Ito 1999 1515. Ito E, Yanagisawa Y, Iwahashi Y, Suzuki Y, Nagasaki H, Akiyama Y, et al. A core promoter and a frequent single-nucleotide polymorphism of the mismatch repair gene hMLH1. BiochemBiophys Res Commun. 1999;256(3):488-494.
|
Japan (Asian) |
PB |
PCRSSCP |
27/84 |
8 |
10 |
9 |
26 |
28 |
22 |
46 |
16 |
90 |
78 |
0.464 |
0.355 |
Shin 2002 1616. Shin KH, Shin JH, Kim JH, Park JG. Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene. Cancer Res. 2002;62(1):38-42.
|
Korea (Asian) |
HB |
PCRSSCP |
139/157 |
33 |
61 |
45 |
127 |
151 |
42 |
74 |
41 |
158 |
156 |
0.496 |
0.472 |
Raptis 2007 1717. Raptis S, Mrkonjic M, Green RC, Pethe VV, Monga N, Chan YM, et al. MLH1 −93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. J Natl Cancer Inst. 2007;99(6):463-474.
|
Canada (Caucasian) |
PB |
TaqMan |
929/1098 |
554 |
331 |
44 |
1439 |
419 |
687 |
352 |
59 |
1726 |
470 |
0.214 |
0.118 |
Chen 2007 1818. Chen H, Taylor NP, Sotamaa KM, Mutch DG, Powell MA, Schmidt AP, et al. Evidence for heritable predisposition to epigenetic silencing of MLH1. Int J Cancer. 2007;120(8):1684-1688.
|
USA(Caucasian) |
NA |
Pyroseq |
99/286 |
44 |
47 |
8 |
135 |
63 |
169 |
99 |
18 |
437 |
135 |
0.236 |
0.497 |
Tulupova 2008 1919. Tulupova E, Kumar R, Hanova M, Slyskova J, Pardini B, Polakova V, et al. Do polymorphisms and haplotypes of mismatch repair genes modulate risk of sporadic colorectal cancer? Mutat Resch. 2008;648(1-2):40-45.
|
Czech (Caucasian) |
HB |
TaqMan |
619/611 |
359 |
216 |
44 |
934 |
304 |
365 |
209 |
37 |
939 |
283 |
0.231 |
0.336 |
Samowitz 2008 2020. Samowitz WS, Curtin K, Wolff RK, Albertsen H, Sweeney C, Caan BJ, et al. The MLH1 −93 G>A promoter polymorphism and genetic and epigenetic alterations in colon cancer. Genes Chromosomes Cancer. 2008; 47(10):835-844.
|
USA(Caucasian) |
PB |
DS |
1006/1963 |
610 |
344 |
52 |
1564 |
448 |
1170 |
688 |
105 |
3028 |
898 |
0.228 |
0.768 |
Koessler 2008 2121. Koessler T, Oestergaard MZ, Song H, Tyrer J, Perkins B, Dunning AM, et al. Common variants in mismatch repair genes and risk of colorectal cancer. Gut. 2008; 57(8):1097-1101.
|
UK(Caucasian) |
PB |
TaqMan |
2288/2276 |
1407 |
778 |
103 |
3592 |
984 |
1392 |
777 |
107 |
3561 |
991 |
0.217 |
0.914 |
Allan 2008 2222. Allan JM, Shorto J, Adlard J, Bury J, Coggins R, George R, et al. UK NCRI Colorectal Clinical Studies Group; Colorectal Cancer Study Group. MLH1 −93G>A promoter polymorphism and risk of mismatch repair deficient colorectal cancer. Int J Cancer. 2008;123(10):2456-9.
|
UK(Caucasian) |
NA |
PCR-RFLP |
1518/589 |
878 |
566 |
74 |
2322 |
714 |
369 |
196 |
24 |
934 |
244 |
0.207 |
0.750 |
Campbell 2009 2323. Campbell PT, Curtin K, Ulrich CM, Samowitz WS, Bigler J, Velicer CM, et al. Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut. 2009;58(5):661-667.
|
USA(Caucasian) |
PB |
PCR-RFLP |
1600/1963 |
952 |
553 |
95 |
2457 |
743 |
1170 |
688 |
105 |
3028 |
898 |
0.228 |
0.768 |
van Roon 2010 2424. van Roon EH, van Puijenbroek M, Middeldorp A, van Eijk R, de Meijer EJ, Erasmus D, et al. Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition? BMC Cancer. 2010;10:180.
