Candidate Gene Polymorphisms Research Articles

The association of genetic polymorphisms with neuroconnectivity in breast cancer patients

Genetic polymorphisms in select genes, including APOE (apolipoprotein E), COMT (Catechol-O-Methyltransferase), MDR1 (multi-drug resistance 1), BDNF (brain derived neurotrophic factor), and GST (glutathione-S-transferase), have been associated with vulnerability to cognitive impairment. In this study, we evaluated the relationship of these genetic variants to measures of brain health in patients with breast cancer, including neurocognitive testing and functional connectome analysis. Women with breast cancer (n = 83) and female healthy controls (n = 53) were evaluated. They underwent resting-state functional MRI scans and neurocognitive testing. Polymerase chain reaction (PCR) was performed on saliva samples to identify single nucleotide polymorphisms (SNPs) in candidate genes: APOE, COMT, MDR1, BDNF, and GST. Breast cancer patients treated with chemotherapy had slower processing speed (p = 0.04) and poorer reported executive function (p < 0.0001) than healthy controls. Those chemotherapy-treated patients that were APOE e4 carriers had significantly slower processing speed. A greater number of risk-related alleles was associated with poorer connectivity in the regions of the left cuneus and left calcarine. While breast cancer patients that are APOE e4 carriers may have a select vulnerability to processing speed impairments, other risk-related alleles were not found to influence cognitive test performance in this population. Conversely, regions of impaired functional connectivity appeared to be related to risk-related genetic polymorphisms in breast cancer patients. This suggests that a cancer patient’s SNPs in candidate genes may influence the risk of neurotoxicity. Further study evaluating the impact of genotype on biomarkers of brain health in cancer survivors is warranted.

Peculiarities of Immune Regulation in Men of Perm Region with Atherosclerosis Related to Polymorphism of Candidate Genes.

The study examined peculiarities of immune regulation and associated polymorphic variants of candidate genes in men with atherosclerosis in Perm region. The revealed deficiency of CD127 lymphocytes and Annexin V-FITC+7AAD- cells, as well as enhanced level of CD3+CD4+ lymphocytes against the background of variant alleles of candidate genes FAS (rs1159120), CPOX (rs1131857) and wild-type alleles SULT1A1 (rs9282861), MMP9 (rs17576) are responsible for peculiar features of hereditary determination and pathogenesis of atherosclerosis in examined sample (p<0.05). The genetically determined degradation of extracellular matrix in vascular wall and implication of regulated Fas/APO1 apoptosis in the development of progressive atherosclerotic lesions indicate important role of immune system in atherogenesis. The revealed immunological and genetic features are recommended as the markers for early diagnosis of atherosclerosis and its prevention in men of Perm region.

Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto’s Thyroiditis: How Far Is Our Understanding?

Polycystic ovary syndrome (PCOS) and Hashimoto’s thyroiditis (HT) are endocrine disorders that commonly occur among young women. A higher prevalence of HT in women with PCOS, relative to healthy individuals, is observed consistently. Combined occurrence of both diseases is associated with a higher risk of severe metabolic and reproductive complications. Genetic factors strongly impact the pathogenesis of both PCOS and HT and several susceptibility loci associated with a higher risk of both disorders have been identified. Furthermore, some candidate gene polymorphisms are thought to be functionally relevant; however, few genetic variants are proposed to be causally associated with the incidence of both disorders together.

Polymorphic genetic markers and how they are associated with clinical and metabolic indicators of type 2 diabetes mellitus in the Kazakh population.

Type 2 diabetes mellitus is a serious public health problem worldwide. The aim of the study was to analyze the relationship of eight polymorphic gene variants with the development of clinical-metabolic rates of type 2 diabetes mellitus inside Kazakh population. 139 patients with type 2 diabetes mellitus and 100 patients in the control group were examined. Genotyping of polymorphisms of candidate genes was carried out on a next generation QuantStudio 12K Flex unit. Gene TCF7L2 locus rs7901695 and rs7903146, gene KCNQ1 locus rs2237892, rs7756992, and gene CDKAL1 locus rs7754840 demonstrated statistically significant associations with glucose metabolism, lipid profile and body mass index (BMI) in type 2 DM inside the population. Statistically significant difference in anthropometric and biochemical measures of rs17584499, rs4712523 and rs163184 has not been revealed. Genetic polymorphisms that influence pancreatic gland beta-cells insulin release and secretion associate with metabolic and anthropometric measures definitive for type 2 DM in Kazakh population.

