Association analysis

Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy

J. Yin, Yang, J., Ren, F. X., Sun, C. M., Li, L. D., Han, L. Y., Cai, S. L., Zhang, C. H., Zhang, Z. Q., Zhang, Z. T., and Wang, H., “Association of the LMNA gene single nucleotide polymorphism rs4641 with bdilated cardiomyopathy”, vol. 14, pp. 15427-15434, 2015.

Recently, studies on the pathogenesis of dilated cardiomyopathy (DCM) have focused on the underlying molecular biology and the association between single nucleotide polymorphisms (SNPs) and disease. This study was designed to explore the association between the rs4641 SNP of the LMNA gene and DCM in order to identify a new gene locus related to DCM. Polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing were employed to detect and genotype rs4641 in 198 patients with DCM and 160 healthy controls.

Characterization of microsatellite markers and their correlations with growth traits in Mandarin fish (Siniperca chuatsi)

T. L. Yi, Fang, L., Liang, X. F., Sun, L. F., Li, J., Luo, X. N., Guo, W. J., Dou, Y. Q., and Sun, J., “Characterization of microsatellite markers and their correlations with growth traits in Mandarin fish (Siniperca chuatsi)”, vol. 14, pp. 8926-8934, 2015.

Mandarin fish (Siniperca chuatsi) is a traditionally cultured freshwater fish with high commercial value in China. To facilitate marker-assisted selection for genetic improvement of this species, 100 microsatellite markers identified in previous studies were characterized in the 25 largest and 25 smallest individuals. Twenty polymorphic loci were used to genotype 200 individuals, and the associations between their genotypes and growth traits were examined.

Association between growth differentiation factor-15 and chronic heart failure in coronary atherosclerosis patients

Z. D. Zhu and Sun, T., “Association between growth differentiation factor-15 and chronic heart failure in coronary atherosclerosis patients”, vol. 14, pp. 2225-2233, 2015.

We explored the association between plasma growth differentiation factor 15 (GDF-15) levels and chronic heart failure (CHF) in coronary heart disease patients. We measured plasma GDF-15 and N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels in 269 untreated coronary heart disease patients (98 with CHF, 84 without CHF, and 87 control patients) using an enzyme-linked immunosorbent assay. All subjects were examined by echocardiography and left ventricular ejection fraction.

Polymorphisms in a myostatin gene and associations with growth in a hybrid of Culter alburnus and Ancherythroculter nigrocauda

L. Cheng and Sun, Y. H., “Polymorphisms in a myostatin gene and associations with growth in a hybrid of Culter alburnus and Ancherythroculter nigrocauda”, vol. 14, pp. 5615-5620, 2015.

Myostatin (MSTN) is a member of the transforming growth factor-β superfamily that negatively regulates skeletal muscle development and growth. In the present study, partial genomic frag­ments of MSTN were screened for single nucleotide polymorphisms (SNPs) in a hybrid of Culter alburnus (♀) x Ancherythroculter nigro­cauda (♂) individuals from a commercial hatchery population, and two non-synonymous SNPs (c.6T>C and c.162G>A) and two synonymous SNPs (c.152G>A and c.155G>A) in exon 2 were identified.

Transcriptional analysis of the porcine TTID gene and association of different TTID genotypes with carcass traits

J. Wang, Feng, Y. - P., Zuo, B., Xiong, Y. - Z., and Deng, C. - Y., “Transcriptional analysis of the porcine TTID gene and association of different TTID genotypes with carcass traits”, vol. 13, pp. 1195-1202, 2014.

The titin immunoglobulin domain (TTID) protein localizes to the Z line in muscle and binds to alpha-actinin and gamma-filamin. It plays an indispensable role in stabilizing and anchoring of thin filaments. In this study, the 5'-regulatory region of the porcine TTID gene was analyzed with bioinformatic methods. Another objective of this study was to further investigate the polymorphism in the intron 6 of the porcine TTID gene. We determined allele frequency among six Chinese porcine purebreds.

Identification and characterization of RFRP gene in pigs and its association with reproductive traits

M. X. Fang, Huang, Y. S., Ye, J., Zhang, W., Li, Y., and Nie, Q. H., “Identification and characterization of RFRP gene in pigs and its association with reproductive traits”, vol. 13, pp. 1661-1671, 2014.

