Three allele combinations associated with Multiple Sclerosis

BMC Medical Genetics

Table 1 Polymorphous loci at or near genes of immune response included in the database

Gene/marker	Chromosome localization	Polymorphism type* [refSNP ID]**	Names of alleles considered	Method of analysis (the restriction endonuclease used)	Numbers of genotyped MS patients/controls
DRB1	6p21	Allele groups corresponding to serological specificities DR1-DR18(3)	01–18(3) [44]	PCR-SSP	229/314
Microsatellite TNFa	6p21	(AC)_n	a1-a13[23]	Nested PCR	121/103
Microsatellite TNFb	6p21	(TC)_n	b1-b7[23]	Nested PCR	120/96
		SNP -376A→G [rs1800750]	A, G	PCR-SSP	202/146
TNF	6p21	SNP -308G→A [rs1800629]	A1, A2	PCR-SSP	223/222
		SNP -238A→G [rs361525]	B1, B2	PCR-RFLP (BamHI)	165/112
LT	6p21	SNP +252G→A	N1, N2	PCR-RFLP (NcoI)	205/150
		SNP +319C→G	H1, H2	PCR-RFLP (AspHI)	202/147
		SNP -509C→T [rs17551290]	C, T	PCR-SSO	119/295
		SNP +72 wild type→C insertion	wt, ins		198/340
TGFβ1	19q13	SNP +869T→C (10Leu→Pro)	T, C		150/248
		SNP +915G→C (25Arg→Pro)	G, C		157/248
		SNP +1632C→T (263Thr→Ile)	C, T		178/109
CCR5	3p21	Wild type→32 base pair deletion	wt, Δ 32	PCR	221/355
CTLA4	2q33	SNP +49A→G (17Thr→Ala) [rs231775]	A, G	PCR-RFLP (BstEII)	168/209

Abbreviations used: CCR5 – CC chemokine receptor 5 gene; CTLA4 – cytotoxic T-lymphocyte-associated protein 4 gene; DRB1 – major histocompatibility complex class II DR β-chain gene 1; LT – lymphotoxin α gene; TGFβ1 – transforming growth factor β-1 gene; TNF – tumor necrosis factor gene; PCR – polymerase chain reaction; RFLP – restriction fragment length polymorphism; SSO – sequence-specific oligonucleotides; SSP – sequence-specific primers; ins – insertion; wt – wild type.
* All positions of the SNPs are indicated relative to transcriptional start sites except CTLA4 SNP +49, where +49 is the position from translational start site.
** RefSNP IDs (rs#) are given for SNPs submitted in PubMed NCBI dbSNP.

ISSN: 1471-2350