NOD2: Ethnic and geographic differences

Table 1 Allele frequencies for the NOD2 RAs in different ethnic groups

Ethnicity/population	Frequency (patient/control)	Frequency (patient/control)	Frequency (patient/control)	Other features	Reference
	R702W	G908R	L1007fs
Greek	0.1 (0.01)	0.14 (0.03)	0.18 (0.06)	EAO	[22]
Hungary	0.16 (0.08) over all 3 mutations				[23]
Israeli Arabs	0.04 ( 0.01) over all 3 mutations				[12]
Israeli Jewish	0.05	0.18	0.08	pediatric	[24]
Israeli Jewish	0.06	0.11	0.06	adult	[24]
USA Jewish	0.03 (0.05)	0.09 (0.03)	0.07 (0.02)		[6]
USA Caucasian	0.06 (0.05)	0.06 (0.01)	0.13 (0.02)	EAO	[5]
USA Hispanic	0 (0.03)	0 (0.01)	0.02 (0.004)	EAO	[5]
USA African American	0.08 (0.02)	0.0 (0)	0.008 (0.04)	EAO	[5]
Australia	0.11 (0.05)	0.02 (0.10)	0.07 (0.01)		[25]
New Zealand	0.03 (0.02)	0.07 (0.05)	0.08 (0.008)		[26]
South Africa coloured	0.06 (0.03)	ND (0.005)	0.01 (0.04)		[14]
Han Chinese	0 (0)	0 (0)	0 (0)		[13]

Table 2 Results of association analysis between NOD2 RAs and other inherited diseases

Disease	Linkage tochromosome16	Ethnicity	Association	Reference
Allergy and atopy	yes	German	yes1	[21]
Behcet’s disease	yes	UK, Turkish and Arab	no2	[27]
Breast cancer with lung cancer FDR3	no	Poland	yes	[18]
Idiopathic pulmonary fibrosis	unknown	Italian	no	[28]
Necrotising enteritis	unknown	France	no4	[29]
Psioratic arthritis	yes	Newfoundland	yes	[30]
Psioratic arthriris	yes	UK	no	[31]
Rheumatoid arthritis	no	USA	no5	[32]
Sarcoidosis	no	Danes	no	[33]
Sarcoidosis	no	United Kingdom	no	[34]
Spondyloarthropathy with chronic gut inflammation	no	Belgium	yes	[20]
Systemic lupus erythematosus	yes	Spain	no	[35]
Type 1 diabetes	yes	Scandinavia	no	[36]
Wegener's granulomatosis	no	North America	no	[37]

¹Both disease and protective associated haplotypes are described;

²Direct sequencing to identify polymorphisms failed to identify association by case-control;

³FDR first degree relative. The association reported occurs only in breast cancer patients who have a first degree relative with lung cancer but not in individuals without;

⁴All exons and exon/intron boundaries of NOD2 were sequenced;

⁵Genoyped for 3 common and a further 12 SNPs in NOD2 with no haplotype association observed.