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  1. For some of those blank PMIDs at the bottom just click thru, copy their title. click edit, then paste next to the PMID.
  2. look at the most requested pages

If anyone is interested in expanding this list or some of the other P450 (CYP) enzymes, this page is quite a bit dated but still has a wealth of information: http://www.cypalleles.ki.se/ --McJosh (talk) 21:38, 3 November 2012 (UTC)

Mitochondrial snp database http://www.mitomap.org/cgi-bin/tbl9gen.pl

Interesting snp based statistical method [PMID 17564963]

http://www.ncbi.nlm.nih.gov/pubmed/18834360 What do we know about the genetics of aspirin intolerance?

ADRA2 C1291G SNP leads to higher consumption of sweets [PMID 17522710]

The authors of A deletion variant of the alpha2b-adrenoceptor is related to emotional memory in Europeans and Africans (doi:10.1038/nn1945), http://henry.simon.net.nz/stories/2007/08/01/the-genetics-of-traumatic-memories-adra2%ce%b2-and-rwandan-refugees/

http://www.eurekalert.org/pub_releases/2007-08/niom-sof072407.php antidepressant citalopram predicted by gene variation



[1] CTLA4 Polymorphism and Hyperthyroid Graves’ Disease Relapse after Antithyroid Drug Withdrawal

[2] Variations in the preproghrelin gene correlate with higher body mass index, fat mass, and body dissatisfaction in young Japanese women

biconductor slides

news mutations TGBF1 are responsible for otosclerosis, the single most common cause of hearing loss among white adults

[PMID 17545304] Tagging SNP haplotype analysis of the secretory PLA2-V gene, PLA2G5, shows strong association with LDL and oxLDL levels, suggesting functional distinction from sPLA2-IIA: results from the UDACS study.

[PMID 17640790] The A644G single nucleotide polymorphism (SNP) within intron 13 of the monoamine oxidase B (MAOB) gene is associated with successful short term (6 week) antidepressant treatment response in females (but not males). Female patients homozygous for the A-allele had a significantly faster and more pronounced antidepressant treatment response than AG or GG-carriers for paroxetine; differences for mirtazapine were similar but not statistically significant.

[PMID 17540666] Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization.

Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma.

[PMID 17536218] A NOS1 polymorphism Associated with Asthma and Specific Immunoglobulin E Response to Mite Allergens in a Colombian Population.

[PMID 17460171] PECAM-1/CD31 in infarction and longevity.

[PMID 17342416] Testing for linkage and association across the dihydrolipoyl dehydrogenase gene region with Alzheimer's disease in three sample populations.

[PMID 17219423] Association between Aurora-A kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population.

[PMID 17196954] Association of IL1B polymorphisms with gastric cancer in a Chinese population.

this pdf from bioblogs #11 is about personalized genomics, and is a good general introduction.

Forbes does some coverage June 2007 including

blog post Eye on DNA from has too much info for me to digest

[PMID 17440066] A variant in the cytochrome p450 oxidoreductase gene POR is associated with breast cancer risk in African Americans.

[PMID 16758323] Polymorphism of apolipoprotein E APOE in relation with Alzheimer's disease and vascular dementia.

omim snps


Personal Genome Project

Arthritis (RA in particular) associated SNPs

Organ rejection/GVH disease, example: VEGF -1154 wrt renal transplants [PMID 11752046]


[PMID 17363630] Strong Association of De Novo Copy Number Mutations with Autism

[PMID 17357145] Increase in GSK3B gene CNVs in bipolar disorder.

Silent mutations, which have important effects [3]

[PMID 17325707] An early acute reaction to radiation and/or the inheritance of the transforming growth factor-beta1 (TGFbeta1 -509T) SNP contributed to the risk of fibrosis. In contrast, an additional 15 Gy electron boost and/or the inheritance of X-ray repair cross-complementing 1 (XRCC1) (R399Q) SNP contributed to the risk of telangiectasia. A combined analysis of two UK breast cancer patient studies shows that 8% of patients are homozygous (TT) for the TGFbeta1 (C-509T) variant allele and have a 15-fold increased risk of fibrosis following radiotherapy compared with (CC) homozygotes.

