主播
节目简介
来源：小宇宙
在这期节目我们将从算命的角度，带大家翻开消费级基因检测报告的内容，看看我们刻在DNA序列里的信息到底能算得多准。从探讨能否测算伴侣匹配度（求姻缘求子嗣）、长寿概率与潜在的心血管等疾病风险（求长寿求健康），到揭开见光打喷嚏、讨厌香菜、厌声症等身体小怪癖背后的遗传基础（算命也想不到还能算这些），我们还会追溯尼安德特人等古人类基因在我们身上留下的奇妙烙印。
基因从来不是决定人生的绝对宿命，而是一份帮助我们优化生活方式、理解生命演化的小小指南，让我们一起用生命科学的角度，聊聊这份专属的生命盲盒！
加听友群可以加小导游：bio_kiwi
时间点：
🧬 从“算命”切入：基因检测能算什么？
01:15 从生命科学的角度聊聊“基因算命”到底靠谱吗？
03:01 消费级检测普及，它能用来算生辰八字或测算姻缘吗？
07:28 消费级基因检测与严肃医疗级检测的本质区别
08:29 基因信息第一档：明确导致罕见单基因遗传病的突变。
09:31 基因信息第二档：通过大数据统计得出的概率性疾病风险。
11:05 基因信息第三档：样本量小、易被新研究推翻的“图一乐”结论。
❤️ 基因算姻缘与子嗣：配偶、遗传病与身高教育
13:08 求姻缘：著名的T恤实验与基于HLA免疫基因的相亲假说。
18:40 荟萃分析辟谣：基于HLA基因差异来寻找伴侣其实站不住脚。
19:49 HLA基因的真正医疗价值：避免过敏、检查自身免疫病。
25:18 婚姻与出轨基因：从忠贞的草原田鼠与风流的山地田鼠说起。
31:46 夫妻间的基因相似性：身高和受教育程度基因竟高度匹配。
34:50 基因养育效应：父母未遗传给你的那一半基因也会影响教育成就。
38:22 求子嗣：最靠谱的基因检测应用其实是隐性遗传病携带者筛查。
43:33 地域特征遗传病：南方高发的地中海贫血症与疟疾的进化渊源。
⏳ 基因算健康与长寿：患病风险、生活方式与代谢
48:23 求长寿：搞笑诺贝尔奖揭露长寿村背后的年龄造假与社会因素。
53:46 明星长寿基因FOXO3：让线虫寿命翻倍的经典衰老实验。
01:02:47 APOE基因：与心血管疾病、阿尔茨海默症及长寿的复杂纠葛。
01:11:05 检测的现实意义：提前知晓高血压风险并及时改变生活习惯。
01:13:31 2型糖尿病与TCF7L2基因：生活方式的干预效果远超吃药。
01:17:54 酒精代谢基因：东亚人喝酒容易上脸的生理机制与进化假说。
01:21:47 咖啡因代谢差异：慢代谢人群喝太多咖啡容易导致心悸焦虑。
🗺️ 基因算命理与演化：祖源分析与古人类渗入
01:25:54 算命理：祖源分析是如何测算出南方汉族或北方汉族血统的？
01:29:43 藏族人适应高海拔的基因，竟来源于已灭绝的丹尼索瓦人。
01:31:56 尼安德特人的基因渗入如何影响现代人的痛觉与新冠重症风险。
01:37:05 东亚人体貌特征：EDAR基因如何同时影响头发、牙齿和汗腺。
01:38:31 挖耳屎的学问：为什么大部分东亚人是干耳屎且较少有狐臭。
💡 “图一乐”的基因冷知识：财运、饮食与怪癖
01:41:21 求财运：用基因来算风险偏好或者人格类型有几分可信度？
01:47:20 奇特生理反应：见光打喷嚏的ACHOO综合征及远古进化假说。
01:50:56 厌声症探秘：听到吧唧嘴就烦躁？也许真的有部分遗传基础。
01:53:29 香菜厌恶者：为什么部分人闻香菜就像在吃肥皂的化学副产物。
01:54:57 狂吃不胖的“瘦子基因”存在吗？ALK基因控制能量代谢的奥秘。
02:00:51 懒得运动也怪基因？决定久坐不动的大部分基因竟在大脑回路。
🛡️ 测序指南与数据安全
02:06:58 选购避坑建议：不同价位基因产品的差异，及数据库的人群偏差。
02:09:02 基因安全细思极恐：公开的族谱数据如何帮警方抓到连环杀手。
02:11:56 科学看待报告：正确理解患病风险倍数，基因并非人生的全部。
本期提及的相关图片（我们的部分检测结果，供大家参考看看基因检测结果）：
部分提及参考文献：
奶树部分：
Walum H, Westberg L, Henningsson S, et al. Genetic variation in the vasopressin receptor 1a gene (AVPR1A) associates with pair-bonding behavior in humans[J]. Proceedings of the National Academy of Sciences, 2008, 105(37): 14153-14156.
