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Heart and circulation

Three different questions wear the same word. Who furs their arteries, who has a heart attack early, and whose heart falls out of rhythm are separate problems with separate genetics — and this site keeps them on separate pages for that reason.

Why this topic Wearables now tell people about their own rhythm, and an irregular one is the commonest reason a healthy adult is suddenly a patient. Atrial fibrillation is also the place on this site where a single locus keeps reappearing — fifteen of our positions sit near PITX2, all for the same trait.

Source: Nielsen et al., Nature Genetics 2018 — biobank-driven genomic discovery in atrial fibrillation

In the news

2026-04-29 · Mass General Brigham Heart and Vascular Institute & Broad Institute of MIT and Harvard, published in JACC (245,394 All of Us participants; validated in a separate 53,306-person biobank cohort)

Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions

Two of the 8 conditions in this new clinical polygenic risk report are coronary artery disease and atrial fibrillation, both on this page: people in the top 10% of genetic risk were 3.7x more likely to develop coronary artery disease than those at average risk, in a score trained on 245,394 All of Us participants and validated in a separate 53,306-person biobank. The test is now clinically available through Mass General Brigham's Laboratory for Molecular Medicine and Broad Clinical Labs -- a risk score, not a diagnosis or treatment.

2025-10-20 · Zhang et al., Circulation 2025, PMID:41111418

'Asian Flush' Gene Variant Linked to Worse Heart Damage After a Heart Attack

A CityU Hong Kong team studied 177 Chinese patients with acute heart failure following a heart attack: carriers of the ALDH2 mutation behind the "Asian flush" alcohol reaction showed significantly more severe cardiac dysfunction, through a mechanism where the mutated ALDH2 protein loses its normal interaction with eIF3E, letting a cell-death process called ferroptosis run unchecked in heart muscle cells. An early-stage mechanistic finding, not an available treatment or diagnostic test -- see this site's rs671 page for the variant itself.

What this topic connects to

Heart and circulation Variant: rs10455872 rs10455872 Variant Variant: rs3798220 rs3798220 Variant Variant: rs671 rs671 Variant Variant: rs1801133 rs1801133 Variant Variant: rs429358 rs429358 Variant Variant: +225 more +225 more Variant Heart and circulation Heart and circulation

Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.

Variants that share a paper with this

Counted in Europe PMC, where the title or abstract names both this topic and that rsID. The number is papers, not evidence of a cause.

rs10455872

LPA

Parental lifespan (LPA, lipoprotein(a))

37 papers →

rs3798220

LPA

Coronary heart disease

35 papers →

rs671

ALDH2

Alcohol flush reaction

33 papers →

rs1801133

MTHFR

Folate metabolism (MTHFR C677T)

32 papers →

rs429358

APOE

Lewy body disease

32 papers →

rs10033464

PITX2

Atrial fibrillation/atrial flutter

26 papers →

rs4244285

CYP2C19

CYP2C19 *2 — clopidogrel activation

21 papers →

rs13376333

KCNN3

Atrial fibrillation

16 papers →

rs662799

APOA5

Triglyceride levels

16 papers →

rs3825807

ADAMTS7

Coronary heart disease

15 papers →

rs776746

CYP3A5

CYP3A5 expression (*3 allele)

15 papers →

rs1122608

LDLR

Myocardial infarction (early onset)

14 papers →

rs198389

NPPB

B-type natriuretic peptide levels

14 papers →

rs4149056

SLCO1B1

Statin muscle-side-effect risk

14 papers →

rs6025

F5

Blood clotting risk (Factor V Leiden)

13 papers →

rs964184

ZNF259

Triglyceride levels

13 papers →

rs1801131

MTHFR

Folate metabolism (MTHFR A1298C)

12 papers →

rs3807989

CAV1

PR interval

12 papers →

rs4343

ACE

Angiotensin-converting enzyme activity

12 papers →

rs9923231

VKORC1

Warfarin sensitivity

12 papers →

rs1800469

TGFB1

Colorectal cancer

11 papers →

rs5498

ICAM1

Soluble ICAM-1

11 papers →

rs3764261

CETP

HDL cholesterol

10 papers →

rs4986893

CYP2C19

CYP2C19 *3 — clopidogrel activation

10 papers →

rs579459

ABO

Soluble E-selectin levels

10 papers →

rs9939609

FTO

Menarche (age at onset)

