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rs3798220, also known as I4399M or Ile4399Met, is a SNP in the apolipoprotein(A) LPA gene that has been reported to be associated with elevated plasma lipoprotein(a) [Lp(a)] and increased cardiovascular risk, and in particular, coronary artery disease. In one study, 25,131 initially healthy Caucasian participants in the Women's Health Study were followed for ~10 years. rs3798220(C) allele carriers (3.7%) in the placebo (i.e. not receiving aspirin) group had a 2x higher risk of major cardiovascular events than non-carriers (age-adjusted hazard ratio (HR) of 2.21, CI: 1.39-3.52). Among rs3798220(C) carriers, the risk was reduced more than twofold by aspirin: for aspirin compared with placebo the age-adjusted HR was 0.44 (CI: 0.20-0.94). The risk was not significantly reduced among non-carriers (age-adjusted HR=0.91, CI: 0.77-1.08). This interaction between carrier status and aspirin allocation was significant (P=0.048). In summary, rs3798220(C) carriers had higher plasma lipoprotein(a) and had double the risk of cardiovascular events, but also benefited more from taking aspirin.[PMID 18775538OA-icon.png]
Based on studying autopsies of 700 men in the Helsinki Sudden Death Study, there was a significant interaction between IL-18 genotype and hypertension impacting on the risk of sudden cardiac death (SCD) due to coronary heart disease (CHD). Among rs187238(G;G) homozygotes, hypertension was a major risk factor for SCD due to CHD (adjusted odds ratio 3.75, CI:1.78-7.91, p < 0.001) and hypertension also associated with larger coronary atherosclerotic plaque areas (p = 0.002) and the occurrence of complicated plaques (adjusted OR 8.38, CI: 2.39-29.33, p < 0.001). Among rs187238(C) allele carriers, hypertension was not a significant risk factor for CHD-related SCD or CAD and did not associate with the development of coronary atherosclerotic plaques.[PMID 19687159]
常见的自身免疫病有以下几种： ①系统性红斑狼疮。 ②类风湿性关节炎。 ③系统性脉管炎。 ④硬皮病。 ⑤天疱疮 ⑥皮肌炎 ⑦混合结缔组织病 ⑧自身免疫性溶血性贫血 ⑨甲状腺自身免疫病 ⑩溃疡性结肠炎 The rs3087243 SNP is also known in the literature as the CT60 G>A or the +6230G>A polymorphism, and it is located in the CTLA4 gene. [PMID 16352685] In Asian (Japanese) populations, the presence of an rs3087243(G) allele represents a 1.3 fold increased risk of autoimmune thyroid disease, and for those with autoimmune thyroid disease, a 1.5 fold increased risk of type-1 diabetes. However, in individuals without autoimmune thyroid disease, no association was seen between this SNP and type-1 diabetes. The authors speculate that earlier studies may have reported associations between this SNP and type-1 diabetes that were actually primarily based on the association with autoimmune thyroid disease. This same SNP, rs3087243, has also been implicated as a (minor) risk factor for developing rheumatoid arthritis (RA). A study of 2,000+ European RA patients led to a calculated odds ratio of 1.13 (CI: 1.03 - 1.24) for the rs3087243(G) risk allele. [PMID 16380915OA-icon.png]
CC linked to parkinson's disease [PMID 17905480] We provide evidence for a novel, strong and reproducible association of the PITX3 promoter SNP rs3758549 : C>T (p=0.004) with PD. The C-allele appears to be a recessive risk allele with an estimated population frequency of 83%.