Lee J J, Wedow R, Okbay A, et al. Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals[J]. Nature genetics, 2018, 50(8): 1112-1121.
Karavani E, Zuk O, Zeevi D, et al. Screening human embryos for polygenic traits has limited utility[J]. Cell, 2019, 179(6): 1424-1435. e8.
Zeberg H, Pääbo S. The major genetic risk factor for severe COVID-19 is inherited from Neanderthals[J]. Nature, 2020, 587(7835): 610-612.
Zeberg H, Pääbo S. A genomic region associated with protection against severe COVID-19 is inherited from Neandertals[J]. Proceedings of the National Academy of Sciences, 2021, 118(9): e2026309118.
Yoshiura K, Kinoshita A, Ishida T, et al. A SNP in the ABCC11 gene is the determinant of human earwax type[J]. Nature genetics, 2006, 38(3): 324-330.
Diabetes Prevention Program Research Group. Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin[J]. New England journal of medicine, 2002, 346(6): 393-403.
Hung S I, Chung W H, Liou L B, et al. HLA-B* 5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol[J]. Proceedings of the National Academy of Sciences, 2005, 102(11): 4134-4139.
Wedekind C, Seebeck T, Bettens F, et al. MHC-dependent mate preferences in humans[J]. Proceedings of the Royal Society of London. Series B: Biological Sciences, 1995, 260(1359): 245-249.
蝌蚪部分：
一、求长寿 / 衰老遗传学
Ruby JG, Wright KM, Rand KA, et al. Estimates of the heritability of human longevity are substantially inflated due to assortative mating. Genetics. 2018;210(3):1109-1124. doi:10.1534/genetics.118.301613.
Shenhar B, et al. Heritability of intrinsic human life span is about 50% when confounding factors are addressed. Science. 2026. doi:10.1126/science.adz1187.
Klass MR. A method for the isolation of longevity mutants in the nematode Caenorhabditis elegans and initial results. Mech Ageing Dev. 1983;22(3-4):279-286. doi:10.1016/0047-6374(83)90082-9.
Friedman DB, Johnson TE. A mutation in the age-1 gene in Caenorhabditis elegans lengthens life and reduces hermaphrodite fertility. Genetics. 1988;118(1):75-86. doi:10.1093/genetics/118.1.75.
Kenyon C, Chang J, Gensch E, Rudner A, Tabtiang R. A C. elegans mutant that lives twice as long as wild type. Nature. 1993;366:461-464. doi:10.1038/366461a0.
Kimura KD, Tissenbaum HA, Liu Y, Ruvkun G. daf-2, an insulin receptor-like gene that regulates longevity and diapause in Caenorhabditis elegans. Science. 1997;277(5328):942-946. doi:10.1126/science.277.5328.942.
Ogg S, Paradis S, Gottlieb S, et al. The Fork head transcription factor DAF-16 transduces insulin-like metabolic and longevity signals in C. elegans. Nature. 1997;389:994-999. doi:10.1038/40194.
