• Title/Summary/Keyword: Hardy-Weinberg equilibrium

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Evaluation of Genetic Diversity and Population Structure Analysis among Germplasm of Agaricus bisporus by SSR Markers

  • An, Hyejin;Lee, Hwa-Yong;Shin, Hyeran;Bang, Jun Hyoung;Han, Seahee;Oh, Youn-Lee;Jang, Kab-Yeul;Cho, Hyunwoo;Hyun, Tae Kyung;Sung, Jwakyung;So, Yoon-Sup;Jo, Ick-Hyun;Chung, Jong-Wook
    • Mycobiology
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    • v.49 no.4
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    • pp.376-384
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    • 2021
  • Agaricus bisporus is a popular edible mushroom that is cultivated worldwide. Due to its secondary homothallic nature, cultivated A. bisporus strains have low genetic diversity, and breeding novel strains is challenging. The aim of this study was to investigate the genetic diversity and population structure of globally collected A. bisporus strains using simple sequence repeat (SSR) markers. Agaricus bisporus strains were divided based on genetic distance-based groups and model-based subpopulations. The major allele frequency (MAF), number of genotypes (NG), number of alleles (NA), observed heterozygosity (HO), expected heterozygosity (HE), and polymorphic information content (PIC) were calculated, and genetic distance, population structure, genetic differentiation, and Hardy-Weinberg equilibrium (HWE) were assessed. Strains were divided into two groups by distance-based analysis and into three subpopulations by model-based analysis. Strains in subpopulations POP A and POP B were included in Group I, and strains in subpopulation POP C were included in Group II. Genetic differentiation between strains was 99%. Marker AB-gSSR-1057 in Group II and subpopulation POP C was confirmed to be in HWE. These results will enhance A. bisporus breeding programs and support the protection of genetic resources.

Genetic assessment of BoLA-DRB3 polymorphisms by comparing Bangladesh, Ethiopian, and Korean cattle

  • Mandefro, Ayele;Sisay, Tesfaye;Edea, Zewdu;Uzzaman, Md. Rasel;Kim, Kwan-Suk;Dadi, Hailu
    • Journal of Animal Science and Technology
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    • v.63 no.2
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    • pp.248-261
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    • 2021
  • Attributable to their major function in pathogen recognition, the use of bovine leukocyte antigens (BoLA) as disease markers in immunological traits in cattle is well established. However, limited report exists on polymorphism of the BoLA gene in zebu cattle breeds by high resolution typing methods. Thus, we used a polymerase chain reaction sequence-based typing (PCR-SBT) method to sequence exon 2 of the BoLA class II DRB3 gene from 100 animals (Boran, n = 13; Sheko, n = 20; Fogera, n = 16; Horro, n = 19), Hanwoo cattle (n = 18) and Bangladesh Red Chittagong zebu (n = 14). Out of the 59 detected alleles, 43 were already deposited under the Immuno Polymorphism Database for major histocompatibility complex (IPD-MHC) while 16 were unique to this study. Assessment of the level of genetic variability at the population and sequence levels with genetic distance in the breeds considered in this study showed that Zebu breeds had a gene diversity score greater than 0.752, nucleotide diversity score greater than 0.152, and mean number of pairwise differences higher than 14, being very comparable to those investigated for other cattle breeds. Regarding neutrality tests analyzed, we investigated that all the breeds except Hanwoo had an excess number of alleles and could be expected from a recent population expansion or genetic hitchhiking. Howbeit, the observed heterozygosity was not significantly (p < 0.05) higher than the expected heterozygosity. The Hardy Weinberg equilibrium (HWE) analysis revealed non-significant excess of heterozygote animals, indicative of plausible over-dominant selection. The pairwise FST values suggested a low genetic variation among all the breeds (FST = 0.056; p < 0.05), besides the rooting from the evolutionary or domestication history of the cattle. No detached clade was observed in the evolutionary divergence study of the BoLA-DRB3 gene, inferred from the phylogenetic tree based on the maximum likelihood model. The investigation herein indicated the clear differences in BoLA-DRB3 gene variability between African and Asian cattle breeds.