rs2230926, also known as c.380T>G, p.Phe127Cys and F127C, is a SNP in the TNFAIP3 gene on chromosome 6. The tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene encodes the A20 protein, a key molecule in numerous immunologic and other processes due to it's role in controlling NF-κB activation. Meta-analysis found 1.4x risk of rheumatoid arthritis for rs2230926(G;G) [PMID 22402800] 类风湿关节炎（RA）是一种病因未明的慢性、以炎性滑膜炎为主的系统性疾病。其特征是手、足小关节的多关节、对称性、侵袭性关节炎症，经常伴有关节外器官受累及血清类风湿因子阳性，可以导致关节畸形及功能丧失。女性好发，发病率为男性的2～3倍。可发生于任何年龄，高发年龄为40～60岁。
Located close to ApoE4, yet may independently (also) influence risk of Alzheimer's disease. A case-control study of 381 patients found a 2x higher risk for Alzheimer's disease associated with the rarer rs2075650(G) allele. 10.1371/journal.pone.0006501
rs1000113 has been reported in a large study to be associated with Crohn's disease. The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated with heterozygotes is 1.54 (CI 1.31-1.82), and for homozygotes, 1.92 (CI 0.92-4.00). [PMID 17554300OA-icon.png] 本病和慢性非特异性溃疡性结肠炎两者统称为炎症性肠病（IBD）。本病临床表现为腹痛、腹泻、肠梗阻，伴有发热、营养障碍等肠外表现。病程多迁延，反复发作，不易根治。本病又称局限性肠炎、局限性回肠炎、节段性肠炎和肉芽肿性肠炎。临床表现为腹痛、腹泻、腹块、瘘管形成和肠梗阻，可伴有发热、贫血、营养障碍及关节、皮肤、眼、口腔黏膜、肝脏等肠外损害。
Roughly one in three individuals is highly susceptible to motion sickness and yet the underlying causes of this condition are not well understood. Despite high heritability, no associated genetic factors have been discovered. Here, we conducted the first genome-wide association study on motion sickness in 80 494 individuals from the 23andMe database who were surveyed about car sickness. Thirty-five single-nucleotide polymorphisms (SNPs) were associated with motion sickness at a genome-wide-significant level (P < 5 × 10(-8)). Many of these SNPs are near genes involved in balance, and eye, ear and cranial development (e.g. PVRL3, TSHZ1, MUTED, HOXB3, HOXD3). Other SNPs may affect motion sickness through nearby genes with roles in the nervous system, glucose homeostasis or hypoxia. We show that several of these SNPs display sex-specific effects, with up to three times stronger effects in women. We searched for comorbid phenotypes with motion sickness, confirming associations with known comorbidities including migraines, postoperative nausea and vomiting (PONV), vertigo and morning sickness and observing new associations with altitude sickness and many gastrointestinal conditions. We also show that two of these related phenotypes (PONV and migraines) share underlying genetic factors with motion sickness. These results point to the importance of the nervous system in motion sickness and suggest a role for glucose levels in motion-induced nausea and vomiting, a finding that may provide insight into other nausea-related phenotypes like PONV. They also highlight personal characteristics (e.g. being a poor sleeper) that correlate with motion sickness, findings that could help identify risk factors or treatments.
位于17p11.2的点位rs4273077, 其多态性和多发性骨髓瘤风险有关，携带有G等位基因相比A增加多发性骨髓瘤的风险． 参考文献中还包含其它有关点位。 Monoclonal gammopathy of undetermined significance (MGUS) is present in ∼2% of individuals age >50 years. The increased risk of multiple myeloma (MM) in relatives of individuals with MGUS is consistent with MGUS being a marker of inherited genetic susceptibility to MM. Common single-nucleotide polymorphisms (SNPs) at 2p23.3 (rs6746082), 3p22.1 (rs1052501), 3q26.2 (rs10936599), 6p21.33 (rs2285803), 7p15.3 (rs4487645), 17p11.2 (rs4273077), and 22q13.1 (rs877529) have recently been shown to influence MM risk. To examine the impact of these 7 SNPs on MGUS, we analyzed two case-control series totaling 492 cases and 7306 controls. Each SNP independently influenced MGUS risk with statistically significant associations (P < .02) for rs1052501, rs2285803, rs4487645, and rs4273077. SNP associations were independent, with risk increasing with a larger number of risk alleles carried (per allele odds ratio, 1.18; P < 10(-7)).
2018年10月最新出版的 Cancer Management and Research 报道了中国汉族人口肺癌易感性的新点位 Results: rs4759314 was observed to increase the susceptibility of lung cancer, lung adenocarcinoma, squamous lung cancer, and small cell lung cancer statistically significantly (OR of 4.048 for lung cancer; 3.584 for lung adenocarcinoma; 4.671 for squamous lung cancer; 4.502 for small cell lung cancer). In stratified analysis for sex and smoking exposure, rs4759314 GG and AG genotype was also observed to increase the risk of lung cancer statistically significantly (OR of 5.221 for male; 3.491 for female; 3.653 for nonsmoking individuals; 4.458 for smoking individuals).
研究体脂量和肥胖症相关基因(fat mass and obesity associated gene,FTO)单核苷酸多态性与新疆哈萨克族学龄儿童超重及肥胖症的关系.方法 应用聚合酶链反应-限制性片段长度多态性的方法,对141例超重及肥胖(病例组)的哈萨克族学龄儿童和138名健康对照儿童FTO基因rs9939609位点进行分析,同时进行血糖、血脂、胰岛素测定.结果 FTO基因rs9939609在病例组和健康对照组中基因型频率分别为:AA型0.071和0.029,AT型0.511和0.428,TT型0.418和0.543,两组AA、AT和TT 3种基因型频率分布差异无统计学意义(x2=5.74,P=0.057),但AA+AT(突变纯合子+突变杂合子)在病例组[0.582(82/141)]明显高于对照组[0.457(63/138)],差异具有统计学意义(x2=4.368,P=0.037);且在两组人群中A等位基因频率差异具有统计学意义(x2=4.772,P=0.029). 病例组中AA+AT基因型携带者的血糖水平[(4.88±0.51)mol/L]较TT基因型携带者[(4.68±0.56)mol/L]高,差异具有统计学意义.Logistic回归分析显示,A等位基因是超重及肥胖的独立危险因素(OR=0.527;95%CI:0.319～0.869).结论 体脂量和肥胖症相关基因第1内含子rs9939609多态性和新疆哈萨克族学龄儿童超重及肥胖的发生具有相关性.