Lin K, Dorman JB, Rodan A, Kenyon C. daf-16: an HNF-3/forkhead family member that can function to double the life-span of Caenorhabditis elegans. Science. 1997;278(5341):1319-1322.
Willcox BJ, Donlon TA, He Q, et al. FOXO3A genotype is strongly associated with human longevity. Proc Natl Acad Sci U S A. 2008;105(37):13987-13992. doi:10.1073/pnas.0801030105.
Flachsbart F, Caliebe A, Kleindorp R, et al. Association of FOXO3A variation with human longevity confirmed in German centenarians. Proc Natl Acad Sci U S A. 2009;106(8):2700-2705.
Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science. 1993;261(5123):921-923. doi:10.1126/science.8346443.
Garatachea N, Marín PJ, Santos-Lozano A, Sanchis-Gomar F, Emanuele E, Lucia A. The ApoE gene is related with exceptional longevity: a systematic review and meta-analysis. Rejuvenation Res. 2015;18(1):3-13. doi:10.1089/rej.2014.1605.
二、求健康 / 药物基因组学
Lee CR, Luzum JA, Sangkuhl K, et al. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2C19 genotype and clopidogrel therapy: 2022 update. Clin Pharmacol Ther. 2022.
U.S. Food and Drug Administration. Plavix/clopidogrel prescribing information.
Johnson JA, Caudle KE, Gong L, et al. Clinical Pharmacogenetics Implementation Consortium guideline for pharmacogenetics-guided warfarin dosing: 2017 update. Clin Pharmacol Ther. 2017.
U.S. Food and Drug Administration. Warfarin prescribing information.
Cooper-DeHoff RM, Niemi M, Ramsey LB, et al. The Clinical Pharmacogenetics Implementation Consortium guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and statin-associated musculoskeletal symptoms. Clin Pharmacol Ther. 2022. doi:10.1002/cpt.2557.
Amstutz U, Henricks LM, Offer SM, et al. Clinical Pharmacogenetics Implementation Consortium guideline for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing: 2017 update. Clin Pharmacol Ther. 2018. doi:10.1002/cpt.911.
Relling MV, Schwab M, Whirl-Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Clin Pharmacol Ther. 2019;105(5):1095-1105. doi:10.1002/cpt.1304.
Phillips EJ, Sukasem C, Whirl-Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium guideline for HLA genotype and use of carbamazepine and oxcarbazepine: 2017 update. Clin Pharmacol Ther. 2018;103(4):574-581. doi:10.1002/cpt.1004.
三、心血管 / 代谢 / 常见病风险
Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population. Eur Heart J. 2013;34:3478-3490.
Clarke R, Peden JF, Hopewell JC, et al. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med. 2009;361:2518-2528. doi:10.1056/NEJMoa0902604.
McPherson R, Pertsemlidis A, Kavaslar N, et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007;316:1488-1491.
Helgadottir A, Thorleifsson G, Manolescu A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316:1491-1493. doi:10.1126/science.1142842.
Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389. doi:10.1126/science.1109557.
Grant SFA, Thorleifsson G, Reynisdottir I, et al. Variant of transcription factor 7-like 2 gene confers risk of type 2 diabetes. Nat Genet. 2006;38:320-323. doi:10.1038/ng1732.
Hickey SE, Curry CJ, Toriello HV. ACMG practice guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013;15:153-156. doi:10.1038/gim.2012.165.
五、求财 / 能力 / 行为遗传学
Okbay A, Wu Y, Wang N, et al. Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals. Nat Genet. 2022;54:437-449.
Kong A, Thorleifsson G, Frigge ML, et al. The nature of nurture: effects of parental genotypes. Science. 2018;359:424-428.
Hill WD, Davies NM, Ritchie SJ, et al. Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income. Nat Commun. 2019.
Karlsson Linnér R, Biroli P, Kong E, et al. Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Nat Genet. 2019;51:245-257.
