1.什么是SNP，关于SNP主要有哪些研究或运用？（话语不需要很学术，只要体现你的理解即可）
单核苷酸多样性，single nucleotide polymorphism SNPs，是在基因组水平上由单个核苷酸的变异所引起的DNA序列多态性。例如，在某个碱基位上，多数人是C， 但少数人会是A，那么这就有个SNP。SNP暗示了人对不同疾病的易感性，病的严重性和人对治疗的反应也会应基因信息的不同而异。例如，在APOE 上的碱基突变与患阿兹海默风险正相关。有些病是与一个SNP关联，有些是与多个snp共同关联，如骨质疏松。
特定的SNP等位基因可被认为是人类遗传疾病的治病因子，从个体中筛选这类等位基因可检查其对病的易感性。SNP可作为遗传作图研究中的遗传标记帮助定位和鉴定功能基因。推算3000个双等位SNP标记将足够进行人类全基因组作图。
应用：
1.association studies，与疾病或特质的联系。SNP 在noncoding region 有更高得癌症的风险，改变mRNA结构， 或 患病风险。SNP在 coding region 会改变蛋白质形成和功能，可能导致功能紊乱或功能缺失。
2.法医取证方面，snp 可在证据样本较少的时候代替STR 来获知种族，表型（眼珠颜色，头发颜色 etc）甚至身份。
3 由于snp跟人体药物代谢有关，它也可以帮助个人制定适合的给药方案。
2.什么是OR值，其统计学意义是什么？（话语不需要很学术，只要体现你的理解即可）
OR值（odds ratio） 又称 比值比、优势比。是流行病学研究中病例对照研究 中的一个常用指标。OR=ad/bc
OR值有可信区间(如95%CI)
意义:
OR值等于1，表示该因素对疾病的发生不起作用；
OR值大于1，表示该因素是危险因素；
OR值小于1，表示该因素是保护因素。
3.列举2-3个你使用过生物或生信相关软件，结合自己经历简要介绍它们的用途。
没用过生物相关软件
4. 根据以下摘要，检索2-3篇相似类型的研究报道，附上文章标题与摘要，并注明检索使用的工具与关键词。
Abstract
Glutathione peroxida 1 (Gpx1) is an endogenous antioxidant enzyme. The T allele of the Pro198Leu polymorphism in the Gpx1 (rs1050450, 198C > T) gene is associated with reduced enzyme activity. The aim of this study was to evaluate the association between Pro198Leu polymorphism and risk of diabetic peripheral neuropathy (DPN). We examined 1244 T2DM patients and 730 healthy controls. In the patient group, 33 % had diabetic peripheral neuropathy. All subjects were genotyped for the Gpx1 Pro198Leu polymorphism by polymera chain reaction and restriction analysis. A significant increa in the T allele and TT genotype frequencies was obrved in DPN pat
ients compared to tho without DPN (OR 1.55, 95 % CI 1.30-1.85 and 1.89, 95 % CI 1.30-2.74, respectively). The association remained significant after correction for age, dia duration, HbA1c and BMI. When distribution of T allele was compared between DPN+ and DPN- subgroups and controls, OR was 1.54 for DPN+ and 1.00 for DPN- patients. In conclusion, our findings suggest that Gpx1 Pro198Leu genotypes are significantly associated with the risk of diabetic peripheral neuropathy in patients with T2DM. The study provides new clinically relevant information regarding genetic determinants of susceptibility to diabetic neuropathy.
Pubmed，关键词见原文荧光部分
Nutr Metab Cardiovasc Dis. 2012 May;22(5):417-25. doi: 10.1016/j.numecd.2010.08.001. Epub 2010 Dec 24.
Association between the rs1050450 glutathione peroxida-1 (C > T) gene variant and peripheral neuropathy in two independent samples of subjects with diabetes mellitus.
Tang TS1, Prior SL, Li KW, Ireland HA, Bain SC, Hurel SJ, Cooper JA, Humphries SE, Stephens JW.