Age by Single Nucleotide Polymorphism Interactions on Bronchodilator Response in Asthmatics.

An unaddressed and important issue is the role age plays in modulating response to short acting β2-agonists in individuals with asthma. The objective of this study was to identify whether age modifies genetic associations of single nucleotide polymorphisms (SNPs) with bronchodilator response (BDR) to β2-agonists. Using three cohorts with a total of 892 subjects, we ran a genome wide interaction study (GWIS) for each cohort to examine SNP by age interactions with BDR. A fixed effect meta-analysis was used to combine the results. In order to determine if previously identified BDR SNPs had an age interaction, we also examined 16 polymorphisms in candidate genes from two published genome wide association studies (GWAS) of BDR. There were no significant SNP by age interactions on BDR using the genome wide significance level of 5 × 10−8. Using a suggestive significance level of 5 × 10−6, three interactions, including one for a SNP within PRAG1 (rs4840337), were significant and replicated at the significance level of 0.05. Considering candidate genes from two previous GWAS of BDR, three SNPs (rs10476900 (near ADRB2) [p-value = 0.009], rs10827492 (CREM) [p-value = 0.02], and rs72646209 (NCOA3) [p-value = 0.02]) had a marginally significant interaction with age on BDR (p < 0.05). Our results suggest age may be an important modifier of genetic associations for BDR in asthma.

Pilot Study on Genetic Associations With Age-Related Sarcopenia.

Despite strong evidence of an inheritable component of muscle phenotypes, little progress has been made in identifying the specific genetic factors involved in the development of sarcopenia. Even rarer are studies that focus on predicting the risk of sarcopenia based on a genetic risk score. In the present study, we tested the single and combined effect of seven candidate gene variants on the risk of sarcopenia. Single nucleotide polymorphisms in candidate genes were genotyped using the KASP assay. We examined 190 older adults that were classified as non-sarcopenic or sarcopenic according to the diagnostic criteria of the European Working Group on Sarcopenia in Older People. Sarcopenia was associated with Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 genotypes. The combined effect of all three polymorphisms explained 39% of the interindividual variation in sarcopenia risk. Our results suggest that the single and combined effect of Methylenetetrahydrofolate reductase, Alpha-actinin-3, and Nuclear respiratory factor 2 polymorphism is associated with sarcopenia risk in older adults. Nowadays, as the population is getting older and older, great efforts are being made to research the etiology, diagnosis and treatment of sarcopenia. At the same time, small progress has been made in understanding the genetic etiology of sarcopenia. Given the importance of research on this disease, further genetic studies are needed to better understand the genetic risk underlying sarcopenia. We believe that this small-scale study will help to demonstrate that there is still much to be discovered in this field.

Features of the immune and metabolic profile of autonomic dysfunction associated with polymorphism of candidate genes

Features of the immune and metabolic profile of autonomic dysfunction associated with polymorphism of candidate genes

Obesity, dyslipidaemia and candidate gene polymorphisms: a cross-sectional study among the Liangmai and Mizo tribes of Manipur, India

Background The prevalence of obesity and dyslipidaemia was observed to be increased among the tribal populations, due to globalization. Materials and methods In the present study, data on demographic, somatometric and blood samples were collected from 613 participants of both sex, age 18–60 years, further lipid profiling and genotyping was executed. Multifactor dimensionality reduction (MDR) software was used for gene–gene interactions analysis. Results Significantly differences were observed with respect to the general characteristic and selected gene polymorphisms in both the tribes. Among the Liangmai tribe, MC4R gene was found to pose significant decreased risk for waist–height ratio (WHtR) (OR = 0.56; 95% confidence interval (CI)= 0.32–0.99; p value = .04) and HDL (OR = 0.58; 95% CI = 0.36–0.92; p value = .02). Similar trends of significant decreased risk (OR = 0.39; 95% CI = 0.20–0.76; p value=.006) for BMI were observed among the Mizo tribe. The gene–gene interaction revealed the combined model of FTO+MC4R genes shows an increased risk for BMI in both the tribes. The independent significant increased risk posed by FTO gene was moderated by interaction with MC4R gene. Conclusions The observed differences can possibly attribute to both their respective ancestries resulting in different gene pools and the physical environment. The results of the study highlight the importance of gene–gene and gene–environment interactions in adverse phenotype groups. KEY MESSAGE Among the tribal population, the prevalence of obesity and dyslipidaemia has been increased. Differential distribution and associations of selected markers hint towards differential genetic architecture in these populations. MC4R rs17782313 polymorphism was found to show a significantly decreased risk for WHtR and low HDL among the Liangmai tribe and BMI among the Mizo tribe. Significant increased risk posed by FTO rs9939609 gene polymorphism was moderated by the interaction with MC4R rs17782313.

