Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update

Figures & data

Table 1 Estimated Pi*Z allele frequency (per 1,000), Pi*ZZ gene prevalence (1:x), and number of Pi*ZZ genotypes among 25 European countries

Geographic region (number of countries)	Country (total population)	Number of cohorts	Number of subjects	Pi*Z frequency (95% CI)	Pi*ZZ prevalence (mean)	Number of Pi*ZZ (95% CI)
Northern Europe (8)	Denmark (5,594,000)	2	10,096	27 (25–29)	1:1,368	4,090 (3,459–4,834)
	Estonia (1,258,545)	2	1,636	24 (19–30)	1:1,663	752 (481–1,170)
	Finland (5,498,211)	2	8,836	19 (17–21)	1:2,850	1,929 (1,553–2,394)
	Iceland (335,878)	1	94	0 (0–19)	1:infinite	0 (0–127)
	Latvia (1,965,686)	1	288	45 (30–66)	1:491	4,005 (1,802–8,648)
	Lithuania (2,854,235)	1	1,577	16 (12–21)	1:3,979	717 (405–1,261)
	Norway (5,265,158)	4	4,492	18 (16–21)	1:2,929	1,798 (1,321–2,442)
	Sweden (9,880,604)	11	5,750	15 (13–17)	1:4,368	2,262 (1,674–3,052)
Total/mean		24	32,769	20	2,041	15,553
Western Europe (7)	Belgium (11,409,077)	1	1,345	17 (12–22)	1:3,573	3,193 (1,745–5,787)
	France (66,836,154)	8	7,233	16 (14–18)	1:3,888	17,191 (13,255–22,270)
	England (53,012,456)	3	2,832	15 (12–18)	1:4,440	11,939 (7,729–18,360)
	The Netherlands (17,016,967)	4	1,466	18 (13–23)	1:3,179	5,353 (3,057–9,298)
	Northern Ireland (1,810,863)	1	1,000	20 (15–28)	1:2,380	761 (404–1,417)
	Republic of Ireland (4,757,976)	1	1,100	22 (16–29)	1:2,101	2,265 (1,264–4,019)
	Scotland (5,295,000)	3	2,543	8 (6–11)	1:15,388	344 (182–644)
Total/mean		21	17,519	17	1:4,992	41,046
Central Europe (4)	Austria (8,711,770)	1	868	13 (9–20)	1:5,697	1,529 (646–3,536)
	Germany (80,722,792)	5	2,691	16 (13–20)	1:3,916	20,611 (13,380–31,626)
	Poland (38,523,261)	5	3,201	13 (11–16)	1:5,673	6,791 (4,395–10,454)
	Switzerland (8,179,294)	1	1,148	11 (7–17)	1:7,798	972 (434–2,139)
Total/mean		12	7,908	13	5,771	29,903
Southern Europe (3)	Italy (62,007,540)	4	3,586	13 (11–16)	1:5,821	10,652 (7,046–16,049)
	Portugal (10,833,816)	4	1,498	21 (15–30)	1:2,191	4,944 (2,403–10,004)
	Spain (48,563,476)	4	2,458	17 (14–21)	1:3,344	14,522 (9,405–22,331)
Total/mean		12	7,542	17	3,785	30,118
Eastern Europe (3)	Macedonia (2,100,025)	4	441	8 (4–18)	1:14,814	142 (27–654)
	Russia (142,355,415)	16	8,364	3 (2–4)	1:86,127	1,653 (966–2,813)
	Serbia (7,143,921)	1	1,060	12 (8–19)	1:6,165	1,159 (525–2,510)
Total/mean		21	9,865	8	35,702	2,954
Total Pi*ZZ genotypes in Europe: 119,594

Abbreviation: CI, confidence interval.