Author information
Abstract
Glutathione peroxida-1 (GPx-1) is an endogenous anti-oxidant enzyme. The T allele of the GPx-1 rs1050450 (C > T) gene variant is associated with reduced enzyme activity. Our aim was to examine the association between this gene variant and peripheral neuropathy in two cross-ctional samples of subjects with diabetes: (i) 773 Caucasian subjects were genotyped from the UCL Diabetes and Cardiovascular dia Study (UDACS) and (ii) 382 Caucasian subjects from the Ealing Diabetes Study (EDS). Peripheral neuropathy status (and oxidid-LDL [Ox-LDL:LDL] and plasma Total Ant-ioxidant Status [TAOS] in UDACS), were analyd in relation to genotype. We obrved that: (i) In UDACS, the odds ratio (OR) for peripheral neuropathy in the T allele carriers compared to the CC genotype was 1.61 [1.10-2.28], p = 0.01. This remained sign
ificant after adjustment for other risk factors. Ox-LDL:LDL ratio was significantly elevated in T allele carriers (CC vs. CT/TT: 16.3 ± 2.4 v 18.0 ± 2.9 U/mmol LDL, p = 0.02). (ii) In EDS, the OR for peripheral neuropathy in the T allele carriers compared to the CC genotype was 1.95 [1.11-3.42], p = 0.02. This remained significant after adjustment for other risk factors. In conclusion, we obrved a significant association between the T allele and peripheral neuropathy and LDL oxidation. This is the first paper to examine the rs1050450 variant in two samples of Caucasian subjects with diabetes. Prospective analysis of the gene variant is required in diabetic and healthy cohorts with measured plasma markers of oxidative stress to investigate the described association further.
Pubmed，同作者
Cytokine. 2016 Mar;79:7-11. doi: 10.2015.12.004. Epub 2015 Dec 17.
Effect of G(-174)C polymorphism in interleukin-6 gene on cardiovascular dia in type 2 diabetes patients.
Buraczynska M1, Zukowski P2, Drop B3, Baranowicz-Gaszczyk I2, Ksiazek A2.
Author information
Abstract
Interleukin-6 (IL-6) is an important pro-inflammatory cytokine of relevance to cardiovascular dias. The aim of this ca-control study was to evaluate the association between the G(-174)C functional polymorphism in the IL-6 gene and risk of cardiovascular dia (CVD) in type 2 diabetes patients. We examined 1090 patients with T2DM and 612 controls. All subjects were genotyped for the G(-174)C polymorphism by polymera chain reaction (PCR) and restriction analysis. There were no significant differences in the distribution of genotypes and alleles between T2DM patients and healthy controls. Significantly higher C allele frequency was obrved in CVD+ patients compared to CVD- subgroup (53% vs. 32%, p<0.0001). The odds ratio for C allele was 2.4 (95% CI 1.99-2.9, p<0.0001) and for CC genotype 4.55 (95% CI 3.12-6.63, p<0.000). When the distribution of G(-174)C polymorphism was compared in subgroups with different clinical phenotypes of CVD, a significant associatio
n of CC genotype with myocardial infarction was obrved. Forty eight percent of patients with MI had the CC genotype compared to 22% of patients without MI (p<0.0001). In conclusion, type 2 diabetes patients carrying the C allele of the IL-6 G(-174)Cpolymorphism have a significantly incread risk of CVD.
Pubmed，but a literature review
Diabetes Res Clin Pract. 2016 Aug 26;120:198-208. doi: 10.1016/j.diabres.2016.08.006. [Epub ahead of print]
Recent advances in exploring the genetic susceptibility to diabetic neuropathy.
Politi C1, Ciccacci C1, D'Amato C2, Novelli G1, Borgiani P3, Spallone V2.
Author information
Abstract
Diabetic polyneuropathy and cardiovascular autonomic neuropathy are common and disa
bling complications of diabetes. Although glycaemic control and cardiovascular risk factors are major contributory elements in its development, diabetic neuropathy recognizes a multifactorial influence and a multiplicity of pathogenetic mechanisms. Thus genetic and environmental factors may contribute to its susceptibility, each with a modest contribution, by targeting various metabolic and microvascular pathways who alterations intervene in diabetic neuropathy pathogenesis. This review is aimed at describing major data from the available literature regarding genetic susceptibility to diabetic neuropathies. It provides an overview of the genes reported as associated with the development or progression of the complications, i.e. ACE, MTHFR, GST, GLO1, APOE, TCF7L2, VEGF, IL-4, GPX1, eNOS, ADRA2B, GFRA2, MIR146A, MIR128A. The identification of genetic susceptibility can help in both expanding the comprehension of the pathogenetic mechanisms of diabetic nerve damage and identifying biomarkers of risk prediction and respon to therapeutic intervention.