|
Netherland(Caucasian) |
NA |
DS |
39/920 |
12 |
20 |
7 |
44 |
34 |
554 |
331 |
44 |
1425 |
415 |
0.225 |
0.542 |
Whiffin 2011 2525. Whiffin N, Broderick P, Lubbe SJ, Pittman AM, Penegar S, Chandler I, et al. MLH1-93G > A is a risk factor for MSI colorectal cancer. Carcinogenesis. 2011;32(8):1157-1161.
|
UK(Caucasian) |
PB |
KASPae |
10409/6965 |
6408 |
3504 |
497 |
16320 |
4498 |
4395 |
2261 |
309 |
11051 |
2879 |
0.206 |
0.401 |
Savio 2012 2626. Savio AJ, Lemire M, Mrkonjic M, Gallinger S, Zanke BW, Hudson TJ, et al. MLH1 region polymorphisms show a significant association with CpG island shore methylation in a large cohort of healthy individuals. PLoS One. 2012;7(12):e51531.
|
Canada (Caucasian) |
PB |
PCR-RFLP |
252/845 |
150 |
96 |
6 |
396 |
108 |
528 |
264 |
53 |
1320 |
370 |
0.218 |
0.011 |
Muniz-Mendoza 2012 2727. Muniz-Mendoza R, Ayala-Madrigal ML, Partida-Perez M, Peregrina-Sandoval J, Leal-Ugarte E, Macias-Gomez N, et al. MLH1 and XRCC1 polymorphisms in Mexican patients with colorectal cancer. Genet Mol Res. 2012; 11(3):2315-2320.
|
Mexico (Mixed) |
HB |
PCR-RFLP |
100/115 |
47 |
44 |
9 |
138 |
62 |
39 |
55 |
21 |
133 |
97 |
0.421 |
0.834 |
Nizam 2013 2828. Nizam ZM, Abdul Aziz AA, Kaur G, Abu Hassan MR, Mohd Sidek AS, Lee YY, et al. Contribution of the MLH1 −93G>a promoter polymorphism in modulating susceptibility risk in Malaysian colorectal cancer patients. Asian Pac J Cancer Prev. 2013;14(2):619-624.
|
Malaysia (Asian) |
HB |
PCR-RFLP |
104/104 |
22 |
50 |
32 |
94 |
114 |
33 |
33 |
38 |
99 |
109 |
0.524 |
0.520 |
Martinez-Uruena 2013 2929. Martinez-Uruena N, Macias L, Perez-Cabornero L, Infante M, Lastra E, Cruz JJ, et al. Incidence of −93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer. Colorectal Dis. 2013; 15(3):e118-123.
|
Spain (Caucasian) |
HB |
PCR-RFLP |
383/236 |
233 |
131 |
19 |
597 |
169 |
129 |
102 |
5 |
360 |
112 |
0.237 |
0.002 |
Djansugurova 2015 3030. Djansugurova L, Zhunussova G, Khussainova E, Iksan O, Afonin G, Kaidarova D, et al. Association of DCC, MLH1, GSTT1, GSTM1, and TP53 gene polymorphisms with colorectal cancer in Kazakhstan. Tumour Biol. 2015;36(1):279-289.
|
Kazakhstan (Asian) |
HB |
PCR-RFLP |
249/244 |
126 |
94 |
29 |
346 |
152 |
101 |
115 |
28 |
317 |
171 |
0.350 |
0.581 |
Li 2015 3131. Li G, Hu F, Yuan F, Fan J, Yu Z, Wu Z, et al. Intronic and promoter polymorphisms of hMLH1/hMSH2 and colorectal cancer risk in Heilongjiang Province of China. J Cancer Res Clin Oncol. 2015;141(8):1393-404.
|
China(Asian) |
NA |
PCR-RFLP |
451/629 |
88 |
198 |
165 |
374 |
528 |
218 |
301 |
110 |
737 |
521 |
0.414 |
0.728 |
Zhang 2016 3232. Zhang LL, Tang XJ, Wang XY, Zhu YW, Peng XB, Gong L. A promoter polymorphism in the hMLHl gene (-93G/A) associated with sporadic colorectal cancer. Oncol Lett. 2016; 12(5):4035-4040.
|
China(Asian) |
HB |
TaqMan |
312/300 |
66 |
139 |
107 |
271 |
353 |
52 |
154 |
94 |
258 |
342 |
0.570 |
0.413 |
Mik 2017 3333. Mik M, Dziki L, Malinowska K, Trzcinski R, Majsterek I, Dziki A. Polymorphism of MSH2 Gly322Asp and MLH1 −93G>A in non-familial colon cancer - a case-controlled study. Arch Med Sci. 2017;13(6):1295-1302.
