Oxidative Medicine and Cellular Longevity

Review Article

Genomic Structure and Variation of Nuclear Factor (Erythroid-Derived 2)-Like 2

Table 4

Human NRF2 SNPs associated with disease risk.


ID	Map on chromosome 2 (HGVS name)	Region/class	Disease association and references	Risk alleles and statistics	Ethnic group (number of case)

rs7557529	g.178135097C>T	−5238G>A	Parkinson’s disease (2010 [26])	G = 0.718/252^‡ in haplotype OR = 0.90 or 0.40; CI = 0.60–1.40 or 0.3–0.6	Swedish/Polish Caucasian (357)

rs2886162	g.178133165A>G	−3306T>C	Breast cancer survival (2012 [27])	T/T = 0.324 OR = 1.687; CI = 1.105–2.75	Finland KBCP (452)

			Chronic gastritis, gastric ulcer (2007 [28])	G^‡ G^‡ in haplotype for ulcer (OR = 2.52; CI = 1.19–5.45)	Japanese (159)
			P14 methylation in gastric cancer H . pylori infection (2008 [29])	G in haplotype OR = 2.90; CI = 1.14–7.36	Japanese (209)
			Gastric cancer in H. pylori-negative cases (2008 [30])	A in haplotype	Japanese (209)
rs35652124 (rs57695243)	g.178130073T>C	−214A>G (previously −653 [23] or −686 [22])	Ulcerative colitis (2008 [31])	A/G (OR = 0.45; CI = 0.22–0.93) G (OR = 2.57; CI = 1.01–6.60)	Japanese (89)
			Lupus with nephritis in female (2010 [25])	G/A OR = 1.81; CI = 1.04–3.12	Mexican mestizo (362)
			Parkinson’s disease (2010 [26])	A = 0.884/312^‡ in haplotype OR = 0.9 or 0.4; CI = 0.60–1.40 or 0.30–0.60	Swedish/Polish Caucasian (357)
			COPD (2010 [32])	G = 0.52^‡ hazard ratio = 0.95; CI = 0.91–0.99 (Haplotype)	German (69)

			Gastric ulcer (2007 [28])	G^‡ in haplotype OR = 2.52; CI = 1.19–5.45	Japanese (159)
			P14 methylation in gastric cancer H. pylori infection (2008 [29])	G in haplotype OR = 2.90; CI = 1.14–7.36	Japanese (209)
			Gastric cancer in H. pylori -negative cases (2008 [30])	G in haplotype,	Japanese (209)
rs6706649	g.178130071C>T	−212G>A (previously −651 [23] or −684 [22])	Ulcerative colitis (2008 [31])	A/G (OR = 0.45; CI = 0.22–0.93) G (OR = 2.57; CI = 1.01–6.60)	Japanese (89)
			Maternal acetaminophen and asthma (2010 [33])	A = 0.232/1137^‡ OR = 1.73; CI = 1.22, 2.45	UK ALSPAC (>4000 mothers, >5000 children)
			COPD (2010 [32])	G = 0.98^‡ in haplotype hazard ratio = 0.95; CI = 0.91–0.99	German (69)
			Parkinson’s disease (2010 [26])	G = 0.972/343^‡ in haplotype OR = 0.9 or 0.4; CI = 0.60–1.40 or 0.3–0.6	Swedish/Polish Caucasian (357)

			Acute lung injury following trauma (2007 [23])	C/A = 0.119^‡ OR = 6.44; CI = 1.34–30.80	Caucasian/African-American (164)
			Annual FEV₁ decline (2011 [34])	A = 0.082 in haplotype	Japanese (915)
			Vitiligo (2008 [35])	C/A, A/A OR = 1.724; CI = 1.35–2.21	Chinese (300)
			COPD (2010 [32])	G = 0.73^‡ in haplotype hazard ratio = 0.95; CI = 0.91–0.99	German (69)
rs6721961 (rs117801448)	g.178130037T>C, T>G	−178A>G, A>C (previously −617 [23] or −650 [22])	Parkinson’s disease (2010 [26])	C = 0.980/346^‡ in haplotype OR = 0.9 or 0.4; CI = 0.60–1.40 or 0.30–0.60	Swedish/Polish Caucasian (357)
			Postmenopausal venous thromboembolism (2011 [36])	A = 0.333/11 OR = 2.5; CI = 3.70–85.70	Caucasian (161)
			Breast cancer survival and NRF2 protein expression (2012 [27])	A/A OR = 4.656; CI = 1.35–16.06	Finland KBCP (452)
			Acute lung injury-related mortality following systemic inflammatory response syndrome (2012 [37])	G/G OR = 9.73; CI = 1.27–74.80	Caucasian (750)
			Infection-induced asthma (2012 [38])	A/C OR = 0.437; CI = 0.28–0.80	Hungarian Caucasian/Gypsy (307)

