Brian Peotter · 23andMe v5 (Illumina GSA)

631,457 markers. One plan.

Cross-referenced against public clinical guidelines, replicated GWAS, PharmGKB/CPIC pharmacogenetics, haplogroup trees, and well-studied nutrition SNPs. Written as a plan, not a scare sheet.

Markers called

631,457

No-call rate

1.71%

Sex

XY

Assembly

GRCh37

Paternal · Y

R1a-L260

R → R1 → R1a → R1a1a (M198) → M417 → Z283 → Z282 → L260

Direct paternal line is European R1a, specifically L260 — a West Slavic branch common in Poland, Czechia, Slovakia, and eastern Germany. Not the Asian R1a-Z93 branch (Z93 was ancestral).

Maternal · mtDNA

J1c

N → R → JT → J → J1 → J1c

Direct maternal line is mitochondrial haplogroup J1c, a Neolithic-farmer lineage that entered Europe from the Near East and is now common across Britain, Ireland, Central Europe, and Scandinavia.

One-page read

  • Ancestry. Northwest / Central European autosomal background. Y is West Slavic R1a-L260. mtDNA is Neolithic farmer J1c.
  • Brain. APOE ε3/ε3 — average Alzheimer risk, not the ε4 genotype.
  • Drugs. Most CPIC genes look standard. The one that changes a prescription is SLCO1B1 (simvastatin).
  • Metabolism. One TCF7L2 and one FTO risk haplotype. Lactase persistent. Fast caffeine clearance.
  • Lungs. MUC5B promoter heterozygote — respect smoke, dust, and a stubborn dry cough.
  • Food. PEMT 175M/M wants dietary choline. MTHFR is 1298C/C without the harsher C677T.

Headline findings

ActWatchFavorable

APOE · rs429358 + rs7412 · T/T + C/C

APOE ε3/ε3

TypicalClinical

The most common genotype. Average late-onset Alzheimer and lipid risk — not ε4, not ε2.

ε4 (rs429358 C) is the well-known Alzheimer and CHD risk allele. ε2 (rs7412 T) is associated with lower Alzheimer risk and a different lipid pattern. This genome is ε3/ε3. That is not protective like ε2, and it is not the elevated-risk ε4 genotype. Microarray cannot see rare APOE coding changes or APP/PSEN mutations.

SLCO1B1 · rs4149056 · C/T

Statin transporter *5 carrier

ActGuideline

One copy of SLCO1B1 c.521T>C. Higher myopathy risk on high-dose simvastatin.

CPIC and the FDA label treat this as decreased OATP1B1 function. Heterozygotes have several-fold higher risk of simvastatin-related muscle injury at 80 mg, and a smaller increase at 40 mg. Atorvastatin, pravastatin, rosuvastatin, and fluvastatin are preferred if a statin is indicated. This does not mean you cannot take a statin — it means the drug and dose should be chosen with this genotype in mind.

If a statin is ever prescribed, prefer non-simvastatin agents or keep simvastatin at a low dose. Mention this result to the prescriber.

MUC5B · rs35705950 · G/T

Pulmonary-fibrosis risk allele

WatchReplicated

One copy of the MUC5B promoter variant. Raises idiopathic pulmonary fibrosis risk, still a rare disease.

The T allele is the strongest common genetic risk factor for IPF (roughly 4–8× in heterozygotes). Lifetime risk remains on the order of about 1% in carriers versus ~0.2% in non-carriers — most people with this genotype never get IPF. Carriers who do develop IPF tend to have better survival than non-carriers. Smoking, agricultural dust, and reflux amplify risk. This is a reason to take unexplained chronic dry cough or breathlessness seriously, not a diagnosis.

Do not smoke. Avoid concentrated organic/agricultural dust. Treat reflux. Stay current on influenza, COVID, and pneumococcal vaccines. See a clinician for unexplained dry cough lasting weeks.

TCF7L2 · rs7903146 · C/T

Type 2 diabetes — strongest common SNP

WatchReplicated

Heterozygous for the T allele. Modest but well-replicated increase in type 2 diabetes risk.

TCF7L2 rs7903146-T is the largest-effect common variant for T2D in European-ancestry GWAS (roughly 1.4× per T allele). It affects incretin signaling and insulin secretion, not just BMI. Combined here with one FTO risk haplotype, the genetic nudge is real but still smaller than body weight, fitness, and diet. Lifestyle change has repeatedly been shown to blunt this risk.

Worth a baseline fasting glucose or HbA1c with a clinician. Resistance training and fiber-rich meals pay extra dividends with this genotype.

ACTN3 · rs1815739 · C/C

ACTN3 RR — power genotype

FavorableReplicated

Two functional R alleles. Fast-twitch fibers express α-actinin-3. Sprint / strength biased.

The X allele (T) prematurely stops the protein. XX is over-represented in endurance elites; RR is over-represented in power sports. RR is the most common genotype worldwide. It is a training hint: this genome should respond well to heavy resistance and high-intensity intervals. It does not make anyone an athlete by itself.

Bias training toward strength and power if the goal is physique or sport. Endurance is still fully trainable.

MCM6 / LCT · rs4988235 + rs182549 · A/G + T/T

Lactase persistent

FavorableClinical

European −13910T is present. Adult milk digestion should be intact.

rs4988235 G is the European persistence allele (plus-strand). Heterozygotes persist. rs182549 T is on the same European haplotype. This does not rule out secondary lactose intolerance after gastroenteritis.