RFamide-related peptide (RFRP) gene is a crucial gene of the hypothalamo-pituitary-gonadal axis and plays an important role in reproduction regulation. This study aimed to clone and characterize the pig RFRP gene. We obtained a 645-bp cDNA of pig RFRP gene comprising a 546-bp open reading frame, which encoded a peptide of 188 amino acids. The pig RFRP coding sequences have the identities of 81, 68.8, and 76.1% with their counterparts in humans, mice, and rats, respectively.

Differential expression and effect of the porcine ANGPTL4 gene on intramuscular fat

Z. Q. Ren, Wu, W. J., Liu, W. H., Zheng, R., Li, J. L., Zuo, B., Xu, D. Q., Li, F. E., Lei, M. G., Ni, D. B., and Xiong, Y. Z., “Differential expression and effect of the porcine ANGPTL4 gene on intramuscular fat”, vol. 13, pp. 2949-2958, 2014.

In a previous study, we investigated differences in gene expression in backfat between Meishan and Large White pigs and their F1 hybrids, Large White x Meishan, and Meishan x Large White pigs. One potential differentially expressed sequence tag from the mRNA differential display was a homolog of the human angiopoietin-like 4 (ANGPTL4) gene, which encodes a protein that is secreted by both liver and white adipose tissues and can inhibit lipoprotein lipase activity and stimulate white adipose tissue lipolysis.

Association of XRCC5 polymorphisms with COPD and COPD-related phenotypes in the Han Chinese population: a case-control cohort study

B. Wang, Yang, J., Xiao, J., Liang, B., Zhou, H. X., Su, Z., Xu, S., Chen, H., Ma, C., Deng, J., Li, D., Ou, X., and Feng, Y., “Association of XRCC5 polymorphisms with COPD and COPD-related phenotypes in the Han Chinese population: a case-control cohort study”, vol. 13, pp. 7070-7078, 2014.

Genome-wide association studies (GWAS) and integrative genomic approaches have demonstrated significant associations between chronic obstructive pulmonary disease (COPD) and polymorphisms of the X-ray repair cross-complementing protein 5 gene (XRCC5) in non-Asian populations. We investigated whether XRCC5 polymorphisms might be associated with COPD susceptibility and COPD-related phenotypes in the Chinese Han population.

Four SNPs of insulin-induced gene 1 associated with growth and carcass traits in Qinchuan cattle in China

Y. Liu, Liu, X. L., He, H., and Gu, Y. L., “Four SNPs of insulin-induced gene 1 associated with growth and carcass traits in Qinchuan cattle in China”, vol. 11, pp. 1209-1216, 2012.

The insulin-induced gene 1 (Insig-1) is a regulator of lipid metabolism and plays an important role in the sterol-mediated regulation of SREBP, SCAP and HMG-CoA reductase. We used PCR-RFLP and DNA sequencing to detect polymorphisms of the Insig-1 gene in 215 individuals of the Qinchuan cattle breed. Four SNPs [4366(A>G), 4534(T>C), 5001(T>C), and 5235(G>A)] were indentified. The association of the genetic viariation with growth and carcass traits (body length, withers height, hip width, slaughter weight, and carcass weight) was analyzed.

Fourteen years after the Shahid-Rajaei dam construction: an evaluation of morphometric and genetic differentiation between isolated up- and downstream populations of Capoeta capoeta gracilis (Pisces: Cyprinidae) in the Tajan River of Iran

H. AnvariFar, Farahmand, H., Silva, D. M., Bastos, R. P., Khyabani, A., and AnvariFar, H., “Fourteen years after the Shahid-Rajaei dam construction: an evaluation of morphometric and genetic differentiation between isolated up- and downstream populations of Capoeta capoeta gracilis (Pisces: Cyprinidae) in the Tajan River of Iran”, vol. 12, pp. 3465-3478, 2013.

We evaluated the effects of the Shahid-Rajaei dam, 14 years after its construction, on morphometric and genetic divergence between up- and downstream populations of the Iranian fish Siah-Mahi (Capoeta capoeta gracilis). Sixty-six specimens were analyzed. There were significant differences between the 2 groups in the means of 16 morphometric characters (univariate analysis). In discriminant function analysis, the proportion of individuals classified into their original groups was 97 and 100% for up- and downstream populations, respectively.

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