Current concepts and molecular mechanisms in pharmacogenetics of essential hypertension.

Hypertension is a leading age-related disease in our society and if left untreated, leads to fatal cardiovascular complications. The prevalence of hypertension has increased and becomes a significant global health economic burden, particularly in lower-income societies. Many loci associated with blood pressure and hypertension have been reported by genome-wide association studies that provided potential targets for pharmacotherapy. Pharmacogenetic research had shown interindividual variations in drug efficacy, safety, and tolerability. This could be due to genetic polymorphisms in the pharmacokinetics (genes involved in a transporter, plasma protein binding, and metabolism) or pharmacodynamic pathway (receptors, ion channels, enzymes). Pharmacogenetics promises great hope toward targeted therapy, but challenges remain in implementing pharmacogenetic aided antihypertensive therapy in clinical practice. Using various databases, we analyzed the underlying mechanisms between the candidate gene polymorphisms and antihypertensive drug interactions and the challenges of implementing precision medicine. We review the emergence of pharmacogenetics and its relevance to clinical pharmacological practice.

Pregnancy as a Factor of Adaptive Human Evolution. The Role of Natural Selection in the Origin of Preeclampsia

The review discusses the data on the significant role of pregnancy in adaptive evolution of modern humans. In the aspect of evolutionary medicine, the main attention is paid to preeclampsia (PE), a severe hypertensive pathology of pregnancy. The current evolutionary hypotheses about the origin and causes of racial and ethnic variability in the incidence of this pathology in human populations are summarized. Studies that suggest the contribution of adaptive evolution to the formation of a hereditary predisposition to the development of PE are presented. Our results which first showed the significant role of negative selection in the formation of the genetic architecture of PE via the regulatory single nucleotide polymorphisms of new candidate genes for this pathology are demonstrated.

Single Nucleotide Polymorphisms of Candidate Genes Related to Egg Production Traits in Vietnamese Indigenous Chickens

The objective of this work was to detect single nucleotide polymorphisms (SNPs) in two candidate genes known to relate with reproductive traits in Vietnamese chicken. Two indigenous breeds Ri and Mia chickens were used for genotyping 4 SNPs namely intron 1 of growth hormon gene (GH), exon 5 of prolactin receptor gene (PRLR5), a 24 bp nucleotide sequence insertion-deletion at situation -358 in 5’- untranslated region of prolatin gene (PRL24); and at site C2404T of prolactin gene (PRL2402). It was shown that the SNP sites of these candidate genes were identified in two local breeds. Three genotypes of each loci were found (AA, AB and BB for GH; II, ID and DD for 24 bp indel of PRL and CC, CT and TT for PRL2402), except only genotypes of AA and BB of PRLR5 were detected (no heterozygous genotype of AB). The frequencies of the desired genotypes of AA (GH), BB (PRLR5), II (PRL24) and CC (PRL2402) were low in both indigenous Ri and Mia chickens. Based on this study it could be suggested that the study on association between these loci with egg production traits and the selection to increase the desired genotype frequency in poputions are necessary to improve egg production of Ri and Mia chickens.

ANALYSIS OF THE FREQUENCY OF DETECTION OF ALLELES AND GENOTYPES OF POLYMORPHISM (RS1695) ILE 105 VAL FGB GENE IN PREGNANT WOMEN