Relationship between angiotensin-converting enzyme gene polymorphism and muscle damage parameters after eccentric exercise

  • Kim, Jooyoung;Kim, Chang-Sun;Lee, Joohyung
    • Korean Journal of Exercise Nutrition
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    • v.17 no.2
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    • pp.25-34
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    • 2013
  • This study was conducted to investigate the relationship between ACE gene polymorphism and muscle damage parameters after eccentric exercise. 80 collegiate males were instructed to take an eccentric exercise with the elbow flexor muscle through the modified preacher curl machine for 2 sets of 25 cycles (total 50 cycles). The maximal isometric strength, muscle soreness, creatine kinase (CK), and myoglobin (Mb) were measured before exercise, and 0, 24, 48, 72, and 96 hrs after exercise. The result showed that after the eccentric exercise, the maximal isometric strength significantly decreased by more than 50% (p < 0.001) and the muscle soreness, CK, and Mb significantly increased compared to those before the exercise (p < 0.001). The ACE gene polymorphism of the subjects was classified using real-time polymerase chain reaction (real-time PCR). The result showed that it consisted of 38 cases of type II (46.4%), 33 cases of type ID (43.4%), and 9 cases of type DD (10.2%). The Hardy-Weinberg equilibrium for ACE gene polymorphism was shown to have p = 0.653, which showed that each allele was evenly distributed. Although significant differences in the changes in the maximal isometric strength, muscle soreness, CK, and Mb were found according to time course (p < 0.001), no significant differences in the changes in the maximal isometric strength, muscle soreness, CK, and Mb were found according to ACE gene polymorphism. Furthermore, no significant difference in the changes in the muscle damage parameters was found according to interaction between ACE gene polymorphism and time course (p > 0.05). In conclusion, the level of the muscle damage parameters changed in the injured muscle after eccentric exercise, but these changes in the muscle damage parameters were not affected by ACE gene polymorphism. The result of this study indicates that ACE gene is not a candidate gene that explains muscle damage.

Yield Reductions in the $F_2$ and $F_3$ Generations of Highly Promising Varietal Crosses of Corn (유망시되는 옥수수 품종간교잡의 $F_2$$F_3$에 있어서의 수량감소)

  • Chea-Yu Cho;R.M. Lantican
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.14
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    • pp.123-131
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    • 1973
  • 1. In order to evaluate the performance of the $F_2$ and $F_3$ generations of $F_1$ varietal crosses which in past trials yielded better than or as high as the recommended double-cross hybrids, eleven yellow and five white-endosperm $F_1$ varietal crosses, their $F_2$ and $F_3$ generations, and the parental open-pollinated varieties together with the standard double-cross hybrids were tested in performance trials in the 1963 wet and 1963-64 dry seasons. The former trials, however, failed due to a strong typhoon that damaged the crop. 2. Net hybrid vigor was highly manifested in grain yield in the $F_1$ varietal crosses, which on the average was 39.9 per cent of the mid-parent yields. Reduction in heterosis was 27.2 per cent in the $F_2$and 30.3 per cent in the $F_3$ generation, respectively. 3. A fairly high degree of reduction in yield occurred in the $F_2$ and $F_3$ generation. On the average, the $F_2$ generation decreased by 17.6 per cent and the $F_3$ by 20.7 per cent. The losses in two generations were exhibited in two levels; four crosses decreased by 10.9 per cent and twelve combinations by 22.0 per cent. The advanced generations of one yellow cross, Cuban Yellow Flint ${\times}$ Hawaiian Flinty Dent, and three white flint crosses, Bicol White Flint ${\times}$ Eto Blanco, College White Flint ${\times}$ Eto Blanco and Bicol White Flint ${\times}$ Nariono 330b, yielded as high as Philippine Hybrid No.1 and Philippine Hybrid No.4, respectively. 4. No significant differences in yield were obtained between the $F_2$ and $F_3$ populations, showing that genetic equilibrium was reached in $F_2$, as may be expected in view of the Hardy-Weinberg law on panmixis. 5. As in past trials, Hawaiian Flinty Dent, a variety, yielded as high as Philippine Hybrid No. 1.

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An Updated Meta-analysis on the Association of X-Ray Repair Cross Complementing Group 1 Codon 399 Polymorphism with Hepatocellular Carcinoma Risk