[PMID 17327435] Results suggest that intron 1 and intron 2 of the ESR1 gene may contain functionally important regions related to Type-2 diabetes or ESRD risk.

[PMID 17334513] The -11377 C > G adiponectin gene promoter variant is i) associated with decreased serum adiponectin levels, ii) correlated with the presence of coronary atherosclerosis and iii) significantly predictive of vascular events among men undergoing coronary angiography.

[PMID 17392738] Interaction between BDNF Val66Met and Dopamine Transporter Gene Variation Influences Anxiety-Related Traits.

[PMID 17236132] A Large-Scale Genetic Association Study Confirms IL12B and Leads to the Identification of IL23R as Psoriasis-Risk Genes.

[PMID 17230510] Evidence for heritable predisposition to epigenetic silencing of MLH1.

[PMID 17223967] Autoimmunity and atherosclerosis: functional polymorphism of PTPN22 is associated with phenotypes related to the risk of atherosclerosis.

[PMID 17143471] Role of the STK15 Phe31Ile polymorphism in renal cell carcinoma.

[PMID 17130514] Polymorphism in the TCF7L2 gene is associated with reduced insulin secretion in nondiabetic women.

[PMID 17088082] Genetic associations in preterm birth: a primer of marker selection, study design, and data analysis.

[PMID 16998812] Systematic replication study of reported genetic associations in Prostate cancer: Strong support for genetic variation in the androgen pathway.

[PMID 16838140] Evidence for association of SLC7A9 gene haplotypes with Cystinuria manifestation in SLC7A9 mutation carriers.

[PMID 16759305] Putative association of peroxisome proliferator-activated receptor gamma co-activator 1beta (PPARGC1B) polymorphism with Type-2 diabetes mellitus.

SNPs in the lymphotoxin-alpha conferred susceptibility to MI [PMID 17071996]

Is alpha-T catenin (VR22) an Alzheimer's disease risk gene? [PMID 17209133]

Personality Disorders

A snp that prevents feeling pain

pain sensitivity

osteoporotic vertebral fractures in postmenopausal women

  • [PMID 17118999] Identification of an aromatase haplotype that is associated with gene expression and postmenopausal osteoporosis.

Neural-tube defects (Birth defects)

Pregnancy risk

Allergic bronchopulmonary aspergillosis (ABPA) (Asthma related)

aspirin's effectiveness in preventing colon cancer

rapid lung function decline

Non-Hodgkin's Lymphoma

Metabolic syndrome in men (but not women) associated with -344C/T variant in CYP11B2 [PMID 17261471]

schizophrenia http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16631129&itool=pubmed_DocSum

choice of chemotherapy

systemic sclerosis

meningococcal disease susceptibility



recurrent venous thromboembolism


Spina Bifida

fasting glucose

A snp to control early wake/sleep cycles

Liver transplant outcomes

SSRI treatment efficacy

cerebral vasospasm


High-Density Lipoprotein-Cholesterol and Overweight

kidney allograft transplantation

H. pylori infection and chronic gastritis

Just too busy

Stone and his colleague, Dr. Val Sheffield, decided the only way their research findings could help patients would be for them to create and offer genetic tests to primary-care physicians
Their goal is to develop a clinically useful test for every eye disease that has a known genetic connection.
However, getting into the testing business, even on a non-profit basis, presents challenges that can be daunting.
Dr. Stone's university-based testing laboratory, operating with a $5 million grant from the Carver family of Muscatine, Iowa, charges patients only for materials and technician time needed to perform tests. Stone tries to get those costs below $500 per test rather than the thousands it typically costs to do such work in a research setting. [8]