|
Poland (Caucasian) |
NA |
PCR-RFLP |
144/151 |
74 |
45 |
25 |
193 |
95 |
53 |
61 |
37 |
167 |
135 |
0.447 |
0.024 |
655A>G(rs1799977) |
|
|
|
20668/19533 |
AA |
AG |
GG |
A |
G |
AA |
AG |
GG |
A |
G |
|
|
Kim 2004 3434. Kim JC, Roh SA, Koo KH, Ka IH, Kim HC, Yu CS, et al. Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients. Fam Cancer. 2004;3(2):129-137.
|
Korea (Asian) |
PB |
TaqMan |
107/330 |
100 |
7 |
0 |
207 |
7 |
311 |
18 |
1 |
640 |
20 |
0.030 |
0.191 |
Mei 2006 3535. Mei Q, Yan HL, Ding FX, Xue G, Huang JJ, Wang YZ, et al. Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients. Cancer Genet Cytogenet. 2006; 171(1):17-23.
|
China (Asian) |
HB |
PCR |
160/150 |
144 |
14 |
2 |
302 |
18 |
141 |
9 |
0 |
291 |
9 |
0.030 |
0.704 |
Raptis 2007 1717. Raptis S, Mrkonjic M, Green RC, Pethe VV, Monga N, Chan YM, et al. MLH1 −93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. J Natl Cancer Inst. 2007;99(6):463-474.
|
Canada (Caucasian) |
PB |
TaqMan |
929/1098 |
451 |
391 |
87 |
1293 |
565 |
514 |
485 |
99 |
1513 |
683 |
0.311 |
0.309 |
Berndt 2007 3636. Berndt SI, Platz EA, Fallin MD, Thuita LW, Hoffman SC, Helzlsouer KJ. Mismatch repair polymorphisms and the risk of colorectal cancer. Int J Cancer. 2007;120(7):1548-1554.
|
USA(Caucasian) |
PB |
TaqMan |
211/2090 |
100 |
94 |
17 |
294 |
128 |
968 |
896 |
226 |
2832 |
1348 |
0.322 |
0.386 |
Christensen 2008 3737. Christensen LL, Madsen BE, Wikman FP, Wiuf C, Koed K, Tjonneland A, et al. The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. BMC Med Genet. 2008;9:52.
|
Denmark(Caucasian) |
PB |
SBE-tags |
380/770 |
172 |
170 |
38 |
514 |
246 |
364 |
327 |
79 |
1055 |
485 |
0.314 |
0.660 |
Nejda 2009 3838. Nejda N, Iglesias D, Moreno Azcoita M, Medina Arana V, Gonzalez-Aguilera JJ, et al. A MLH1 polymorphism that increases cancer risk is associated with better outcome in sporadic colorectal cancer. Cancer Genet Cytogenet. 2009;193(2):71-77.
|
Spain (Caucasian) |
HB |
PCR-RFLP |
140/125 |
41 |
72 |
27 |
154 |
126 |
64 |
44 |
17 |
172 |
78 |
0.312 |
0.044 |
Campbell 2009 2323. Campbell PT, Curtin K, Ulrich CM, Samowitz WS, Bigler J, Velicer CM, et al. Mismatch repair polymorphisms and risk of colon cancer, tumour microsatellite instability and interactions with lifestyle factors. Gut. 2009;58(5):661-667.
|
USA(Caucasian) |
PB |
PCR-RFLP |
1601/1944 |
764 |
678 |
159 |
2206 |
996 |
937 |
848 |
159 |
2722 |
1166 |
0.299 |
0.087 |
Picelli 2010 3939. Picelli S, Zajac P, Zhou XL, Edler D, Lenander C, Dalen J, et al. Common variants in human CRC genes as low-risk alleles. Eur J Cancer. 2010;46(6):1041-1048.
|
Sweden (Caucasian) |
PB |
DS |
1781/1701 |
819 |
781 |
181 |
2419 |
114 |
832 |
708 |
161 |
2372 |
1030 |
0.302 |
0.636 |
Muniz-Mendoza 2012 2727. Muniz-Mendoza R, Ayala-Madrigal ML, Partida-Perez M, Peregrina-Sandoval J, Leal-Ugarte E, Macias-Gomez N, et al. MLH1 and XRCC1 polymorphisms in Mexican patients with colorectal cancer. Genet Mol Res. 2012; 11(3):2315-2320.
|
Mexico (Mixed) |
HB |
PCR-RFLP |
102/100 |
71 |
26 |
5 |
168 |
36 |
81 |
19 |
0 |
181 |
19 |
0.095 |
0.293 |
Milanizadeh 2013 4040. Milanizadeh S, Khanyaghma M, Haghighi MM, Mohebbi S, Damavand B, Almasi S, et al. Molecular analysis of imperative polymorphisms of MLH1 gene in sporadic colorectal cancer. Cancer Biomark. 2013;13(6):427-432.