  • Wang, Ya-Dong;Zhai, Wen-Long;Wang, Hai-Yu;Xia, Xiang-Qun
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.11
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    • pp.4443-4448
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    • 2014
  • Background: A number of studies have reported the association of X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln polymorphism with susceptibility to hepatocellular carcinoma (HCC). However, the results were inconsistent and inconclusive. The aim of this study was to comprehensively explore the association of XRCC1 Arg399Gln variant with HCC risk. Materials and Methods: Systematic searches of PubMed, Elsevier, Science Direct, CNKI and Chinese Biomedical Literature Database were performed. Pooled odds ratio (OR) with 95% confidence intervals (CI) was calculated to estimate the strength of association. Results: Overall, we observed an increased HCC risk among subjects carrying XRCC1 codon 399 Gln/Gln, Arg/Gln and Gln/Gln+Arg/Gln genotypes (OR=1.20, 95%CI: 1.05-1.38, OR=1.16, 95%CI: 1.05-1.28, and OR=1.14, 95%CI: 1.04-1.24, respectively) based on 20 studies including 3374 cases and 4633 controls. In subgroup analysis, we observed an increased risk of XRCC1 codon 399 Gln/Gln, Arg/Gln and Gln/Gln+Arg/Gln polymorphisms for HCC in hospital-based study (OR=1.25, 95%CI: 1.03-1.51, OR=1.21, 95%CI: 1.07-1.36 and OR=1.18, 95%CI: 1.06-1.31, respectively) and in Asian population (OR=1.19, 95%CI: 1.03-1.38, OR=1.17, 95%CI: 1.04-1.30 and OR=1.14, 95%CI: 1.04-1.25, respectively). Limiting the analysis to the studies with controls in agreement with Hardy-Weinberg equilibrium (HWE), we observed an increased HCC risk among Gln/Gln, Arg/Gln and Gln/ Gln+Arg/Gln genotype carriers (OR=1.17, 95%CI: 1.05-1.29, OR=1.12, 95%CI: 1.00-1.25 and OR=1.11, 95%CI: 1.02-1.21, respectively). Conclusions: This updated meta-analysis results suggest that XRCC1 Arg399Gln variants may contribute to HCC risk. Well-designed studies with larger sample size were required to further verify our findings.

A Promoter SNP (rs1800682, -670C/T) of FAS Is Associated with Stroke in a Korean Population

  • Kang, Sung-Wook;Chung, Joo-Ho;Kim, Dong-Hwan;Yun, Dong-Hwan;Yoo, Seung-Don;Kim, Hee-Sang;Seo, Wan;Yoon, Jee-Sang;Baik, Hyung-Hwan
    • Genomics & Informatics
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    • v.8 no.4
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    • pp.206-211
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    • 2010
  • The Fas (TNF receptor superfamily, member 6) (FAS)/FAS ligand (FASLG) interaction plays a central role in the regulation of programmed cell death. FAS and FASLG polymorphisms in promoter regions affect transcriptional activities. To investigate whether FAS and FASLG polymorphisms are associated with the development and clinical phenotypes of stroke, 2 promoter single nucleotide polymorphisms (SNPs) in FAS (rs1800682, -670C/T) and FASLG (rs763110, -844C/T) were selected and genotyped by direct sequencing in 220 stroke patients [107 ischemic stroke (IS), 77 intracerebral hemorrhage (ICH), and 36 subarachnoid hemorrhage (SAH)] and 369 control subjects. For the analysis of clinical symptoms, all stroke patients were divided into 3 clinical phenotypes according to the respective results of the National Institutes of Health Stroke Survey (NIHSS) and the Modified Barthel Index (MBI) and the presence or absence of complex regional pain syndrome (CRPS). The SNPStats, SNPAnalyzer, and Helixtree programs were used to analyze the genetic data. Multiple logistic regression models (codominant, dominant, and recessive) were used to estimate odds ratios (ORs), 95% confidence intervals (CIs), and p-values. The promoter SNP rs1800682 was associated with stroke in the codominant (OR=0.48, 95% CI=0.25-0.94, p=0.04) and dominant models (OR=0.51, 95% CI=0.30-0.87, p=0.011). However, a FASLG SNP (rs763110) was not in Hardy-Weinberg equilibrium (p<0.05). In the analysis of stroke types, rs1800682 was associated with IS in the codominant (OR=0.30, 95% CI=0.12-0.74, p=0.025), dominant (OR=0.44, 95% CI=0.23-0.88, p=0.018), and recessive models (OR=0.45, 95% CI=0.21-0.99, p=0.042). The genotype frequencies of rs1800682 were different between ICH and controls in the dominant model (OR=0.49, 95% CI=0.26-0.94, p=0.031) but not between SAH and controls. In the analysis of clinical symptoms, however, rs1800682 was not related to the 3 clinical phenotypes (NIHSS, MBI, and CRPS). These results suggest that a promoter SNP (rs1800682, -670C/T) in FAS may be associated with the development of stroke in the Korean population.