Table 2 Estimated Pi*Z allele frequency (per 1,000), Pi*ZZ gene prevalence (Hardy–Weinberg statistics, 1:x), and number of Pi*ZZ genotypes in 23 North, South, and Central American countries

Geographic region (number of countries)	Country (total population)	Number of cohorts	Number of subjects	Pi*Z frequency (95% CI)	Pi*ZZ prevalence (mean)	Number of Pi*ZZ (95% CI)
North America (3)	Canada (35,362,905)	5	4,807	14 (12–16)	1:4,925	7,181 (5,109–10,072)
	aUS (non-Hispanic whites: 259,196,422)	15	17,032	15 (14–17)	1:4,126	62,820 (52,951–74,501)
	Mexico (123,166,749)	2	3,279	6 (4–8)	1:31,415	3,921 (2,002–7,599)
Total/mean		22	25,118	12	1:13,489	73,922
Central America and Caribbean (10)	Costa Rica (4,872,543)	1	3,000	8 (6–10)	1:17,013	286 (157–517)
	Cuba (11,179,995)	1	3,000	7 (5–9)	1:20,408	548 (292–1,018)
	Dominican Republic (10,606,865)	1	3,000	6 (4–9)	1:24,931	425 (219–817)
	El Salvador (6,156,670)	1	3,000	7 (5–9)	1:22,500	274 (144–517)
	Guatemala (15,189,958)	1	3,000	6 (4–8)	1:31,142	488 (242–973)
	Haiti (10,485,800)	1	3,000	1 (0.7–3)	1:444,444	24 (6–92)
	Honduras (8,893,259)	1	3,000	6 (4–9)	1:24,931	357 (184–685)
	Jamaica (2,970,340)	1	3,000	1 (0.7–3)	1:444,444	7 (2–26)
	Nicaragua (5,966,798)	1	3,000	6 (4–9)	1:24,931	239 (123–460)
	Panama (3,705,246)	1	3,000	6 (4–8)	1:27,778	133 (67–261)
Total/mean		10	30,000	5	1:108,252	2,781
South America (10)	Argentina (43,886,748)	1	3,000	6 (4–8)	1:26,297	1,669 (852–3,234)
	Bolivia (10,969,649)	1	3,000	6 (4–8)	1:30,298	305 (152–606)
	Brazil (205,823,665)	1	3,000	6 (4–8)	1:31,142	6,162 (3,053–12,297)
	Chile (17,650,114)	1	3,000	6 (4–9)	1:24,931	708 (365–1,360)
	Colombia (47,220,856)	1	3,000	6 (5–9)	1:23,669	1,995 (1,038–3,799)
	Ecuador (16,080,778)	1	3,000	6 (4–8)	1:27,778	579 (293–1,132)
	Paraguay (6,862,812)	1	3,000	7 (5–9)	1:22,500	305 (160–576)
	Peru (30,741,062)	1	3,000	6 (4–8)	1:29,388	1,046 (524–2,066)
	Uruguay (3,351,016)	1	3,000	6 (4–8)	1:27,778	121 (61–236)
	Venezuela (30,912,302)	1	3,000	8 (6–10)	1:16,287	1,897 (1,049–3,405)
Total/mean		10	30,000	6	1:26,002	14,787
Total Pi*ZZ genotypes in America: 91,490

Note:

a The numbers reported for the US refer only to the non-Hispanic white population, due to the lack of reliable studies in other ethnic groups.

Abbreviation: CI, confidence interval.

Table 3 Estimated Pi*Z allele frequency (per 1,000), Pi*ZZ gene prevalence (1:x), and number of Pi*ZZ genotypes in 10 African countries

Geographic region (number of countries)	Country (total population)	Number of cohorts	Number of subjects	Pi*Z frequency (95% CI)	Pi*ZZ prevalence (mean)	Number of Pi*ZZ (95% CI)
Africa (10)	Cameroon (24,360,803)	1	266	0 (0–7)	1:infinite	0 (0–1,163)
	Cabo Verde Islands (553,432)	1	202	2 (0–16)	1:163,216	3 (0–140)
	Democratic Republic of the Congo (81,331,050)	1	132	0 (0–14)	1:infinite	0 (0–15,659)
	Morocco (33,655,786)	1	439	1 (0–7)	1:770,884	44 (0–1,825)
	Mozambique (25,930,150)	1	274	0 (0–7)	1:infinite	0 (0–1,167)
	Nigeria (186,053,386)	3	564	3 (1–10)	1:79,524	2,340 (240–17,552)
	Republic of the Congo (4,852,412)	2	237	0 (0–8)	1:infinite	0 (0–292)
	Somalia (10,817,350)	1	347	11 (5–23)	1:7,526	1,437 (312–5,986)
	South Africa (54,300,704)	1	732	0 (0–2)	1:infinite	0 (0–344)
	Tunisia (10,937,521)	5	1,838	0 (0–2)	1:infinite	0 (0–11)
Total/mean		17	5,031	2	–	3,824

