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Table 1 Characteristics of the included studies in alphabetical order, grouped by study type (i.e., GWAS and candidate gene studies)

From: Genetic variants related to physical activity or sedentary behaviour: a systematic review

1st author (year)

Population

Ethnicitya

Sample size, n

(% female)

Age, years

- mean (SD)

- median

- range

GWAS/ candidate gene

Measurement instrument(s)

GWAS

 De Moor (2009) [28]

General (twins)

Two groups

Caucasian

+N/R

2755 (59%)

Total for both groups

43.5 (14.6)/50.0 (18.3)b

N/R

14.5–79.8/19.1–87.2b

GWAS + candidate genes (ACE, CASR, CYP19A1, DRD2, LEPR, MC4R)

Questionnaire (name N/R)

 Doherty (2018) [27]

General

Caucasian

91,105 (56%)

N/R

N/R

45–80

GWAS

Accelerometry (wrist)

 Hara (2018) [29]

General

Japanese

13,980 (55%)

+replication

54.8 (9.4)

N/R

N/R

GWAS + candidate genes (DNAPTP6, PAPSS2, C18orf2, GABRG3, LEPR, RN7SK–SLC44A1)

Questionnaire (IPAQ-s)

 Kim (2014) [75]

General

N/R

8454 (53%)

52.2 (8.9)

N/R

40–69

GWAS

Questionnaire (name N/R)

 Klimentidis (2018) [30]

General

Caucasian

377,234 (N/R)

+replication

N/R

N/R

N/R

GWAS

Questionnaire (IPAQ-l) Subgroup (n = 91,084) accelerometry (wrist)

 Lin (2018) [31]

General (three separate studies)

Main study: African American + Caucasian

11,865 (100%)

N/R

N/R

50–79

GWAS + candidate genes (LEPR, CASR, PAPSS2, DRD2, GABRG3, CYP19A1, ACE, MC4R)

Questionnaires (40-item Jackson Heart Physical Activity Cohort survey) + other questionnaires (name N/R)

Candidate gene studies

 Adamska-Patruno (2019) [76]

General

Caucasian

927 (49%)

40.2 (0.5)c

N/R

N/R

MC4R

Questionnaire (IPAQ-l)

 Berentzen (2008) [77]

General population (males)

Caucasian

551 (0%)

- N/R

- 47.0/49.5 (obese/controls)b

- N/R

FTO

Questionnaire (name N/R)

 Boer (1997) [78]

General (students)

N/R

1994 (N/R)

N/R

N/R

18–26

ApoE

Questionnaire (name N/R)

 Bruneau (2017) [32]

General (adults)

Caucasian

461 (56%)

24.1 (15.7)

N/R

N/R

ACE

Questionnaire (PPAQ)

 Bruneau (2018) [33]

General (adults)

Caucasian

532 (55%)

23.4 (0.2)

N/R

N/R

IL-15

Questionnaire (PPAQ)

 Cole (2010) [34]

General (families with obese children)

Hispanic

1030 (50%)

11.0 (3.9)

N/R

N/R

MC4R

Accelerometry (wrist)

 Camps (2019) [35]

General

N/R

148 (74%)

42 (9)

N/R

18–50

ADRB2, FTO, MC4R, PPARG2, PPARD, PPARGC1A

Accelerometry (waist)

 Espinosa-Salinas (2019) [79]

General

Caucasian

451 (N/R)

N/R

N/R

18–65

64 different genetic variants

Questionnaire (MLTPAQ + frequency question)

 Flack (2019) [36]

General

N/R

178 (71%)

26.9 (8.6)

N/R

18–49

ACE, TPH2, CNR1, DRD3, FTO, HTR2A, DRD2/ANKK1, PAPSS2, LEPR, GABRG3, BDNF, DRD2, COMT, DRD1, DRD4, DBH

Accelerometry (hip)

 Fonseca-Portilla (2019) [80]

General

Latino and Mexican

349 (67%)

42 (N/R)

- N/R

- N/R

BNDF

Questionnaire (name N/R)

 Fuentes (2002) [81]

General (adults)