rs143406266	g.178129391_178 129393delGGC	Exon 1 (467–469GCC)	COPD (2010 [32])	GCC₄ = 0.53^‡ hazard ratio = 0.95; CI = 0.91–0.99	Taiwanese (69)

rs2886161	g.178127839T>C*	Intron 1	Parkinson’s disease (2010 [26])	T = 0.878/309^‡ in haplotype OR = 0.9 or 0.4; CI = 0.6–1.4 or 0.3–0.6	Swedish/Polish Caucasian (357)

rs2364723	g.178126546G>C	Intron 1	Basal and smoker FEV₁ (2009 [39])	CI = −63.60~−17.80, C = 0.525^‡ Also as haplotype	Netherland (2542)

rs2364722	g.178124787A>G	Intron 1	Annual FEV₁ decline (2011 [34])	A = 0.082 in haplotype	Japanese (915)

rs13001694	g.178118990A>G	Intron 1	Basal and smoker FEV₁ (2009 [39])	G = 0.401/1578^‡ in haplotype	Netherland (2542)
			Breast cancer [40]	T with NQO1/NOS3/HO1 risk alleles: OR = 1.56; CI = 0.97–2.51	Caucasian and others (505)
rs1806649 (rs58745895)	g.178118152C>T	Intron 1	Basal and smoker FEV₁ (2009 [39])	T = 0.263/1119^‡ in haplotype CI = −87.30–(−1.70)	Netherland (2542)
rs1806649 (rs58745895)	g.178118152C>T	Intron 1	Parkinson’s disease (2010 [26])	T = 0.422/148^‡ in haplotype OR = 0.9 or 0.4; CI = 0.60–1.40 or 0.30–0.60	Swedish/Polish Caucasian (357)
			Particulate matter and asthma/COPD admission (2012 [41])	C with low vitamin C level (OR = 3.1; CI = 1.50–6.30)	UK (209)

rs4243387 (rs60038464)	g.178117765C>T	Intron 1	Basal and smoker FEV₁ (2009 [39])	T = 0.091/425^‡ in haplotype	Netherland (2542)

rs1962142 (rs58448508)	g.178113484A>G	Intron 1	Annual FEV₁ decline (2011 [34])	A = 0.082 in haplotype	Japanese (915)
rs1962142 (rs58448508)	g.178113484A>G	Intron 1	Breast cancer NRF2 and ARE expression (2012 [27])	A ()	Finland KBCP (452)

rs6726395 (rs57309289)	g.178103229A>G	Intron 1	Smoking-related FEV₁ decline and annual FEV₁ decline (2011 [34])	G = 0.884^‡ A = 0.082 in haplotype	Japanese (915)
rs6726395 (rs57309289)	g.178103229A>G	Intron 1	Basal and smoker FEV₁ (2009 [39])	G = 0.464/1764^‡ in haplotype	Netherland (2542)

rs2001350 (rs17515179, rs60883775)	g.178100425C>T	Intron 1	Annual FEV₁ decline (2011 [34])	T = 0.082 in haplotype	Japanese (915)
rs2001350 (rs17515179, rs60883775)	g.178100425C>T	Intron 1	Parkinson’s disease (2010 [26])	T = 0.986/350^‡ in haplotype OR = 0.9 or 0.4; CI = 0.60–1.40 or 0.30–0.60	Swedish/Polish Caucasian (357)

rs10183914 (rs58731187, rs61374844)	g.178097666C>T	Intron 3	Parkinson’s disease (2010 [26])	T = 0.536/188^‡ in haplotype OR = 0.9 or 0.4; CI = 0.60–1.40 or 0.30–0.60	Swedish/Polish Caucasian (357)

rs2706110	g.178092162T>C	3′Flanking	Breast cancer (2012 [27])	T/T OR = 2.079; CI = 1.18–3.68	Finland KBCP (452)

rs2588882	g.178087165G>T	3′Flanking	Infection-induced asthma (2012 [38])	T/G OR = 0.290; CI = 0.13–0.62	Hungarian Caucasian/Gypsy (307)

−686 in reference [22] = −653 in reference [23] = currently −214; −684 in reference [22] = −651 in reference [23] = currently −212; −651 in reference [22] = −617 in reference [23] = currently −178. Chromosome contig (intron, 3′flanking) or reversed (5′flanking promoter) alleles in bold have been used in the text and Table. OR: odds ratio. CI: 95% confidence interval.