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. Author manuscript; available in PMC: 2020 Jun 15.
Published in final edited form as: Biochim Biophys Acta Mol Basis Dis. 2018 Sep 1;1865(7):1718–1744. doi: 10.1016/j.bbadis.2018.08.039

Table 1.

Loci for human longevity identified by GWAS.

Study Cohort n Locus Marker LOD p Gene(s)
Singh, 2017 [100] LLFS 3876 1p13.3 rs201856309 – 1.67E-09 NBPF6; NBPF5
Pilling, 2017 [98] UKB 389,166 Chr 1 rs602633 – 2.7E–08 CLESR2 … PSRC1
Chr 1 (rare) rs146254978 – 4.6E–08 FPGT/TNNI3K
Singh, 2017 [100] LLFS 3876 2p22.1 rs116083259 – 1.17E-08 CAPN9; C1ORF
Boyden, 2010 [101] NECS 279 sibs 3p24.2–22.3 rs28150 4.02 – TOP2B
Puca, 2001 [102] Boston 137sibs 4q25 D4S1564 3.26 – –
Sebastiani, 2017 [97] MCCb 8329 4q25 rs28391193 – 2.0E–07 ELOVL6
Deelen, 2014 [92] MCCa 23,850 5q33.3 rs2149954 – 1.7E-08 EBF1
(6 repl)
Edwards, 2011 [103] CAMP 263 ped Chr 6 rs1409014 4.49 – BMP5
Edwards, 2013 [104] CAMP 263 ped 6q25–27 rs1247322 3.2 – PLG/MAP3K4
−rs1247363
6q25–27 rs16892673 3.2 – PARK2
−rs16892700
Broer, 2015 [93] CHARGE 9793 Chr 6 rs2802292 – 1.85E–10 FOXO3
McDaid, 2017 [96] UKB 116,279 Chr 6 rs10455872 – 1.60E-08 LPA
(5 repl)
Pilling, 2017 [98] UKB 389,166 Chr 6 rs28383322 – 5.3E–11 HLA-DRB1…HLA-DQA1
Chr 6 rs55730499 – 1.7E–18 LPA
Chr 6 rs1627804 – 4.0–08 BEND3
Chr 6 (F) rs3130507 – 2.1E–10 PSORS1C3 …
Chr 6 (M) rs3131621 – 3.6–08 MICA … MICB
Joshi, 2017 [74] UKB, 606,059 Chr 6 rs55730499 – 8.67E–11 LPA
CHARGE-EU rs34831921 – 4.18E–08 HLA-DQA1/DRB1
Edwards, 2011 [103] CAMP 263 ped Chr 7 rs517258 3.11 – –
Pilling, 2016 [105] UKB 75,224 Chr 7 rs528161076 – 3.40–08 AP5Z1
Zeng, 2016 [106] CLHLS 4965 Chr 7 rs2069837 – 4.05E-08 IL6
(4 repl)
Sebastiani, 2017 [97] MCCb 8329 Chr 7 rs3764814 – 5.00–15 USP42
(2 repl)
Beekman, 2013 [91] GEHA 2118 sibs 8p11.21 rs801100 3.61 – –
−q13.1 (M) rs4368961
Pilling, 2017 [98] UKB 389,166 Chr 8 rs7844965 – 7.7E–09 EPHX2
Chr 8 (M) rs13262617 – 3.1E–08 TOX
Boyden, 2010 [101] NECS 279 sibs 9q31.3–34.2 rs536861 3.89 – TLR4; DBC1
Minster, 2015 [107] LLFS 3140 sibs 9p24.2 – 3.36 – –
(2 repl) p23 (F)
Pilling, 2016 [105] UKB 75,224 Chr 9 rs75824829 – 4.00–08 C9orf62
McDaid2017 [96] UKB 116,279 Chr 9 rs1333045 – 1.77E-08 CDKN2B-AS1 (ANRIL)
(5 repl)
Pilling, 2017 [98] UKB 389,166 Chr 9 rs1556516 – 4.7E–16 CDKN2B-AS1 (ANRIL)
Singh2017 [100] LLFS 3876 10p15 rs1019025 – 4.65–08 KLF6
(1 repl)
Pilling, 2017 [98] UKB 389,166 Chr 11 (M) rs61905747 – 5.5E–09 ZW10
Chr 11 (rare) rs139137459 – 2.7E–08 USP2-AS1
Boyden, 2010 [101] NECS 279 sibs 12q24.31–24.33 rs1732462 4.05 – –
Sebastiani, 2017 [97] MCCb 8329 Chr 12 rs7976168 – 4.00E-09 TMTC2
(2 repl)
Pilling, 2017 [98] UKB 389,166 Chr 12 rs7137828 – 3.4E–14 SH2B3/ATXN2
Zeng2016 [106] CLHLS 4965 Chr 13 rs2440012 – 4.89E-08 ANKRD20A9P
(4 repl)
Pilling, 2017 [98] UKB 389,166 Chr 13 (F) 13:31871514 – 4.7E–08 B3GALTL
Chr 13 (F) rs61949650 – 2.9E–08 (intergenic)
Edwards2011 [103] CAMP 263 Chr 14 rs764602 4.17 – BMP4
Beekman, 2013 [91] GEHA 2118 sibs 14q11.2 rs10484218 3.47 –
−rs977870
Pilling, 2017 [98] UKB 389,166 Chr 14 rs61978928 – 2.0E–08 PROX2
Beekman, 2013 [91] GEHA 2118 sibs 15q12– rs1871009 – 3.16 –
q14 rs580839
Joshi2016 [95] UKB 116,425 15q24 rs10519203 – 4.80–11 CHRNA3/5
(3 repl) (M)
Joshi, 2017 [74] UKB, CHARGE-EU 606,059 Chr 15 rs8042849 – 3.75E–14 CHRNA3/5
Pilling, 2016 [105] UKB 75,224 Chr 15c rs1061730 – 3.00–08 CHRNA3/5
McDaid, 2017 [96] UKB 116,279 Chr 15 rs951266 – 4.33–10 CHRNA5
(5 repl)
Pilling, 2017 [98] UKB 389,166 Chr 15 rs1317286 – 1.2E–26 CHRNA3
Chr 15 rs17514846 – 7.1E–10 FURIN
Chr 15 (M) rs74011415 – 1.4E–08 SEMA6D
Beekman, 2013 [91] GEHA 2118 sibs 17q12– rs2429990 3.47 – –
q22 −rs12949910
Tanaka, 2016 [108] HRS 5716 Chr 18 rs35715456 – 2.89E-08 SMAD7
(3 repl)
Pilling, 2017 [98] UKB 389,166 Chr 18 rs28926173 – 2.3E–08 MC2R
Deelen, 2011 [52] LLS 2073 19q13.32 rs2075650 – 3.39E-17 TOMM40/APOE/APOC1
(2 repl)
Nebel2011 [89] German 1848 Chr 19 rs440638 – 1.80–10 TOMM40/APOE/APOC1
(2 repl)
Sebastiani, 2012 [90] NECS 51141 19q13.32 rs2075650 – 1.03E-08 TOMM40/APOE/APOC1
(2 repl)
Beekman, 2013 [91] GEHA 2118 sibs 19p13.3 rs432001 3.76 – –
−13.11 −rs919333
19q13.11 rs7250748 3.57 – TOMM40/APOE/APOC1
q13.32 −rs10403760
19q13.33– rs1236093 4.97 – –
q13.41 (M) −rs1661965
Deelen, 2014 [92] MCCa 23,850 19q13.32 rs4420638 – 3.4E-36 TOMM40/APOE/APOC1
(6 repl)
Broer, 2015 [93] CHARGE 9793 Chr 19 rs2075650 – 2.4E-10 TOMM40/APOE/APOC1
Fortney, 2016 [94] MCCd 25,166 Chr 19 rs2075650 – 2.40E-13 TOMM40/APOE/APOC1
(4 repl)
Joshi, 2016 [95] UKB 116,425 19q13 (F) rs429358 – 4.20E-15 TOMM40/APOE/APOC1
(3 repl)
Joshi, 2017 [74] UKB CHARGE-EU 606,059 Chr 19 rs429358 – 1.44E-27 TOMM40/APOE/APOC1
McDaid, 2017 [96] UKB 116,279 Chr 19 rs4420638 – 4.33E-08 TOMM40/APOE/APOC1
(5 repl)
Pilling, 2017 [98] UKB 389,166 Chr 19 rs429358 – 1.4E–74 APOE/APOC1
Chr 19 (M) rs12461964 – 8.2–09 EGLN2…CYP2A6
Chr 19 (M) rs74444983 – 9.1E–09 EXOC3L2...MARK4
Sebastiani, 2017 [97] MCCb 8329 Chr 19 rs6857 – 2.00E-27 TOMM40/APOE/APOC1
(2 repl) Chr 19 rs769449 – 1.00E-23 TOMM40/APOE/APOC1
Chr 19 rs59007384 – 5.00E-15 TOMM40/APOE/APOC1
Pilling, 2017 [98] UKB 389,166 Chr 20 rs610784 – 1.2E–10 C20orfl87
Chr 20 rs2273500 – 1.5E–08 CHRNA4