Abbreviation: CI, confidence interval.

Table 4 Estimated Pi*Z allele frequency (per 1,000), Pi*ZZ gene prevalence (1:x), and number of Pi*ZZ genotypes in 15 Asian countries

Geographic region (number of countries)	Country (total population)	Number of cohorts	Number of subjects	Pi*Z frequency (95% CI)	Pi*ZZ prevalence (mean)	Number of Pi*ZZ (95% CI)
Middle East (1)	Iran (82,801,633)	6	1,348	7 (4–11)	1:22,433	3,691 (1,381–9,579)
Central Asia (1)	Kazakhstan (18,360,353)	4	417	2 (0–9)	1:173,889	106 (3–1,700)
East and Southeast	China (1,373,541,278)	19	6,594	0 (0–0.3)	1:infinite	0 (0–107)
Asia (10)	Indonesia (258,316,051)	5	724	0 (0–2)	1:infinite	0 (0–1,672)
	Japan (126,702,133)	7	6,010	0 (0–6)	1:36,120,100	4 (0–57)
	Malaysia (30,949,962)	2	1,279	0 (0–1)	1:infinite	0 (0–64)
	Mongolia (3,031,330)	1	505	0 (0–4)	1:infinite	0 (0–40)
	Papua New Guinea (6,791,317)	2	337	0 (0–5)	1:infinite	0 (0–202)
	Philippines (102,624,209)	1	243	0 (0–7)	1:infinite	0 (0–5,868)
	Singapore (5,781,728)	2	545	0 (0–3)	1:infinite	0 (0–66)
	South Korea (50,924,172)	2	487	6 (2–14)	1:26,352	1,932 (320–10,082)
	Thailand (68,200,824)	2	852	11 (7–18)	1:8.043	8,479 (3,266–21,380)
Total/mean		43	17,576	2	–	10,415
South Asia (3)	Nepal (29,033,914)	1	144	0 (0–12)	1:infinite	0 (4,703)
	Pakistan (201,995,540)	1	269	9 (3–23)	1:11,578	17,447 (2,372–105,463)
	India (1,266,883,598)	11	1,599	0.6 (0.1–2)	1:2,556,801	495 (15–8,040)
Total/mean		13	2,012	3	–	17,942
Total Pi*ZZ genotypes in Asia: 32,154

Abbreviation: CI, confidence interval.

Table 5 Estimated Pi*Z allele frequency (per 1,000), Pi*ZZ gene prevalence (1:x), and number of Pi*ZZ genotypes in Australia and New Zealand

Geographic region	Country (total population)	Number of cohorts	Number of subjects	Pi*Z frequency (95% CI)	Pi*ZZ prevalence (mean)	Number of Pi*ZZ (95% CI)
Australia and New Zealand	Australia (22,992,654)	8	5,536	13 (11–16)	1:5,572	4,126 (2,894–5,695)
	New Zealand (4,474,549)	1	1,303	22 (17–29)	1:2,019	2,216 (1,307–3,731)
Total Pi*ZZ genotypes in Australia and New Zealand: 6,342

Abbreviation: CI, confidence interval.

Figure 1 Distribution of Pi*Z frequencies in Europe (×1,000).

Abbreviation: IDW, inverse distance weighted.

Figure 2 Distribution of Pi*Z frequencies in the world (×1,000).

Abbreviation: IDW, inverse distance weighted.

Figure 3 IDW-interpolation map of Pi*Z distribution worldwide.

Abbreviation: IDW, inverse distance weighted.