10 papers →

rs1746048

CXCL12

Myocardial infarction (early onset)

8 papers →

rs2070600

AGER

Pulmonary function

8 papers →

rs12526453

PHACTR1

Coronary heart disease

7 papers →

rs17114036

PPAP2B

Coronary heart disease

7 papers →

rs6265

BDNF

Smoking behavior

7 papers →

rs1229984

ADH1B

Alcohol metabolism speed

6 papers →

rs17042171

PITX2

Atrial fibrillation

6 papers →

rs1799945

HFE

Iron overload risk (HFE H63D)

6 papers →

rs1883025

ABCA1

HDL cholesterol

6 papers →

rs2107595

HDAC9

Stroke (ischemic)

6 papers →

rs2431697

MIR146A

Systemic lupus erythematosus

6 papers →

rs4420638

APOE

LDL cholesterol

6 papers →

rs6511720

LDLR

Lipoprotein-associated phospholipase A2 activity and mass

6 papers →

rs7164883

HCN4

Atrial fibrillation

6 papers →

rs780094

GCKR

Uric acid levels

6 papers →

rs867186

PROCR

Anticoagulant levels

6 papers →

rs10824026

SYNPO2L

Atrial fibrillation

5 papers →

rs10846744

SCARB1

Lipoprotein-associated phospholipase A2 activity and mass

5 papers →

rs12248560

CYP2C19

CYP2C19 *17 — increased enzyme activity

5 papers →

rs12740374

CELSR2

LDL cholesterol

5 papers →

rs174547

FADS1

Metabolite levels

5 papers →

rs17570669

PITX2

Atrial fibrillation

5 papers →

rs17608766

GOSR2

QRS duration

5 papers →

rs2954029

TRIB1

Triglycerides

5 papers →

rs693

APOB

Cholesterol, total

5 papers →

rs7025486

DAB2IP

Abdominal aortic aneurysm

5 papers →

rs11047543

C12orf67

PR interval

4 papers →

rs11708996

SCN5A

PR interval

4 papers →

rs12413409

CNNM2

Intracranial aneurysm

4 papers →

rs1532624

NLRC5

HDL cholesterol

4 papers →

rs182052

ADIPOQ

Adiponectin levels

4 papers →

rs1994016

ADAMTS7

Coronary artery disease

4 papers →

rs2237892

KCNQ1

Type 2 diabetes

4 papers →

rs2237897

KCNQ1

Type 2 diabetes

4 papers →

rs2282679

GC

Vitamin D levels

4 papers →

rs2479409

PCSK9

LDL cholesterol

4 papers →

rs3853445

PITX2

Atrial fibrillation

4 papers →

rs5370

EDN1

Circulating vasoactive peptide levels

4 papers →

rs6800541

SCN10A

PR interval

4 papers →

rs8176719

ABO

ABO blood type

4 papers →

rs10468017

LIPC

HDL cholesterol

3 papers →

rs12328675

COBLL1

HDL cholesterol

3 papers →

rs12936587

RASD1

Coronary heart disease

3 papers →

rs1689800

ZNF648

HDL cholesterol

3 papers →

rs173539

CETP

HDL Cholesterol - Triglycerides (HDLC-TG)

3 papers →

rs1799964

HLA-DQA2

Crohn's disease

3 papers →

rs1799969

ICAM1

Soluble ICAM-1

3 papers →

rs1800437

GIPR

Obesity

3 papers →

rs1800562

HFE

Iron overload risk (hereditary hemochromatosis)

3 papers →

rs1805126

SCN5A

Electrocardiographic conduction measures

3 papers →

rs186696265

LPA

LDL cholesterol

3 papers →

rs2075650

APOE

Alzheimer's disease (late onset)

3 papers →

rs333

CCR5

HIV-1 resistance (CCR5-delta32)