Genetic Diversity and Genetic Structure of Acer pseudosieboldianum Populations in South Korea Based on AFLP Markers (AFLP 마커를 이용한 당단풍나무 집단의 유전다양성과 유전구조)

  • Ahn, Jiyoung;Hong, Kyung-Nak;Baek, Seung-Hoon;Lee, Min-Woo;Lim, Hyo-In;Lee, Jei-Wan
    • Journal of Korean Society of Forest Science
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    • v.105 no.4
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    • pp.414-421
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    • 2016
  • Fourteen Acer pseudosieboldianum populations in South Korea were used to estimate genetic diversity, genetic differentiation and genetic relationships using seven AFLP primer combinations. The average of effective alleles ($A_e$), the proportion of polymorphic loci (%P) and Shannon's diversity index (I) was 1.4, 82.2% and 0.358, respectively. The expected heterozygosity ($H_e$) under Hardy-Weinberg equilibrium was 0.231 and the expected heterozygosity (Hj) from Bayesian inference was 0.253. The level of genetic diversity was moderate compared to those of Genus Acer and lower than those of other species having similar ecological niche and life history. The inbreeding coefficient within populations ($F_{IS}$) from Bayesian method was 0.712 and it could be influenced by selfing or biparental inbreeding to induce homozygote excess. The level of genetic differentiation was 0.107 from AMOVA (${\Phi}_{ST}$) and 0.110 from Bayesian method (${\Phi}^{II}$). The genetic differentiation was lower than those of other species having similar ecological niche and life history. Ulleungdo population had the lowest level of genetic diversity and was genetically the most distinct population from others in the study. We consider that founder effect and genetic drift might be occurred to reduce genetic diversity and then the geographical isolation might interrupt gene flow to aggravate it.

Melanocyte-stimulating Hormone Receptor (MC1R) Genotype and Its Effects on Coat Color in Korean Jindo Dogs

  • Hong, Kyung-Won;Kim, Sang-Wook;Jang, Hong-Chul;Yang, Seung-Min;Shin, Young-Bin;Hong, Yoon-Hye;Kim, Jong-Seok;Oh, Seok-Il;Choi, Yoon-Ju;Chung, Dong-Hee;Yang, Boh-Suk;Lee, Ji-Woong;Choi, Bong-Hwan
    • Asian-Australasian Journal of Animal Sciences
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    • v.22 no.8
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    • pp.1078-1084
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    • 2009
  • The Jindo dog is a Korean natural monument and is recognized by the Fédération Cynologique Internationale. A prominent feature is the diverse coat color within the breed. To analyze the genetic basis of variation in the Jindo coat color, we sequenced the protein-coding regions of the melanocortin 1 receptor gene (MC1R). The MC1R coding sequence was determined from 154 dogs in five breeds (Jindo, Labrador Retriever, English Springer Spaniel, Belgian Malinois, and German Shepherd). To confirm the genetic structure of sampled populations, we tested for Hardy-Weinberg equilibrium (HWE) and computed $F_{st}$ The sample populations did not significantly deviate from HWE. $F_{st}$ was 0.02 between white and fawn Jindo dogs; this was lower than $F_{st}$ between breeds. Six single nucleotide polymorphisms (SNPs) were detected in the MC1R coding region. Among the six SNPs, five were non-synonymous (S90G, T105A, Q159P, M264V, and R306ter) and one was synonymous SNP (Y298Y). From the SNPs, we predicted four haplotypes (H1, H2, H3, and H4) for Jindo MC1R. Jindo dogs had different haplotypes corresponding to different coat colors. H1 was frequently observed in white Jindo dogs with an odds ratio of 5.03 (95% CI: 2.27-11.18, p<0.0001), whereas H2 and H4 were observed only in fawn Jindo dogs. Our findings indicate that SNP haplotype can influence coat color. Knowledge of MC1R haplotypes can help discriminate white and fawn coats in Jindo dogs. We hope this report will trigger more research into the genetics of this traditional Korean dog and will be a reference for dogs of Asian origin. Also, our results will provide a useful genetic marker for Jindo dog breeders who have selected for specific colors.