Abbreviations in column 2: CAMP, Collaborative Aging and Memory Project; CHARGE, Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium; CLHLS, Chinese Longitudinal Health Longevity Survey; GEHA, Genetics of Healthy Aging in Europe; HRS, Health and Retirement Study; LLFS, Long Life Family Study; LLS, Leiden Longevity Study; MCC, multiple combined cohorts; NECS, New England Centenarian Study; UKB, UK Biobank. Other abbreviations: Sibs, number of siblings present in study; Rep, number of replication samples in stidy; Ped, pedigrees; M, found only in male subjects; F, found only in female subjects.

The respective MCC indicated:

a

Belfast Elderly Longitudinal Free-Living Aging Study, Calabria cohort, CEPH centenarian cohort, Chinese Longitudinal Healthy Longevity Surveys, Danish longevity study I and II, deCODE, Estonian Biobank, Genetics of Healthy Aging Study, German longevity study, Leiden 85-plus study, Newcastle 85 + Study, PROspective Study of Pravastatin in the Elderly at Risk, Rotterdam Study, TwinGene

b

New England Centenarian Study, 90PLUS Cohort.

c

Southern Italian Centenarian Study, Long Life Family Study, Longevity Gene Project, New England Centenarian Study. cSouthern Italian Centenarian Study, Long Life Family Study, Longevity Gene Project, New England Centenarian Study.

d

35 other variants were genome-wide significant; rs1051730 deemed most significant by the authors owing to its previous link to lower smoking and lung cancer risk.

If two genes are separated by dots the SNP is intergenic.

Parts of this Table were adapted from Hook et al. [109].