3 papers →

rs365990

MYH6

Electrocardiographic traits

3 papers →

rs3812316

MLXIPL

Triglycerides

3 papers →

rs4537545

IL6R

C-reactive protein

3 papers →

rs4846914

GALNT2

HDL cholesterol

3 papers →

rs495828

ABO

Hematological and biochemical traits

3 papers →

rs4988235

MCM6 / LCT

Lactose tolerance

3 papers →

rs5215

KCNJ11

Type 2 diabetes

3 papers →

rs6725887

WDR12

Myocardial infarction (early onset)

3 papers →

rs6982502

TRIB1

Hypertriglyceridemia

3 papers →

rs7528419

CELSR2

Lipoprotein-associated phospholipase A2 activity and mass

3 papers →

rs762551

CYP1A2

Caffeine metabolism

3 papers →

rs888663

PGPEP1

Growth differentiation factor-15 levels

3 papers →

rs10423928

GIPR

Obesity

2 papers →

rs1051730

CHRNA3

Smoking behavior

2 papers →

rs10821415

C9orf3

Atrial fibrillation

2 papers →

rs11191548

NT5C2

Systolic blood pressure

2 papers →

rs12678919

LPL

Triglycerides

2 papers →

rs13072552

CP

Serum ceruloplasmin levels

2 papers →

rs13139571

GUCY1A3

Diastolic blood pressure

2 papers →

rs1317082

TERC

Telomere length

2 papers →

rs1339227

RIMS1

Schizophrenia

2 papers →

rs1558902

FTO

Obesity

2 papers →

rs16942887

LCAT

HDL cholesterol

2 papers →

rs17249754

ATP2B1

Blood pressure

2 papers →

rs174546

FADS1

HDL cholesterol

2 papers →

rs2595104

PITX2

Atrial fibrillation

2 papers →

rs268

LPL

Metabolic syndrome

2 papers →

rs2972146

IRS1

Triglycerides

2 papers →

rs3093030

ICAM-1

Soluble levels of adhesion molecules

2 papers →

rs3176326

CDKN1A

Atrial fibrillation

2 papers →

rs3829251

NADSYN1

Vitamin D levels

2 papers →

rs4410790

AGR3

Urinary albumin excretion

2 papers →

rs4919687

CYP17A1

Colorectal cancer

2 papers →

rs602662

FUT2

Pediatric autoimmune diseases

2 papers →

rs603424

SCD

Metabolic traits

2 papers →

rs6742078

UGT1A1

Bilirubin levels

2 papers →

rs6855911

GLUT9

Urate levels

2 papers →

rs7529220

HSPG2

Atrial fibrillation

2 papers →

rs8079702

KCNJ2

Primary tooth development (number of teeth)

2 papers →

rs876537

CRP

C-reactive protein

2 papers →

rs887829

UGT1A1

Bilirubin levels

2 papers →

rs1004446

IGF2AS

Type 1 diabetes

1 paper →

rs1011970

CDKN2A

Breast cancer

1 paper →

rs10224002

PRKAG2

Hemoglobin

1 paper →

rs10401969

NCAN

LDL cholesterol

1 paper →

rs10490626

INSIG2

LDL cholesterol

1 paper →

rs1077835

LIPC

HDL cholesterol

1 paper →

rs10838738

MTCH2

Body mass index

1 paper →

rs1084651

LPA

HDL cholesterol

1 paper →

rs10937273

ADIPOQ

Adiponectin levels

1 paper →

rs11045879

SLCO1B1

Metabolite levels

1 paper →

rs11057830

SCARB1

Vitamin E levels

1 paper →

rs11066015

ACAD10

Esophageal cancer

1 paper →

rs11066301

PTPN11

Hematological parameters

1 paper →

rs11209026

IL23R

Crohn's disease

1 paper →

rs11212617

ATM

Response to metformin in type 2 diabetes (glycemic)

1 paper →

rs1126510

CALM3

Ulcerative colitis

1 paper →

rs113681054

SLCO1A2

AR-C124910XX levels in individuals with acute coronary syndromes treated with ticagrelor

1 paper →

rs11574914

CCL19

Rheumatoid arthritis

1 paper →

rs11708067

ADCY5

Body mass index and fasting glucose (pairwise)