&lt;b&gt;Introduction.&lt;/b&gt; Currently, the most implemented approach to the study of the mechanisms of the formation of obstetric complications (in particular, fetal growth restriction syndrome and fetoplacental insufficiency, FPI) is the identification of disease associations with DNA polymorphisms of candidate genes or their protein products. Particular attention is paid to the genes of the endothelial system, which play a role in the development of thrombophilia. &lt;br&gt;&lt;b&gt;Patients and methods.&lt;/b&gt; The study involved 50 pregnant women aged 20 to 45 years, including 40 patients with FPI and 10 patients without FPI. All pregnant women underwent general clinical, instrumental, biochemical and molecular genetic studies. The object and subject of research for molecular genetic studies were DNA samples of pregnant women and the FGB gene polymorphism (rs1695) IIe 105 Val. &lt;br&gt;&lt;b&gt;Results.&lt;/b&gt; The results of a comparative analysis of the frequencies of distribution of alleles and genotypes of IIe 105 Val polymorphism of the FGB fibrinolysis gene among 80 DNA samples in 40 pregnant women in 87.5% of cases revealed the presence of the normal allele G and in 12.5% of cases - the presence of the allele A (χ&lt;sup&gt;2&lt;/sup&gt;=0.1; р=0.8; OR=1.2; 95%CI 0.306-4.983). Meanwhile, in the control group in 10 pregnant women without FPI, the frequency of the normal allele G of the FGB gene was 85%, while the frequency of the A mutant allele IIe 105 Val of the FGB gene amounted to 15%. The study of the genetic structure of this marker revealed a tendency to an increase in the expected mutation in the main group of pregnant women with FPI in relation to the group without FPI (10% and 2.25%, respectively). &lt;br&gt;&lt;b&gt;Conclusion.&lt;/b&gt; FGB fibrinolysis gene polymorphism (rs1695) IIe 105 Val is relatively widespread among pregnant women in Uzbekistan, and its clinical significance requires further studies.

Disruption of 24-Hour Rhythm in Intraocular Pressure Correlates with Retinal Ganglion Cell Loss in Glaucoma.

Parameters of 24-h rhythm in intraocular pressure (IOP) were assessed in patients with stable or advanced primary open-angle glaucoma (S-POAG/A-POAG) and referenced to the phase of “marker” circadian temperature rhythm of each patient. Body temperature and IOP were measured over a 72-h span in 115 participants (65 S-POAG and 50 A-POAG). Retinal Ganglion Cell (RGC) damage was assessed by high-definition optical coherence tomography. The 24-h IOP rhythm in A-POAG patients peaked during the night, opposite to the daytime phase position in S-POAG patients (p < 0.0001). The 24-h IOP phase correlated with RGC loss (p < 0.0001). The internal phase shift between IOP and body temperature gradually increased with POAG progression (p < 0.001). Angiotensin converting enzyme Alu-repeat deletion/insertion (ACE I/D) emerged as a candidate gene polymorphism, which may play a role in the alteration of the circadian IOP variability in advanced glaucoma. To conclude, a reliable estimation of the 24-h rhythm in IOP requires the degree of RGC damage to be assessed. In advanced POAG, the 24-h phase of IOP tended to occur during the night and correlated with RGC loss, being progressively delayed relative to the phase of temperature.

THE ROLE OF DETERMINING SOME GENETIC POLYMORPHISMS IN PATIENTS WITH NEURO-CIRCULATOR ASTHE- NIA AND HYPERTENSIVE HEART DISEASE OF STAGE I

Arterial hypertension is a multifactorial disease, a significant role in the pathogenesis of which is played by a genetic factor. In recent years, many studies have been carried out to identify genes in various diseases, including arterial hypertension, and candidate gene databases have appeared, to which the results of these studies have been added. There are known polymorphisms of genes associated with the development of arterial hypertension, as well as with a change in the pharmacodynamics of antihypertensive drugs. The following genes and the peculiarities of metabolism and activity of pressor systems associated with their polymorphisms are most studied: genes of the cytochrome system (CYP2D6, CYP2C9, CYP11B2); genes of the renin-angiotensin-aldosterone system: ACE (angiotensin-converting enzyme gene), AGT (angiotensinogen gene), AGTR1 and AGTR2 (angiotensin 1 and angiotensin 2 receptor genes). The objective of the study was to study the frequency of detection of gene polymorphisms associated with the development of arterial hypertension in patients with hypertensive neurocirculatory asthenia and stage I hypertension. A total of 77 conscripts and contract employees between the ages of 18 and 40 were examined. Using the amplifier, the following genes were studied by polymerase chain reaction and detection: the p-450 cytochrome gene (CYP11B2) and the AGT renin-angiotensin-aldosterone system gene: 704 T> C. Polymorphisms of candidate genes for arterial hypertension were found in 100% of the examined. AGT polymorphisms: 704 T> C and CYP11B2 were more often detected in stage I hypertension than in hypertensive neurocirculatory asthenia. Conducting genetic research at a young age in patients with hypertensive neurocirculatory asthenia will reveal a risk group for the development of hypertension.

Osteonecrosis of the jaw risk factors in bisphosphonate-treated patients with metastatic cancer.