“软骨发育不全”（发生率：1/25000）是侏儒症的最常见原因之一，而 99% 的软骨发育不全是由FGFR3基因rs28931614位点的G→A突变导致的。这种突变常见于高龄产妇的自发随机突变，是最活跃的突变之一。该位点一旦突变，有较大概率会以常染色体显性遗传（如果还有后代的话）。另外还有一种更加罕见的G→C突变也同样会导致侏儒症。 《权力的游戏》中，兰尼斯特家族的小儿子提利昂（人称“小恶魔”）就是个侏儒，他的母亲生他时难产而死，加之小恶魔自己形貌粗鄙，被高产俊男美女的家族所厌恶，最终走上了杀父叛族的道路。 如果从： 1：小恶魔的哥哥姐姐比小恶魔大8岁， 2：其母因生他死于难产， 3：他们一家人除了他都正常， 来推测的话， 1：他妈妈很可能是高龄产妇， 2：小恶魔的侏儒症很可能来源于其母自发随机突变导致的软骨发育不全， 3：软骨发育不全的突变中rs28931614位点的可能最大（99%）， 所以综上所述小恶魔的突变很可能发生在rs28931614位点，且为AG。 可谓，一个突变引发的血案。
多个研究发现rs588765位点多态性与肺癌的关联, 其中 In two recent (2008) studies, together comprising over 6,000 lung cancer patients of European ancestry, the rs1051730(T) allele was very significantly associated with increased risk. Having one copy (i.e. being a rs1051730(C;T) genotype) increased risk for lung cancer about 1.3x, and having two copies (rs1051730(T;T) individuals) represented 1.8x increased risk. Up to 14% of lung cancer incidence may be attributable to this allele.
传奇人物微软联合创始人保罗·艾伦(Paul Allen)是著名的发明家，投资人，收藏家，球队老板以及商人。在很多科学领域都有他的投资。他1982年诊断出 霍奇金氏淋巴瘤HL，后治愈。 （2009年诊断出 非霍奇金氏淋巴瘤NHL，一度几乎治愈，却又反复复发，近日离世。） ——————————注意，此微解读是针对霍奇金氏淋巴瘤HL的。—————————— 霍奇金淋巴瘤（HL）是淋巴瘤的一种独特类型，为青年人中最常见的恶性肿瘤之一。病初发生于一组淋巴结，以颈部淋巴结和锁骨上淋巴结常见，然后扩散到其他淋巴结，晚期可侵犯血管，累及脾、肝、骨髓和消化道等。经典霍奇金淋巴瘤可分为4种组织学类型：淋巴细胞为主型、结节硬化型、混合细胞型和淋巴细胞耗竭型。近年来WHO分型中增加了一种结节性淋巴细胞为主型。我国最常见为混合细胞型。各型之间可以互相转化。组织学亚型是决定患者临床表现、预后和治疗的主要因素。 非霍奇金淋巴瘤（NHL）是HL以外具有很强异质性的一组独立疾病的总称。在我国也是比较常见的一种肿瘤，在常见恶性肿瘤排位中在前10位以内。此微解读没有涵盖此位点。 实际上，这两种淋巴瘤发病率非常高，也包括很多国内外众多知名人物. blood杂志和nature genetics杂志同年分别发现HL和结节硬化霍奇金氏淋巴瘤NSHL一些风险位点，其中rs6903608 (P = 3.52 × 10−10) C位点是两者共同的风险位点。 仅供参考。
TaqMan-MGB探针法对FGFR2基因rs1219648 AG-GG基因型的女性相对于伴有AA基因型的女性，乳腺癌的患病风险增加了2.34倍（OR AG/AA=3.34,95%CI；1.78,6.28）、1.88倍（OR GG/AA=2.88,95%CI；1.28,6.47）和2.21倍（OR AG-GG/AA=3.21,95%CI；1.76,5.85）. 多因素Logistic回归分析在调整初潮年龄（>13岁）、是否绝经、乳腺良性疾病史和乳腺癌家族史后，发现FGFR2 rs1219648位点A>G的突变（AG-GG/AA）仍可以增加青海女性地区女性乳腺癌的患病风险（OR AG-GG/AA=2.37,95%CI；1.18,4.73）提示FGFR2 rs1219648位点A>G的改变可能是该地区女性人群乳腺癌患病易感性的遗传因子 （限女性）