1 paper →

rs1173771

C5orf23

Diastolic blood pressure

1 paper →

rs11773845

CAV1/2

Atrial fibrillation

1 paper →

rs11852372

AGPHD1

Local histogram emphysema pattern

1 paper →

rs11889341

STAT4

Systemic lupus erythematosus

1 paper →

rs12219125

near PLXDC2

Diabetic retinopathy

1 paper →

rs12229654

MYL2

Alcohol consumption

1 paper →

rs12286037

APOC3

Triglycerides

1 paper →

rs12356193

SLC16A9

Uric acid levels

1 paper →

rs12446632

GPRC5B

Obesity

1 paper →

rs1250229

FN1

LDL cholesterol

1 paper →

rs12614435

TTN

Atrial fibrillation

1 paper →

rs12619285

IKZF2

Eosinophil count

1 paper →

rs12696304

TERC

Telomere length

1 paper →

rs12970134

MC4R

Waist circumference and related phenotypes

1 paper →

rs13019803

IL1R1

Serum protein levels (sST2)

1 paper →

rs1320976

ATP1B1

QT interval

1 paper →

rs1327235

JAG1

Blood pressure

1 paper →

rs1469039

KCNK9

Menarche (age at onset)

1 paper →

rs1481012

ABCG2

Gout

1 paper →

rs1530440

c10orf107

Diastolic blood pressure

1 paper →

rs1648707

ADIPOQ

Adiponectin levels

1 paper →

rs16948048

PHB

Diastolic blood pressure

1 paper →

rs16996148

NCAN

LDL cholesterol

1 paper →

rs17145738

TBL2

Triglycerides

1 paper →

rs17251221

CASR

Calcium levels

1 paper →

rs1726866

TAS2R38

Bitter taste perception (TAS2R38 position 262)

1 paper →

rs17366568

ADIPOQ

Adiponectin levels

1 paper →

rs174541

FADS2

Daytime nap

1 paper →

rs1800693

TNFRSF1A

Primary biliary cholangitis

1 paper →

rs1800789

FGB

Fibrinogen

1 paper →

rs1803274

BCHE

Cardiovascular disease risk factors

1 paper →

rs1815739

ACTN3

Muscle fiber type ("sprinter gene")

1 paper →

rs1834481

BCO2

Interleukin-18 levels

1 paper →

rs1864163

CETP

Age-related macular degeneration

1 paper →

rs1997243

GPR146

Cholesterol, total

1 paper →

rs2000999

HPR

LDL cholesterol

1 paper →

rs2040862

WNT8A

Atrial fibrillation

1 paper →

rs2074356

C12orf51

Renal function-related traits (BUN)

1 paper →

rs2081687

CYP7A1

Cholesterol, total

1 paper →

rs2149954

EBF1

Longevity (90 years and older)

1 paper →

rs2251746

FCER1A

IgE levels

1 paper →

rs2289252

F11

Activated partial thromboplastin time

1 paper →

rs242557

MAPT

Atrial fibrillation

1 paper →

rs2470893

ARID3B

Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)

1 paper →

rs2483280

PRDM16

QRS duration

1 paper →

rs251253

NKX2-5

PR interval

1 paper →

rs2622590

XKR4

Serum thyroid-stimulating hormone levels

1 paper →

rs2650000

LEF1

Metabolic traits

1 paper →

rs26528

RABEP2

Inflammatory bowel disease

1 paper →

rs2681472

ATP2B1

Hypertension

1 paper →

rs2710642

EHBP1

LDL cholesterol

1 paper →

rs2727270

FTH1

Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)

1 paper →

rs2731672

F12

Circulating vasoactive peptide levels

1 paper →

rs2736100

TERT

Lung adenocarcinoma

1 paper →

rs2814778

DARC / ACKR1

Duffy blood group (malaria resistance)