|
Iran (Asian) |
HB |
PCR-RFLP |
219/248 |
25 |
62 |
132 |
112 |
326 |
248 |
54 |
119 |
227 |
269 |
0.346 |
≤0.001 |
Peng 2016 4141. Peng HX, Xu X, Yang R, Chu YM, Yang DM, Xu Y, et al.Molecular analysis of MLH1 variants in Chinese sporadic colorectal cancer patients. Genet Mol Res. 2016;15(2).
|
China (Asian) |
PB |
PCR-HRM |
156/311 |
151 |
5 |
0 |
151 |
5 |
307 |
4 |
0 |
618 |
4 |
0.006 |
0.909 |
1151T>A(rs63750447) |
|
|
|
5786/8867 |
TT |
AT |
AA |
T |
A |
TT |
AT |
AA |
T |
A |
|
|
Wang 1998 4242. Wang Y, Friedl W, Propping P, Li J, Li Z, Wang J. Val384Asp in hMLH1 gene in Chinese, Japanese and German and its etiological role in colorectal cancer. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998;15(5):263-6.
|
China (Asian) |
NA |
PCRSSCP |
26/80 |
22 |
4 |
0 |
48 |
4 |
77 |
3 |
0 |
157 |
3 |
0.018 |
0.864 |
Wang 2000 4343. Wang Y, Zhou J, Li Z, Wang J, Li J, Gao C, et al. One of the etiological factors of digestive tract cancers in Chinese: the missense mutation Val- 384Asp in the hMLH1 gene. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000;17(2):82-86.
|
China (Asian) |
HB |
PCRSSCP |
101/100 |
88 |
13 |
0 |
189 |
13 |
94 |
6 |
0 |
194 |
6 |
0.030 |
0.757 |
Kim 2004 3434. Kim JC, Roh SA, Koo KH, Ka IH, Kim HC, Yu CS, et al. Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients. Fam Cancer. 2004;3(2):129-137.
|
Korea (Asian) |
PB |
TaqMan |
107/330 |
100 |
7 |
0 |
207 |
7 |
313 |
17 |
0 |
643 |
17 |
0.025 |
0.631 |
Zhang 2005 4444. Zhang XM, Li JT, Zhu M, Wu XL, Gao P, Zhou P, et al. Study on the relationship between genetic polymorphism Val384Asp in hMLH1 gene and the risk of four different carcinomas. [Article in Chinese]. Zhonghua Liu Xing Bing Xue Za Zhi. 2004;25(11):978-981.
|
China (Asian) |
PB |
DHPLC |
90/268 |
82 |
8 |
0 |
172 |
8 |
251 |
17 |
0 |
519 |
17 |
0.031 |
0.591 |
Mei 2006 3535. Mei Q, Yan HL, Ding FX, Xue G, Huang JJ, Wang YZ, et al. Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients. Cancer Genet Cytogenet. 2006; 171(1):17-23.
|
China (Asian) |
HB |
PCR |
160/150 |
142 |
18 |
0 |
302 |
18 |
141 |
9 |
0 |
291 |
9 |
0.030 |
0.474 |
Ohsawa 2009 4545. Ohsawa T, Sahara T, Muramatsu S, Nishimura Y, Yathuoka T, Tanaka Y, et al. Colorectal cancer susceptibility associated with the hMLH1 V384D variant. Mol Med Rep. 2009;2(6):887-891.
|
Japan (Asian) |
NA |
PCR-RFLP |
670/332 |
630 |
39 |
1 |
1299 |
41 |
327 |
5 |
0 |
659 |
5 |
0.007 |
0.890 |
Wang 2010 4646. Wang D, Song L, Zhang X. Etiological role of Val384Asp in hMLH1 gene in familial colorectal cancer. Acta Univ Med Nanjing. 2010; 1:1-6.
|
China (Asian) |
NA |
DHPLC |
99/66 |
83 |
16 |
0 |
182 |
16 |
63 |
3 |
0 |
129 |
3 |
0.022 |
0.850 |
Peng 2016 4141. Peng HX, Xu X, Yang R, Chu YM, Yang DM, Xu Y, et al.Molecular analysis of MLH1 variants in Chinese sporadic colorectal cancer patients. Genet Mol Res. 2016;15(2).
|
China (Asian) |
PB |
PCR-HRM |
156/311 |
142 |
13 |
1 |
297 |
15 |
310 |
1 |
0 |
621 |
1 |
0.001 |
0.977 |