六、测序方法 / 表观遗传
Nurk S, Koren S, Rhie A, et al. The complete sequence of a human genome. Science. 2022;376:44-53. doi:10.1126/science.abj6987.
Heijmans BT, Tobi EW, Stein AD, et al. Persistent epigenetic differences associated with prenatal exposure to famine in humans. Proc Natl Acad Sci U S A. 2008;105:17046-17049.
Waterland RA, Jirtle RL. Transposable elements: targets for early nutritional effects on epigenetic gene regulation. Mol Cell Biol. 2003;23:5293-5300.
七、猎奇 / 生活相关遗传学
Eriksson N, Wu S, Do CB, et al. A genetic variant near olfactory receptor genes influences cilantro preference. Flavour. 2012;1:22.
Markt SC, Nuttall E, Turman C, et al. Sniffing out significant “Pee values”: genome wide association study of asparagus anosmia. BMJ. 2016;355:i6071.
Lindesmith L, Moe C, Marionneau S, et al. Human susceptibility and resistance to Norwalk virus infection. Nat Med. 2003;9:548-553.
Brooks PJ, Enoch MA, Goldman D, Li TK, Yokoyama A. The alcohol flushing response: an unrecognized risk factor for esophageal cancer from alcohol consumption. PLoS Med. 2009;6(3):e1000050.
Woodward OM, Köttgen A, Coresh J, et al. Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc Natl Acad Sci U S A. 2009;106:10338-10342.
Cornelis MC, El-Sohemy A, Kabagambe EK, Campos H. Coffee, CYP1A2 genotype, and risk of myocardial infarction. JAMA. 2006;295:1135-1141.
Enattah NS, Sahi T, Savilahti E, et al. Identification of a variant associated with adult-type hypolactasia. Nat Genet. 2002;30:233-237.
Ameur A, Enroth S, Johansson Å, et al. Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. Am J Hum Genet. 2012;90:809-820.
Wang TJ, Zhang F, Richards JB, et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010;376:180-188.
Sollid LM, Lie BA. Celiac disease genetics: current concepts and practical applications. Clin Gastroenterol Hepatol. 2005;3:843-851.
Gardner CD, Trepanowski JF, Del Gobbo LC, et al. Effect of low-fat vs low-carbohydrate diet on 12-month weight loss in overweight adults and the association with genotype pattern or insulin secretion: the DIETFITS randomized clinical trial. JAMA. 2018;319:667-679. doi:10.1001/jama.2018.0245.
基因从来不是决定人生的绝对宿命，而是一份帮助我们优化生活方式、理解生命演化的小小指南，让我们一起用生命科学的角度，聊聊这份专属的生命盲盒！
加听友群可以加小导游：bio_kiwi
时间点：
🧬 从“算命”切入：基因检测能算什么？
01:15 从生命科学的角度聊聊“基因算命”到底靠谱吗？
03:01 消费级检测普及，它能用来算生辰八字或测算姻缘吗？
07:28 消费级基因检测与严肃医疗级检测的本质区别
08:29 基因信息第一档：明确导致罕见单基因遗传病的突变。
09:31 基因信息第二档：通过大数据统计得出的概率性疾病风险。
11:05 基因信息第三档：样本量小、易被新研究推翻的“图一乐”结论。
❤️ 基因算姻缘与子嗣：配偶、遗传病与身高教育
13:08 求姻缘：著名的T恤实验与基于HLA免疫基因的相亲假说。