Caucasian

455 (63%)

44 (N/R)/45 (N/R)b

N/R

N/R

ACE

Questionnaire (name N/R)

 Gielen (2014) [37]

General (twins)

Caucasian

222 (57%)

21 (2)/22 (5)b

N/R

N/R

PPARD, PPARGC1A, NRF1, MTOR

Accelerometry (lower back)

 Goleva-Fjellet (2020) [82]

General

Norwegian or Scandinavian

831 (50%)

55.5 (3.8)

N/R

N/R

ACTN3, ACE, MAOA

Questionnaire (name N/R)

 Good (2015) [83]

General (children)

Diverse

651 (54%)

DNA-samples (15 years old), physical activity level (4.5 years old)

MAOA

Questionnaire (child behaviour questionnaire)

 Grady (2013) [84]

General (elderly)

Caucasian (98%)

310 (71%)

95.2 (N/R)

N/R

90–109

DRD4

Questionnaire (name N/R)

 Haber (2010) [85]

General (men)

N/R

387 (0%)

47 (12.8)

N/R

23–72

5-HT serotonin receptor

Questionnaire (IPAQ, version N/R)

 Hakanen (2009) [38]

General (children)

N/R

438 (N/R)

All 15 years old

FTO

Questionnaire (name N/R)

 Harbron (2014) [86]

General

Caucasian

133 (84%)

32.9 (4.4)

N/R

N/R

FTO

Questionnaire (Baecke Habitual Physical Activity Questionnaire)

 Hubacek (2011) [87]

General

Caucasian

6024 (54%)

58.1 (6.9)

N/R

45–69

FTO

Questionnaire (name N/R)

 Huppertz (2014) [88]

General (twins)

Dutch/Western European

8768 (62%)

32.5 (12.3)

N/R

7–50

DRD1–5

DBH

COMT

DAT1

Questionnaire (name N/R)

 Jensen (2014) [89]

General (children)

N/R

268 (52%)

N/R

N/R

N/R

FADS

Accelerometer (hip)

 Jozkow (2009) [90]

General population (adult men)

Caucasian

360 (0%)

47 (12)

N/R

24–72

Androgen receptor

Questionnaire (IPAQ, version N/R)

 Jozkow (2011) [91]

General population (adult men)

Caucasian

311 (0%)

47 (12)

N/R

24–72

MC4R

Questionnaire (IPAQ version N/R)

 Jozkow (2013) [92]

General population (adult men)

Caucasian

397 (0%)

47 (12)

N/R

24–72

DRD2

DRD4

Questionnaire (IPAQ-l)

 Kirac (2016) [93]

General (obese and healthy)

N/R

200 (N/R)

33.7 (9.4)/27.8 (8.3)b

N/R

N/R

MC4R

FTO

NMB

Accelerometry (hip)

 Klimentidis (2016) [39]

General

Caucasian

(+Hispanic Americans and African-Americans in replication cohort)

7318 (52%)

45.4 (10.9)

N/R

N/R

FTO

Questionnaire (name N/R)

 Lee (2015) [40]

General

Caucasian

492 (53%)

23.5 (0.3)

N/R

N/R

FTO, KCTD15, MC4R, NEGR1, SH2B1, TMEM18

Questionnaire (PPAQ)

 Liu (2010) [41]

General (youth)

Caucasian and African American

750 (46%/56%)b

N/R

N/R

8–12/14-18b

FTO

Questionnaire (name N/R), Accelerometry (n = 525, placement N/R)

 Loos (2005) [42]

General (families)

French-Canadian

669 (55%)

52 (3.4)/28 (8.7)b

N/R

N/R

MC4R, MC3R, NPY

NPY Y1R, CART, AGRP, POMC

Questionnaire (name N/R) + diary (3-days)

 Lorentzon (2001) [94]

General (adolescent girls)

Caucasian

97 (100%)

16.9 (1.2)

N/R

N/R

CASR

Questionnaire (name N/R)

 Luglio (2016) [95]

Obese female adolescents

N/R

78 (100%)

13.7 (0.9)