1 paper →

rs2834618

LINC01426

Atrial fibrillation

1 paper →

rs2903692

KIAA0350

Type 1 diabetes

1 paper →

rs2968863

KCNH2

QT interval

1 paper →

rs3131379

HLA region

Systemic lupus erythematosus

1 paper →

rs3136739

POLB

Plasma plasminogen activator levels

1 paper →

rs326

SLC18A1

Triglycerides

1 paper →

rs35006907

MTSS1

Atrial fibrillation

1 paper →

rs3757354

IDOL

LDL cholesterol

1 paper →

rs4409766

CYP17A1

Systolic blood pressure

1 paper →

rs4804416

INSR

Thyroid hormone levels

1 paper →

rs4857855

GATA2

Eosinophil count

1 paper →

rs507666

ABO

Soluble ICAM-1

1 paper →

rs560887

G6PC2

Fasting plasma glucose

1 paper →

rs56202902

DMRTA2

Atrial fibrillation

1 paper →

rs564799

IL12A

Systemic lupus erythematosus

1 paper →

rs577676

PRRX1

Prevalent atrial fibrillation

1 paper →

rs6028

SELP

Activated partial thromboplastin time

1 paper →

rs6152

AR

Male pattern baldness tendency

1 paper →

rs6445035

BCHE

Aspirin hydrolysis (plasma)

1 paper →

rs645040

MSL2L1

Triglycerides

1 paper →

rs6503905

C17orf71

Circulating myeloperoxidase levels (plasma)

1 paper →

rs6941513

QKI

Incident myocardial infarction

1 paper →

rs6968865

AHR

Coffee consumption

1 paper →

rs6983561

near POU5F1B

Prostate cancer

1 paper →

rs7255436

ANGPTL4

HDL cholesterol

1 paper →

rs737337

DOCK6

HDL cholesterol

1 paper →

rs742132

SCGN

Uric acid levels

1 paper →

rs7578326

IRS1

Modified Stumvoll Insulin Sensitivity Index (model adjusted for BMI)

1 paper →

rs7612445

GNB4

Atrial fibrillation

1 paper →

rs780093

GCKR

Crohn's disease

1 paper →

rs7901695

TCF7L2

Type 2 diabetes

1 paper →

rs7961581

LGR5

Type 2 diabetes

1 paper →

rs800292

CFH

Circulating myeloperoxidase levels (serum)

1 paper →

rs8099917

IL29

Chronic hepatitis C infection

1 paper →

rs864745

JAZF1

Type 2 diabetes

1 paper →

rs9399599

STXBP5

Plasma plasminogen activator levels

1 paper →

How this was counted

Europe PMC, title and abstract only, searched for “coronary artery disease”, “myocardial infarction”, “atrial fibrillation”, “heart failure” alongside each published rsID. Full text was not counted: it returns every paper with an rsID buried in a supplementary table. Recounted monthly.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Heart and circulation. MyGeneLog™. https://www.mygenelog.com/topics/heart

Questions about Heart and circulation

What is Heart and circulation?

Heart and circulation is this site's topic page bringing together three separate questions that share one word: furred arteries, early heart attacks, and hearts that fall out of rhythm — each a separate problem with separate genetics, kept on its own condition page.

Does a variant linked to heart and circulation mean I will have a heart attack?

No — it depends which heart question the variant belongs to. Furred arteries, an early heart attack and a heart that falls out of rhythm are separate problems with separate genetics, so a variant here ties to just one of them, not to "heart disease" as a whole.

Why does this site treat heart and circulation as one topic if coronary disease, heart attack and atrial fibrillation have separate genetics?

Because "heart" is the single word people search. This topic pools co-mentions across coronary artery disease, heart attack, atrial fibrillation and heart failure under that word, while the condition pages behind it keep each one's genetics apart.

Why does atrial fibrillation get so much attention on this site's heart and circulation topic?

Because fifteen of its published positions cluster near a single gene, PITX2 — an unusually concentrated repeat. It is still one locus among many known contributors to AFib risk, and a wearable's irregular-rhythm alert has plenty of non-genetic causes it cannot tell apart.

How does this site decide which variants are linked to heart and circulation?

Europe PMC is searched for coronary artery disease, myocardial infarction, atrial fibrillation or heart failure appearing in a paper's title or abstract alongside a published rsID — a co-mention, not a cause, recounted every month.