18:40 荟萃分析辟谣：基于HLA基因差异来寻找伴侣其实站不住脚。
19:49 HLA基因的真正医疗价值：避免过敏、检查自身免疫病。
25:18 婚姻与出轨基因：从忠贞的草原田鼠与风流的山地田鼠说起。
31:46 夫妻间的基因相似性：身高和受教育程度基因竟高度匹配。
34:50 基因养育效应：父母未遗传给你的那一半基因也会影响教育成就。
38:22 求子嗣：最靠谱的基因检测应用其实是隐性遗传病携带者筛查。
43:33 地域特征遗传病：南方高发的地中海贫血症与疟疾的进化渊源。
⏳ 基因算健康与长寿：患病风险、生活方式与代谢
48:23 求长寿：搞笑诺贝尔奖揭露长寿村背后的年龄造假与社会因素。
53:46 明星长寿基因FOXO3：让线虫寿命翻倍的经典衰老实验。
01:02:47 APOE基因：与心血管疾病、阿尔茨海默症及长寿的复杂纠葛。
01:11:05 检测的现实意义：提前知晓高血压风险并及时改变生活习惯。
01:13:31 2型糖尿病与TCF7L2基因：生活方式的干预效果远超吃药。
01:17:54 酒精代谢基因：东亚人喝酒容易上脸的生理机制与进化假说。
01:21:47 咖啡因代谢差异：慢代谢人群喝太多咖啡容易导致心悸焦虑。
🗺️ 基因算命理与演化：祖源分析与古人类渗入
01:25:54 算命理：祖源分析是如何测算出南方汉族或北方汉族血统的？
01:29:43 藏族人适应高海拔的基因，竟来源于已灭绝的丹尼索瓦人。
01:31:56 尼安德特人的基因渗入如何影响现代人的痛觉与新冠重症风险。
01:37:05 东亚人体貌特征：EDAR基因如何同时影响头发、牙齿和汗腺。
01:38:31 挖耳屎的学问：为什么大部分东亚人是干耳屎且较少有狐臭。
💡 “图一乐”的基因冷知识：财运、饮食与怪癖
01:41:21 求财运：用基因来算风险偏好或者人格类型有几分可信度？
01:47:20 奇特生理反应：见光打喷嚏的ACHOO综合征及远古进化假说。
01:50:56 厌声症探秘：听到吧唧嘴就烦躁？也许真的有部分遗传基础。
01:53:29 香菜厌恶者：为什么部分人闻香菜就像在吃肥皂的化学副产物。
01:54:57 狂吃不胖的“瘦子基因”存在吗？ALK基因控制能量代谢的奥秘。
02:00:51 懒得运动也怪基因？决定久坐不动的大部分基因竟在大脑回路。
🛡️ 测序指南与数据安全
02:06:58 选购避坑建议：不同价位基因产品的差异，及数据库的人群偏差。
02:09:02 基因安全细思极恐：公开的族谱数据如何帮警方抓到连环杀手。
02:11:56 科学看待报告：正确理解患病风险倍数，基因并非人生的全部。
本期提及的相关图片（我们的部分检测结果，供大家参考看看基因检测结果）：
部分提及参考文献：
奶树部分：
Walum H, Westberg L, Henningsson S, et al. Genetic variation in the vasopressin receptor 1a gene (AVPR1A) associates with pair-bonding behavior in humans[J]. Proceedings of the National Academy of Sciences, 2008, 105(37): 14153-14156.
Lee J J, Wedow R, Okbay A, et al. Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals[J]. Nature genetics, 2018, 50(8): 1112-1121.
Karavani E, Zuk O, Zeevi D, et al. Screening human embryos for polygenic traits has limited utility[J]. Cell, 2019, 179(6): 1424-1435. e8.
Zeberg H, Pääbo S. The major genetic risk factor for severe COVID-19 is inherited from Neanderthals[J]. Nature, 2020, 587(7835): 610-612.
Zeberg H, Pääbo S. A genomic region associated with protection against severe COVID-19 is inherited from Neandertals[J]. Proceedings of the National Academy of Sciences, 2021, 118(9): e2026309118.
Yoshiura K, Kinoshita A, Ishida T, et al. A SNP in the ABCC11 gene is the determinant of human earwax type[J]. Nature genetics, 2006, 38(3): 324-330.
Diabetes Prevention Program Research Group. Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin[J]. New England journal of medicine, 2002, 346(6): 393-403.
Hung S I, Chung W H, Liou L B, et al. HLA-B* 5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol[J]. Proceedings of the National Academy of Sciences, 2005, 102(11): 4134-4139.