Study on the Prolactin Receptor 3 (PRLR3) Gene and the Retinol-binding Protein 4 (RBP4) Gene as Candidate Genes for Production Traits in Berkshire Pigs

  • Do, C.H.;Cho, B.W.;Lee, D.H.
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.2
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    • pp.183-188
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    • 2012
  • To investigate the influence of the prolactin receptor 3 (PRLR3) gene and the retinol-binding protein 4 (RBP4) gene on the production traits of swine, genotyping was performed on 156 and 141 Berkshire pigs, respectively, that were carefully selected for economic traits. The frequencies of allele A in the PRLR3 locus and allele B in the RBP4 locus were 0.50 and 0.42, respectively. Neither locus was in the Hardy-Weinberg equilibrium. After a genotype was assigned to the individuals whose parents had the homozygous genotype, a statistical analysis was conducted for 291 pigs. The animals with the PRLR3 and RBP4 genotypes included 182 and 227 head, respectively. Even though the genotypic effects of PRLR3 (p<0.05) and RBP4 (p<0.01) had a significant influence on the pigs' back fat thickness, the interaction of both genes was not highly significant in terms of the back fat thickness (p = 0.1235). While the estimated epistasis effects of aaBB and aaBb decreased the back fat thickness and reduced the growth rate, the effects of AAbb and aabb increased the growth rate. Despite the insignificant difference in the PRLR genotypes in terms of the days to 90 kg and the average daily gain, the back fat thickness showed a significant difference (p<0.05), and the additive effect of allele A and the dominant effect of the hetero-genotype were -0.377 and 1.206 mm, respectively. The RBP4 genotypes had a very significant effect (p<0.01) on the back fat thickness, the days to 90 kg, and the average daily gain. The additive effects of allele B of the RBP4 locus on the back fat thickness, the days to 90 kg, and the average daily gain were 0.70 mm, -1.3 days and 6.2 g, respectively. Moreover, the dominant effects of the heterozygote for those traits were 0.63 mm, 9.9 days and -45.0 g, respectively. Allele A of the PRLR3 locus favorably influenced the back fat thickness, the days to 90 kg of the body weight, and the average daily gain and its dominant effect unfavorably influenced those traits. Allele B of RBP4 showed an incremental growth rate and back fat thickness, which could lower the lean meat percentage in the carcass. The RBP4 hetero-genotype negatively affected the pork production. These results strongly imply that the selection of allele A of PRLR3 and allele B of RBP4 would produce highly productive pigs in the Berkshire breed. Careful selection of allele B of RBP4 is required because of the increase in the back fat thickness.

Updated Assessment of the Association of the XRCC1 Arg399Gln Polymorphism with Lung Cancer Risk in the Chinese Population

  • Yang, Hai-Yan;Yang, Si-Yu;Shao, Fu-Ye;Wang, Hai-Yu;Wang, Ya-Dong
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.2
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    • pp.495-500
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    • 2015
  • Background: Published studies have reported relationships between X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln polymorphism and lung cancer risk in Chinese population. However, the epidemiological results remained controversial. The objective of this study was to clarify the association of XRCC1 Arg399Gln polymorphism with lung cancer risk in the Chinese population. Materials and Methods: Systematic searches were performed through the database of Medline/Pubmed, Web of Science, Embase, CNKI and WanFang Medical Online. Odds ratios (ORs) with 95% confidence interval (95%CI) were calculated to estimate the strength of the association. Results: Overall, we observed an increased lung cancer risk among subjects carrying XRCC1 codon 399 Gln/Gln genotype (OR=1.36, 95%CI: 1.09-1.71) in the Chinese population on the basis of 19 studies with 5,416 cases and 5,782 controls. We did not observe any association between XRCC1 codon 399 Arg/Gln and Arg/Gln+Gln/Gln polymorphisms and lung cancer risk (OR=1.00, 95%CI: 0.92-1.08 and OR=1.05, 95%CI: 0.97-1.13, respectively). Limiting the analysis to studies with controls in agreement with Hardy-Weinberg equilibrium (HWE), we observed an increased lung cancer risk among subjects carrying XRCC1 codon 399 Gln/Gln genotype (OR=1.18, 95%CI: 1.01-1.38). When stratified by source of control, we observed an increased lung cancer risk among subjects carrying XRCC1 codon 399 Arg/Gln+Gln/Gln genotype on the basis of hospitalized patient-based controls (OR=1.21, 95%CI: 1.04-1.42) and among subjects carrying XRCC1 codon 399 Gln/Gln genotype on the basis of healthy subject-based controls (OR=1.22, 95%CI: 1.04-1.43). Conclusions: Our findings indicated that certain XRCC1 Arg399Gln variants might affect the susceptibility of lung cancer in Chinese population. Larger sample size studies are required to confirm our findings.