Fecundity in pigs is a trait of major economic interest but low heritability. For the improvement of fecundity, genetic markers for selection are desirable and therefore, several searches for genetic variation influencing fecundity have been performed. The aim of this review is to compare and to evaluate all published QTL analyses and candidate gene approaches concerning reproductive traits in sows. For this purpose, we present a comprehensive cytogenetic map comprising 54 QTL and 11 candidate genes with influence on reproductive traits. The evaluation and comparison of the results showed similarities, but also marked differences among studies. Reasons for different results are multicausal and are due to differences between resource populations, number of evaluated animals, mating systems, measured phenotypical traits and environmental influences. We could show that chromosome 8 and to a lower extend chromosome 7 are the most important chromosomes with regard to reproductive traits in pigs. For further research, fine mapping of the identified QTL regions is necessary in order to confirm and to narrow the most likely chromosomal intervals. Although difficult to perform, an advance would be a standardization of the experimental setup in particular, in respect to the collection of phenotypic data. Furthermore, we suggest to publish the information on further identified QTL and candidate genes as comprehensive and accurate as possible in order to allow a more transparent comparison and collation of the results.

Properdin (BF) was investigated as a candidate gene influencing litter size in a commercial pig cross population. The BF gene was chosen because of its integral role in influencing uterine epithelium growth and because several quantitative trait loci (QTL) with impact on reproductive traits have been detected near the centromere of porcine chromosome 7. A total of 123 F2 (Large White x Landrace) x Leicoma sows were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The sows were divided into two extreme performance groups, one with a high litter size (n = 61, > or = 14.3 piglets per litter) and the other with a low litter size (n = 62, < or = 11.3 piglets per litter). Although genotype and allele frequencies were uneven with 2.4% (AA), 16.3% (AB), 81.3% (BB) and 0.11 (A): 0.89 (B), the allele A was the unfavourable one, leading to less offspring. With regard to the level of significance at p < 0.05, the total number of born (TNB) and number of born alive (NBA) piglets were associated with BF genotypes. The genotype AA led to 10.55 TNB and 10.00 NBA, whereas the genotype BB led to 13.19 TNB and 12.11 NBA. The genotype AB was intermediate. In future, a systematic mating test is necessary in order to obtain more balanced genotype frequencies. Furthermore, it should be taken into consideration that the investigated polymorphism is located in an intronic region and the causative mutation is not clear yet.

The aim of this study was to investigate, if special genotypes of the genes glutathione peroxidase 5 (GPX5), fucosyltransferase 1 (FUT1) and estrogen receptor 2 (ESR2) are associated with litter size in a commercial pig cross population. For this purpose, a total of 123 F 2 sows were divided into two extreme performance groups, one with a high litter size (n = 61, ≥ 14.3 piglets per litter) and one with a low litter size (n = 62, ≤ 11.3 piglets per litter) and genotyped using PCR-RFLP methods. The Chi-square test was used in order to investigate, if a special genotype occurs significantly more often in one of the two performance groups (p < 0.05). Whereas no association was found between different ESR2 or GPX5 genotypes with one of the two performance groups, the number of sows with AB genotypes at the FUT1 gene was significantly increased in the high performance group in comparison to the low performance group.

The aim of this study was to develop a robust method to estimate single gene and random polygenic animal effects simultaneously in a small field dataset with limited pedigree information. The new method was based on a Bayesian approach using additional prior information on the distribution of externally estimated breeding values. The field dataset consisted of 40,269 test-day records for milk performance traits for 1455 genotyped dairy cows for the 11 bp-deletion in the coding sequence of the myostatin gene. For all traits, estimated additive effects of the favoured wild-type allele ('+' allele) were smaller when applying the new method in comparison with the application of a conventional mixed inheritance test-day model. Dominance effects of the myostatin gene showed the same behaviour but were generally lower than additive effects. Robustness of methods was tested using a data-splitting technique, based on the correlation of estimated breeding values from two samples, with one-half of the data eliminated randomly from the first sample and the remaining data eliminated from the second sample. Results for 100 replicates showed that the correlation between split datasets when prior information included was higher than the conventional method. The new method led to more robust estimations for genetic effects and therefore has potential for use when only a small number of genotyped animals with field data and limited pedigree information are available.

Altogether 129 F1 sows from a commercial sow farm with at least four litters were genotyped for the oestrogen receptor 2 gene (ESR2) and cytochrome P450 hydroxylase 21 gene (CYP21) and investigated for associations on the litter-size parameters: total number born and number born alive. Five novel polymorphisms were found in the 3'-untranslated region for the CYP21 gene. Genotype and allele frequencies for the CYP21 (position 3462G > A) single-nucleotide polymorphism (SNP) were 0.434 (GG), 0.504 (AG), 0.062 (AA) and 0.69 (G):0.31 (A), respectively. No association was found between this polymorphism and litter-size parameters. For the ESR2 gene, the SNP in exon 5 associated with an amino acid substitution MET (allele A) > VAL (allele G) was investigated. Only two genotypes were found leading to allele frequencies of 0.34 (A):0.66 (G). Only number born alive piglets were significantly increased for the AG genotype (p = 0.034) with 11.64 piglets per sow and litter in comparison with the GG genotype, leading to only 10.96 piglets per sow and litter. From these data, it can be concluded that the investigated SNP of the ESR2 gene is associated with the number of liveborn piglets in the commercial population considered, and hence could be useful in selection for litter size. Therefore, this gene should be investigated in additional populations.