Wedekind C, Seebeck T, Bettens F, et al. MHC-dependent mate preferences in humans[J]. Proceedings of the Royal Society of London. Series B: Biological Sciences, 1995, 260(1359): 245-249.
蝌蚪部分：
一、求长寿 / 衰老遗传学
Ruby JG, Wright KM, Rand KA, et al. Estimates of the heritability of human longevity are substantially inflated due to assortative mating. Genetics. 2018;210(3):1109-1124. doi:10.1534/genetics.118.301613.
Shenhar B, et al. Heritability of intrinsic human life span is about 50% when confounding factors are addressed. Science. 2026. doi:10.1126/science.adz1187.
Klass MR. A method for the isolation of longevity mutants in the nematode Caenorhabditis elegans and initial results. Mech Ageing Dev. 1983;22(3-4):279-286. doi:10.1016/0047-6374(83)90082-9.
Friedman DB, Johnson TE. A mutation in the age-1 gene in Caenorhabditis elegans lengthens life and reduces hermaphrodite fertility. Genetics. 1988;118(1):75-86. doi:10.1093/genetics/118.1.75.
Kenyon C, Chang J, Gensch E, Rudner A, Tabtiang R. A C. elegans mutant that lives twice as long as wild type. Nature. 1993;366:461-464. doi:10.1038/366461a0.
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Ogg S, Paradis S, Gottlieb S, et al. The Fork head transcription factor DAF-16 transduces insulin-like metabolic and longevity signals in C. elegans. Nature. 1997;389:994-999. doi:10.1038/40194.
Lin K, Dorman JB, Rodan A, Kenyon C. daf-16: an HNF-3/forkhead family member that can function to double the life-span of Caenorhabditis elegans. Science. 1997;278(5341):1319-1322.
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Flachsbart F, Caliebe A, Kleindorp R, et al. Association of FOXO3A variation with human longevity confirmed in German centenarians. Proc Natl Acad Sci U S A. 2009;106(8):2700-2705.
Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer’s disease in late onset families. Science. 1993;261(5123):921-923. doi:10.1126/science.8346443.
Garatachea N, Marín PJ, Santos-Lozano A, Sanchis-Gomar F, Emanuele E, Lucia A. The ApoE gene is related with exceptional longevity: a systematic review and meta-analysis. Rejuvenation Res. 2015;18(1):3-13. doi:10.1089/rej.2014.1605.
二、求健康 / 药物基因组学
Lee CR, Luzum JA, Sangkuhl K, et al. Clinical Pharmacogenetics Implementation Consortium guideline for CYP2C19 genotype and clopidogrel therapy: 2022 update. Clin Pharmacol Ther. 2022.
U.S. Food and Drug Administration. Plavix/clopidogrel prescribing information.
Johnson JA, Caudle KE, Gong L, et al. Clinical Pharmacogenetics Implementation Consortium guideline for pharmacogenetics-guided warfarin dosing: 2017 update. Clin Pharmacol Ther. 2017.
U.S. Food and Drug Administration. Warfarin prescribing information.
Cooper-DeHoff RM, Niemi M, Ramsey LB, et al. The Clinical Pharmacogenetics Implementation Consortium guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and statin-associated musculoskeletal symptoms. Clin Pharmacol Ther. 2022. doi:10.1002/cpt.2557.
Amstutz U, Henricks LM, Offer SM, et al. Clinical Pharmacogenetics Implementation Consortium guideline for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing: 2017 update. Clin Pharmacol Ther. 2018. doi:10.1002/cpt.911.
Relling MV, Schwab M, Whirl-Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Clin Pharmacol Ther. 2019;105(5):1095-1105. doi:10.1002/cpt.1304.
Phillips EJ, Sukasem C, Whirl-Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium guideline for HLA genotype and use of carbamazepine and oxcarbazepine: 2017 update. Clin Pharmacol Ther. 2018;103(4):574-581. doi:10.1002/cpt.1004.