A case-control study was performed to define clinical and genetic risk factors associated with osteonecrosis of the jaw in patients with metastatic cancer treated with bisphosphonates. Clinical data and tissues were collected from patients treated with bisphosphonates for metastatic bone disease who were diagnosed with osteonecrosis of the jaw (cases) and matched controls. Clinical data included patient, behavioral, disease, and treatment information. Genetic polymorphisms in CYP2C8 (rs1934951) and other candidate genes were genotyped. Odds ratios from conditional logistic regression models were examined to identify clinical and genetic characteristics associated with case or control status. The study population consisted of 76 cases and 126 controls. In the final multivariable clinical model, patients with osteonecrosis of the jaw were less likely to have received pamidronate than zoledronic acid (odds ratio=0.18, 95% Confidence interval: 0.03-0.97, p=.047) and more likely to have been exposed to bevacizumab (OR=5.15, 95% CI: 1.67-15.95, p=.005). The exploratory genetic analyses suggested a protective effect for VEGFC rs2333496 and risk effects for VEGFC rs7664413 and PPARG rs1152003. We observed patients with ONJ were more likely to have been exposed to bevacizumab and zoledronic and identified potential genetic predictors that require validation prior to clinical translation.

Combining total and differential somatic cell count to screen for mastitis

Combining total and differential somatic cell count to screen for mastitis

Analysis of single nucleotide polymorphisms related to heifer fertility in Hanwoo (Korean cattle)

Genome-wide association studies (GWAS) have accelerated the identification of functional trait loci in cattle and identified single nucleotide polymorphisms (SNPs) in candidate genes associated with fertility and production traits in high milk yield dairy cattle. The fertility of Hanwoo (Korean native beef cattle) has declined after the adaptation of a selection program for high quantity and quality meat. However, there are few GWAS studies of fertility in beef cattle. We performed a genome-wide association study of 40 Korean native beef cattle heifers with imputed 770 K genotype and identified 12 significant SNPs within seven regions on three chromosomes (BTA 8, BTA 16 and BTA 24) associated with services per conception (SPC). Five SNPs were located in the ABCA1, BRINP3 and ESRRG genes, which are involved in early embryo development. In addition, 27 proximal genes were identified within 1 Mb of the candidate SNPs, which are involved in muscle cell differentiation and muscle structure development. However, we did not find any previously reported SNPs related to fertility in Holstein cows. Taken together, we identified SNPs associated with SPC and their proximal genes using gene-based analysis and the candidates were different from SNPs associated with subfertility of dairy cattle.

Integrative assessment of candidate gene polymorphisms distribution by forming a gene modification index in arterial hypertension with and without obesity: a new perspective in cardiology management

Abstract The concept of evolutionary accumulation of candidate gene polymorphisms in the realization of the hypertensive phenotype becomes promising in understanding of arterial hypertension (AH). A large amount of data about genetic polymorphisms in population have been accumulated and perspective approaches to their integrative assessment are being formulated for practical management. The purpose of the research was to analyze and compare the proportion of modified candidate genes (CG) in the group of hypertensive patients with and without obesity with the group of non-hypertensive patients by calculating the gene modification index (GMI) for the assessment of possible usage of genetic stratification in the management of AH. Methods 106 patients with AH and obesity (age 46.2 [24–72], m/f 79/27), (group 1), 96 hypertensive patients without obesity (age 48.3 [26–75], m/f 72/24), (group 2) and 98 non-hypertensive patients (age 41.6 [26–69], m/f 39/59), (group 3) (ESC/ISH 2018, WHO 1997) were examined. The analysis of polymorphisms of the following CG by PCR was perfomed: ADD1: 1378, AGT: 704, AGT: 521, AGTR1: 1166, AGTR2: 1675, CYP11B2: −344, GNB3: 825, NOS3: −786, NOS3: 894. The GMI which represents the percentage of “pathological” genotypes was formed and calculated by the formula: GMI = (N/13.5) × 100, where N is the sum of points of present GP (“pathological” homozygous was 1,5 points, heterozygous – 1 point, “normal” genotype – 0 points); 13.5 – maximum number of points. The GMI from 0 to 20% was considered as low genetic risk (GR), from 21 to 40% – moderate GR, from 41 to 70% – high GR, from 71 to 100% – very high GR. Results In patients with AH and obesity, a low GR was in 4 (3.8%), in the group of hypertensive patients without obesity – 13 (13.5%), in normotensive patients – in 81 (82.7%) (p1–3 = 0.0001, p2–3 = 0.0001, p1–2 = 0.02). Moderate GR was observed in 21 (19.8%) patients of the 1st group, in 25 (26%) patients of the 2nd group and in 12 (12.2%) patients of the 3rd group (p1–3 = 0.07, p2–3 = 0.01, p1–2 = 0.02). 54 (50.9%) patients of group 1, 41 (42.7%) patients of group 2 and 5 (5.1%) of patients of group 3 had a high GR (p1–3 = 0.0001, p2–3 = 0.0001, p1–2 = 0.08); a very high GR was in 27 (25.5%) patients of the 1st group, in 17 (17.8%) of the 2nd group and was absent in the patients of the 3rd group (p1–3 = 0.0001, p2–3 = 0.0001, p1–2 = 0.02). The average GMI in group 1 was 66.2% [CI 95%, 20–78], in group 2 – 56.4% [CI 95%, 18–72], in group 3 – 22% [CI 95% 5–41], (p1–3 = 0.0001, p2–3 = 0.0001, p1–2 = 0.04). Conclusions It was revealed a strong significant predominance of the proportion of modified CG in hypertensive patients with and without obesity compared with non-hypertensive patients. There was a moderate significant difference between hypertensive patients, depending on the presence of obesity. Evaluation of GMI is a perspective direction in the diagnosis and prevention of AH and can be used in practical management. Funding Acknowledgement Type of funding source: None

