Additional file 1: Summary description of the 41 samples included in the worldwide genotyping survey
Pop.
a
Code
Sampling
location
Population
(No. of individuals)
Description
No. of
screened
variants
Nhb
Hc
sub-Saharan Africans (452)
1
Tswana (101)1
South Africa
Tswana-speaking people from the North-West Province. They were all healthy volunteers and were part of
Transition and Health during Urbanization of South Africans (THUSA) study.
7
12
0.8589
2
Ateke Bantus (50)2
Gabon
Healthy donors
7
12
0.8091
3
Bakola Pygmies (40)2
Cameroon
Healthy donors
7
7
0.7108
4
Baka Pygmies (30)2
Cameroon
Healthy donors
7
8
0.8237
Nigeria
Samples collected in a particular community in Ibadan, from individuals who identified themselves as having
four Yoruba grandparents (HapMap sample).
6
7
0.8314
Senegal
Healthy unrelated individuals from the Niohkolo Mandenka population.
7
11
0.8168
Mali
Unrelated healthy non-caste Dogons collected in 6 villages in the district of Sangha, Republic of Mali.
7
12
0.8228
Somalia
Healthy donors
7
6
0.7066
Morocco
Healthy donors
7
6
0.6583
3
5
Yoruba (60)
6
Mandenka (97)4
5
7
Dogons (50)
8
2
Somali (24)
d
North Africans (44)
9
Moroccans (44)2
Europeans (3,570)
10
Spanish (258)6
Spain
Healthy, unrelated white Spanish volunteers. All subjects were in good health and with no antecedent of
disease. Most subjects were medical students from Extremadura (Badajoz, Spain) and the surrounding area.
7
8
0.6541
11
Sardinians (49)2
Sardinia
Healthy donors
7
5
0.6230
France
Unrelated, healthy French Caucasians.
7
7
0.7027
12
French (60)
5
13
French-Canadians (291)
14
UK Caucasians (112)1
15
US Caucasians (387)
8
16
17
7
e
Canada
Healthy controls randomly selected from a large institutional DNA bank. They were all of French origin and
resided in the Province of Quebec, Canada.
5
7
0.6759
United Kingdom
Healthy volunteers from the Cambridge area.
7
9
0.6883
United States
Non-cancer women of European origin residents of Iowa, from a nested case-control study of the Iowa
Women's Health Study.
7
9
0.7013
US Caucasians (60)3
United States
Samples collected from people living in Utah with ancestry from northern and western Europe (HapMap
sample).
6d
7
0.7265
Swedes (50)2
Sweden
Healthy donors
7
6
0.6612
2
18
Saami (48)
Finland
Healthy donors
7
5
0.7149
19
Germans (844)9
Germany
Unrelated subjects of German origin from Berlin. They include healthy volunteers (291) and hospitalized
individuals (553) with various diseases but without known malignancy.
7
8
0.7208
20
Germans (223)10
Germany
Healthy students and blood donors of the St. Jürgen Hospital (Bremen), from the northern part of Germany.
6f
8
0.7438
Additional file 1 (Continued)
Pop.
a
Code
Sampling
location
Population
(No. of individuals)
Description
No. of
screened
variants
Nhb
Hc
21
Polish (248)11
Poland
Unrelated children and adolescents of Polish origin. They were randomly selected from patients from the
Wielkopolska region who had come to the Third Clinic of Children’s Diseases of the University School of
Medicine in Poznan because of ordinary respiratory or urinary tract infections or during a routine control visit
to the outpatient clinic. Patients with autoimmune disease or malignancy were excluded.
7
7
0.7461
22
Slovaks (167)12
Slovakia
Healthy blood donors and patients over 65 years with rheumatological or cardiovascular diseases, at the
Teaching Hospital Košice. They were all Slovak people from the general population of Eastern Slovakia.
5e
6
0.7386
23
Ashkenazi Jews (40)2
Healthy donors
7
4
0.6006
0.7157
24
Romanians (140)
25
Russians (290)
14
26
Turks (303)15
13
-
f
Romania
Unrelated individuals from a Romanian population.
6
7
Russia
Unrelated individuals from the European part of Russia (Voronezh region). Except for 71 healthy volunteers,
subjects were outpatients of the Central Railway Clinic in Voronezh with non-malignant diseases.
7
7
0.7102
Turkey
Unrelated Turkisk individuals from south-east Anatolia (born and living in Gaziantep and surrounding). Except
for 18 healthy volunteers, all were outpatients of the Gaziantep University, Faculty of Medicine, with a broad
range of non-malignant diseases.
7
7
0.7231
Central/South Asians (390)
27
Gujarati (50)2
India
Healthy donors
7
8
0.7149
28
Turkmen (50)
2
Uzbekistan
Healthy donors
7
6
0.7531
29
Kyrgyz (290)13
Kyrgyzstan
Unrelated individuals living at Lake Issyk-Kul near China.
6f
8
0.7318
China
Healthy Han Chinese from a farmer population in a remote rural area in Shanghai suburb.
7
6
0.5839
China
Samples collected from individuals living in the residential community at Beijing Normal University who were
self-identified as having at least three out of four Han Chinese grandparents (HapMap sample).
6
4
0.5735
East Asians (1,893)
30
Han Chinese (112)16
31
Han Chinese (45)
32
Chinese (44)2
3
d
China
Healthy donors from the Hunan and Zhejang regions.
7
5
0.6450
33
Japanese (144)
17
Japan
Patients with rheumatoid arthritis randomly selected from the outpatient department of the Institute of
Rheumatology, Tokyo Women’s Medical University, between 1992 and 1999. g
7
6
0.4376
34
Japanese (172)18
Japan
Unrelated, ethnically Japanese women used as population controls. Those with non-Japanese ethnic parents
were excluded.
6f
6
0.4823
Additional file 1 (Continued)
Pop.
a
Code
Sampling
location
Population
(No. of individuals)
Description
No. of
screened
variants
Nhb
Hc
35
Japanese (44)3
Japan
Samples collected in the Tokyo metropolitan area from people who came from (or whose ancestors came
from) many different parts of Japan (HapMap sample).
6d
4
0.4846
36
Koreans (288)19
Korea
Non-cancer women controls admitted to the department of surgery in three teaching hospitals located in
Seoul from March 1994 to September 1999.
7
11
0.5599
37
Koreans (1,000)20
Korea
Korean individuals who visited the health promotion center at Samsung Medical Center.
6f
11
0.5140
Thailand
Healthy donors
7
5
0.7213
Panama
Healthy volunteers, unrelated to the fourth degree of consanguinity, living in traditional Amerindian regions of
Panama. Excluded from the samples were those subjects who did not speak an Amerindian language,
presented any non-Amerindian physical characteristic, were not born in Amerindian regions, or whose parents
did not meet these criteria.
6f
6
0.5672
Panama
same description as Embera
6f
5
0.4229
Nicaragua
Healthy, unrelated subjects from a mixed Nicaraguan population. Most of them were students and staff of the
Universidad Nacional Autónoma de Nicaragua (León, Nicaragua). Only subjects with Central American Indianwhite mixed origin were included. All were in good health with had no history of serious disease.
7
11
0.7007
38
Thai (44)
2
Central Americans (378)
39
Embera (136)21
40
Ngawbe (105)21
41
a
Nicaraguans (137)
22
Population code number
Number of inferred haplotypes in the sample
c
Haplotype diversity
d
C282T missing
e
G191A and C282T missing
f
G191A missing
g
The frequencies of NAT2 haplotypes determined in this study on patients with rheumatoid arthritis were similar to those determined in Japanese
controls
b
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