三、心血管 / 代谢 / 常见病风险
Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population. Eur Heart J. 2013;34:3478-3490.
Clarke R, Peden JF, Hopewell JC, et al. Genetic variants associated with Lp(a) lipoprotein level and coronary disease. N Engl J Med. 2009;361:2518-2528. doi:10.1056/NEJMoa0902604.
McPherson R, Pertsemlidis A, Kavaslar N, et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007;316:1488-1491.
Helgadottir A, Thorleifsson G, Manolescu A, et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007;316:1491-1493. doi:10.1126/science.1142842.
Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389. doi:10.1126/science.1109557.
Grant SFA, Thorleifsson G, Reynisdottir I, et al. Variant of transcription factor 7-like 2 gene confers risk of type 2 diabetes. Nat Genet. 2006;38:320-323. doi:10.1038/ng1732.
Hickey SE, Curry CJ, Toriello HV. ACMG practice guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013;15:153-156. doi:10.1038/gim.2012.165.
五、求财 / 能力 / 行为遗传学
Okbay A, Wu Y, Wang N, et al. Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals. Nat Genet. 2022;54:437-449.
Kong A, Thorleifsson G, Frigge ML, et al. The nature of nurture: effects of parental genotypes. Science. 2018;359:424-428.
Hill WD, Davies NM, Ritchie SJ, et al. Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income. Nat Commun. 2019.
Karlsson Linnér R, Biroli P, Kong E, et al. Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. Nat Genet. 2019;51:245-257.
六、测序方法 / 表观遗传
Nurk S, Koren S, Rhie A, et al. The complete sequence of a human genome. Science. 2022;376:44-53. doi:10.1126/science.abj6987.
Heijmans BT, Tobi EW, Stein AD, et al. Persistent epigenetic differences associated with prenatal exposure to famine in humans. Proc Natl Acad Sci U S A. 2008;105:17046-17049.
Waterland RA, Jirtle RL. Transposable elements: targets for early nutritional effects on epigenetic gene regulation. Mol Cell Biol. 2003;23:5293-5300.
七、猎奇 / 生活相关遗传学
Eriksson N, Wu S, Do CB, et al. A genetic variant near olfactory receptor genes influences cilantro preference. Flavour. 2012;1:22.
Markt SC, Nuttall E, Turman C, et al. Sniffing out significant “Pee values”: genome wide association study of asparagus anosmia. BMJ. 2016;355:i6071.
Lindesmith L, Moe C, Marionneau S, et al. Human susceptibility and resistance to Norwalk virus infection. Nat Med. 2003;9:548-553.
Brooks PJ, Enoch MA, Goldman D, Li TK, Yokoyama A. The alcohol flushing response: an unrecognized risk factor for esophageal cancer from alcohol consumption. PLoS Med. 2009;6(3):e1000050.
Woodward OM, Köttgen A, Coresh J, et al. Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc Natl Acad Sci U S A. 2009;106:10338-10342.
Cornelis MC, El-Sohemy A, Kabagambe EK, Campos H. Coffee, CYP1A2 genotype, and risk of myocardial infarction. JAMA. 2006;295:1135-1141.
Enattah NS, Sahi T, Savilahti E, et al. Identification of a variant associated with adult-type hypolactasia. Nat Genet. 2002;30:233-237.
Ameur A, Enroth S, Johansson Å, et al. Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. Am J Hum Genet. 2012;90:809-820.
Wang TJ, Zhang F, Richards JB, et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010;376:180-188.
Sollid LM, Lie BA. Celiac disease genetics: current concepts and practical applications. Clin Gastroenterol Hepatol. 2005;3:843-851.
Gardner CD, Trepanowski JF, Del Gobbo LC, et al. Effect of low-fat vs low-carbohydrate diet on 12-month weight loss in overweight adults and the association with genotype pattern or insulin secretion: the DIETFITS randomized clinical trial. JAMA. 2018;319:667-679. doi:10.1001/jama.2018.0245.
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