotide polymorphisms (SNPs).</p><p><b>METHODS</b>Peripheral blood DNA from 315 patients diagnosed with NAFLD (including the spectrum of simple steatosis (SS) and non-alcoholic steatosis (NASH)) and 336 control subjects was used to determine the PNPLA3 genotype by polymerase chain reaction (PCR) and direct sequencing. The relationship of SNPs and NAFLD-related markers of liver function were assessed by correlation analysis.</p><p><b>RESULTS</b>The SNP rs738409 was identified in more of the NAFLD patients (allele variant frequencies: NAFLD, 65.40%; NASH: 71.87%; SS, 56.47%) than in the controls (33.18%). Case-control analysis revealed that carriers of the 148GG genotype were at 3.81-fold (95% CI: 3.03 ~ 4.79) higher risk of developing NAFLD and at 1.97-fold (95% CI: 1.41 ~ 2.75) higher risk of progressing from SS to NASH, compared with non-carriers. rs738409 was also found to be associated with serum levels of alanine aminotransferase (ALT) and y-glutamyltransferase (y-GT) (both P less than 0.05). Carriers of the 148GG genotype had significantly higher body mass index, ALT, and fasting insulin than carriers of the 148CC genotype (all P less than 0.05), and significantly higher level of serum HDL than carriers of either the 148CC genotype or the 148GC genotype (both P less than 0.05).</p><p><b>CONCLUSION</b>Polymorphisms in the PNPLA3 gene may play an important role in mediating susceptibility to developing NAFLD in the Chinese population. The rs738409 polymorphism, in particular, is related to development and progression of NAFLD and may play a role in the contribution of PNPLA3 to NAFLD pathogenesis.</p>

Association study on single nucleotide polymorphisms in HTRA1 gene and rheumatoid arthritis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the association between the single nucleotide polymorphisms (SNPs) in the high-temperature requirement A-1 (HTRA1) gene and rheumatoid arthritis (RA) in Chinese Han population.</p><p><b>METHODS</b>Five SNPs in the HTRA1 gene (rs2014307, rs2248799, rs2300433, rs714816 and rs2268356) were genotyped by ABI Snapshot method in Han Chinese cohort composed of 344 patients with RA and 288 healthy controls. The serum rheumatoid factor (RF) and C-reactive protein (CRP) of the patients were determined by endpoint nephelometry method.</p><p><b>RESULTS</b>Genotypes of all the five SNPs in the HTRA1 gene were not significantly different between the RA patients and controls (P> 0.05). Haplotypes generated by these five SNPs did not show significantly difference between the two groups either (P> 0.05). Serum RF levels in the RA patients had no significant difference among the genotypes for four SNPs (rs2014307, rs2248799, rs714816, and rs2268356) in the HTRA1 gene, while RF levels in the RA patients with genotypes AA+AG of the rs2300433 locus were significantly higher than that in genotype GG carriers (P< 0.05). Serum CRP levels in the RA patients had no significant difference among the genotypes for all the five SNPs.</p><p><b>CONCLUSION</b>Author's results suggested that although the five SNPs in the HTRA1 gene were not associated with RA in Chinese Han population, RF levels in the RA patients with genotypes AA and AG in the rs2300433 locus were significantly higher than the GG carriers. The HTRA1 role in RF regulation needs to be further investigated.</p>

Advances in molecular genetic study of myopia / 中华医学遗传学杂志

Myopia is an important cause of blindness, in which an image is focused in front of the retina. Genetic factors have been implicated in the pathogenesis of myopia. Based on the molecular genetic study, some genetic loci linked to myopia have been mapped, but no disease-causing gene has been identified. Here authors review the genetic study on myopia, including gene mapping and candidate gene screening.

Down-regulation of APLP1 mRNA expression in hippocampus of pilocarpine-induced epileptic rats / 神经科学通报·英文版

<p><b>OBJECTIVE</b>To investigate the expression of amyloid beta precursor-like protein 1(APLP1) gene on the transcription level in hippocampus of pilocarpine-induced epileptic rats.</p><p><b>METHODS</b>Epileptic rats were developed by LiC1 (3 mmol/kg, i.p.) approximately 20 h prior to pilocarpine (30 mg/kg, i.p.) administration. The 3' end partial sequence of rat APLP1 gene was cloned, and the expression levels of APLP1 mRNA in hippocampus of epileptic rats at 6 h, 30 h, 7 d and 15 d were determined by semi-quantitative RT-PCR.</p><p><b>RESULTS</b>The 3'end partial sequence of rat APLP1 gene shared a 97% homology with that of mice, and 90% with that of human. The APLP1 amino acid sequence of rat was identical with that of mouse, but was different from that of human in 3 residues. Moreover, pilocarpine induced a significant down-regulation of APLP1 mRNA expression at 6 h after epilepsy initiation (P< 0.05), and at 30 h, this down-regulation became more dramatic (P< 0.01), which lasted till day 15 (P< 0.01).</p><p><b>CONCLUSION</b>The 3' end of APLP1 gene is highly conserved, and APLP1 mRNA expression is kept at low level in hippocampus of pilocarpine-induced epileptic rats.</p>

Linkage analysis of one family with autosomal dominant high myopia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To map the high myopia gene in a Chinese family with autosomal dominant high myopia.</p><p><b>METHODS</b>A family with autosomal dominant high myopia in three generations was collected. Eighteen short-tandem-repeat markers on previously reported loci linked to high myopia were chosen for genotyping and two-point linkage analysis was carried out.</p><p><b>RESULTS</b>The spherical equivalent of affected individuals ranges from -6.00D to -20.00D and the genetic pattern is autosomal dominant. The LOD score was less than -1 in all 18 microsatellite markers, indicating that there was no linkage between these markers and the high myopia related genes in this family.</p><p><b>CONCLUSION</b>A novel myopia locus for high-grade myopia may exist in the kindred. Genome-wide scan will be needed to determine this novel locus.</p>