N/R

13–15

UCP2, UCP3

Questionnaire (name N/R)

 Maestu (2013) [43]

General (adolescents)

N/R

261 (0%)

12.0 (0.8)

ACE

Accelerometry (hip)

 Many (2017) [44]

General (students)

Mainly Caucasian (77%)

288 (52%)

22.4 (2.8)

N/R

18–35

ACTN3, ARDB1, ADRB3

Questionnaire (PPAQ) + single questions

 Moleres (2009) [96]

General (adolescents)

N/R

504 (N/R)

14.5 (1.1)/14.6 (1.1)b

N/R

13–18

IL6

Questionnaire (name N/R)

 Murakami (2014) [45]

General

Japanese

556 (73%)

47.8 (8.0)/49.3 (10.9)/50.5 (9.7)b

N/R

24–65

LEPR

Accelerometer (lower back)

 Murakami (2017) [46]

General

Japanese

648 (74%)

Women 53.7 (11.0)

Men 49.4 (12.5)

N/R

26–82

DRD2/ANKK1

Accelerometry (waist) + questionnaire (name N/R)

 Reddon (2016) [47]

General (high risk for diabetes mellitus typer 2)

Multiple

9228 (N/R)

N/R

N/R

18–85

14 different genes

Questionnaire (name N/R)

 Richert (2007) [48]

General (adolescents)

Caucasian

222 (0%)

7.4 (0.4)

N/R

N/R

LEPR

Questionnaire (name N/R)

 Salmén (2003) [97]

General (early postmenopausal women)

N/R (Finnish)

331 (100%)

52.7 (2.3)

N/R

N/R

CYP19

Single question

 Simonen (2003) [98]

General (family study)

French- Canadian

721 (56%)

Women 40.1 (14.2)

Men 41.2 (15.3)

DRD2

Questionnaire (name N/R) + diary (3-days)

 Van der Mee (2018) [99]

General (twins)

Western European

12,929 (60%)

32.5 (16.0)

N/R

12–90

DRD1, DRD2/ANKK1, DRD3, DBH, COMT, DAT1, DRD4, DRD5, MAOA

Questionnaire (N/R)

 Van Deveire (2012) [49]

General

Caucasian

536 (55%)

23.4 (0.2)

N/R

N/R

ANKRD6

Questionnaire (PPAQ)

 Vimaleswaran (2010) [100]

General (children and adolescents)

N/R

2062 (54%)

9.6 (0.4)/15.5 (0.5)b

N/R

8.4–11.3/14.1–17.8b

PCK1

Accelerometry (placement N/R) + single question

 Walsh (2012) [101]

General (sedentary)

Caucasian

242 (54%)

23.4 (5.4)

N/R

18–39

LEP19

Questionnaire (PPAQ)

 West (2018) [102]

General

Caucasian

408 (20%)

34.9 (9.5)

N/R

N/R

FTO

Questionnaire (IPAQ-s)

 Wilkinson (2013) [50]

General (adolescents)

Mexican and Mexican-American

1130 (51%)

- 14.3 (1.0)

- N/R

- N/R

SNAP25, CNR1, TPH2

ACE

Two questions from the Youth Risk Behavioural Surveillance System

 Winnicki (2004) [51]

Patients (untreated hypertension)

Caucasian

355 (25%)

33 (9)

N/R

N/R

ACE

Questionnaire (name N/R)

 Wong (2012) [52]

Hospital employees

Chinese (in Singapore)

110 (65%)

32.7 (11.2)

N/R

21–61

ACE

Questionnaire (IPAQ-s)

  1. Abbreviations: GWAS genome-wide association study, IPAQ-l International Physical Activity Questionnaire long form, IPAQ-s International Physical Activity Questionnaire short form, MLTPAQ Minnesota Leisure Time Physical Activity Questionnaire, N/R not reported, PPAQ Paffenbarger Physical Activity Questionnaire, SD standard deviation
  2. a Ethnicity: white, European, American European and European descent are reported as Caucasian
  3. b Numbers only reported for the different groups, not for total sample
  4. c Most likely standard error, not specified