Indigenous Lien Minh chicken of Vietnam: Phenotypic characteristics and single nucleotide polymorphisms of GH, IGFBP and PIT candidate genes related to growth traits

Abstract. Thu HDT, Binh NTT, Duc LD, Huu DB, Nhung DT, Xuan CN, Viet LN, Thai AN, Quang ML, Pham DK, Hoang TN. 2020. Indigenous Lien Minh chicken of Vietnam: Phenotypic characteristics and single nucleotide polymorphisms of GH, IGFBP and PIT candidate genes related to growth traits. Biodiversitas 21: 5344-5352. Lien Minh chicken, a Vietnamese indigenous breed, has contributed importantly to the economic development of rural citizens in Cat Ba island, Hai Phong province due to its highly desired characteristics. However, Lien Minh chickens showed a slower growth rate when compared to other industrial chicken breeds. Therefore, the study aims at assessing the appearance characteristics and growth performance of 100 individuals Lien Minh chickens, and investigating the single nucleotide polymorphisms (SNPs) of candidate genes including GH, IGFBP and PIT, which might be associated with growth traits. Blood samples were collected from wing of Lien Minh chickens and used for DNA extraction. Genotyping by the PCR-RFLP method was then conducted. The allele frequencies were 0.97 and 0.03 for alleles A and G of GHi3 gene, respectively. For in IGFBP2 gene, allele frequencies were found as 0.47 for the A allele and 0.53 for G allele. The allele frequencies for PIT1 gene were recorded as 100% for allele B. These polymorphic loci (GHi3, PIT1, and IGFBP2) were followed by the Hardy-Weinberg equilibrium in the Lien Minh chicken population. These were the initial results, which could be used to analyze the correlation of molecular markers and growth traits in Lien Minh chickens.

Polymorphism of candidate genes associated with reproductive performance in crossbred pigs

This investigation was done to analyze the polymorphism of 5 SNPs in candidate genes associated with reproductive performance in crossbred pig population by PCR-RFLP. The results revealed that out of 5 SNPs genotyped, 2 were polymorphic and 3 were monomorphic. Genotypic frequency of crossbred pigs were CC (100%) for ESR1; GG (21%), GT 65%) and TT (14%) for Prei3; CC (100%) for FSHβ; AA (100%) for OPN and CC (21%), CT (63%) and TT (16%) for CDK20 SNPs, respectively. Allelic frequencies for these SNPs {ESR1 (c.1227C&gt;T), Prei3 (T802G), FSHβ (c.930A&gt;G), OPN (c.425G&gt;A) and CDK20 (T96C)} were 1.00 (C), 0.53 and 0.47 (G/T), 1.00 (C), 1.00 (A) and 0.52 and 0.48 (C/T), respectively. The least squares analysis revealed that both polymorphic SNPs had non-significant effect on litter traits. The values of PIC, heterozygosity and allelic diversity indicated that crossbred population under investigation was of intermediate diversity for both polymorphic SNP loci.